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What is the definition of mental retardation?
- IQ 2 SD or more below average
- Generally <70
What is the prevalence of mental retardation and when are children usually recognized?
- ~3% of the population
- Most (90%) are not identified until school age
What are the causes for mental retardation?
- Unknown (40%)
- Genetic (25%)
- Prenatal (asphyxia)
- Neonatal (infx)
- Infancy (abuse)
What kind of hx would you want when evaluating a child for mental retardation?
- Maternal exposures, birth hx (recurrent SABs?)
- Developmental hx
- Family hx
If mental retardation is found in the office what is it usually due to? What are some classic features to clue you in to this dx on physical exam?
- Usually due to delay in developmental milestones (hearing & speech common)
- May show abn facial features, hypotonia, FTT at birth
What are some labs to consider when diagnosing mental retardation?
- UA screen for amino/organic acids
- Inborn errors of metabolism screens (PKU, TSH)
- Chromosome studies
- Ensure newborn screen in unremarkable but don't hesitate to repeat tests
What tests are used to make a definitive dx of mental retardation?
- Developmental milestones
- IQ testing (not feasible in very young)
- School eval/testing/Denver Dev Screen Test
Why is the term "development delay" used for children <3 yo that show some mental retardation?
Because testing may not have good long term prognostic correlation
What are some common mistakes that delay dx of mental retardation?
- Child doesn't "look retarded"
- Child is ambulatory
- Child is too young to test
- Parents & provider have "wait & see" approach
What level of retardation allows a person to perform socially & acquire skills like reading?
Mild (IQ 50-69) (75%)
What level of retardation allows a person to perform only basic self care?
Moderate (IQ 30-49) (10%)
What level of retardation leaves a person with minimal ability who also needs constant supervision?
Severe (IQ 20-29) (10%)
What level of retardation leaves a person unable to care for self, leaving them totally dependent on others?
Profound (IQ <20) (5%)
What are the reasons families with a mentally retarded child would need support?
- Emotional strains
- Siblings (normal child gets overlooked)
- Abuse or neglect (common with different kids)
What disorder is of unknown cause but has a genetic component, and is NOT due to poor maternal child bonding? What has been disproven as a possible cause for this disorder?
- Autism spectrum disorder
- Vaccines have been disproven as a cause
What is the epidemiology of autism spectrum disorder?
- More common in males (5:1)
- Increasing rates of dx
- Siblings at increased risk
- Identical twins at increased risk
- Often coexists with mental retardation
Which autism spectrum d/o diagnosis is described as impairment in reciprocal social communication & interaction? What are the features of this dx?
- Diagnosis 1
- Usually ok until 2-3 yo then they regress; non-verbal communication (disordered eye contact, facial expressions, gestures, tone of voice)-misinterpreted & not correctly done; difficultly with convos, emotional interaction, sharing emotions; difficulty w/ relationships, pretend play, social expectations
- Focus on objects, not people; have repetitive stereotypic behaviors like watching fan blades, constantly aligning objects in linear patterns, repeated dangerous behavior despite parental intervention
Which autism spectrum d/o is described as impairment in restricted & repetitive behaviour? What are some features of this dx?
- Diagnosis 2
- Rituals, adherence to routine, resistive to change; stereotyped or repetitive speech, motor movement or use of objects; restricted range of interests w/ intense focus on the interest; hypo or hyper reactivity to sensory input or unusual interest in sensory aspects of the environment
What are the older "variants" gone from DSM-V of autism spectrum d/o?
- pervasive developmental disorder (full criteria not met)
- Asperger disorder ("milder" autism w/ preservation of language development)
What is the general treatment for autism spectrum d/o?
Specialist referral (psychostimulants/ "atypical" antipsychotics)
What are the best predictors of prognosis for long term function with autism d/o?
Language skills & IQ
Collection of static neuro-motor disorders, due to various nonhereditary injuries, and the insult usually occurs before 1-2 yo w/ sxs before 1-2 yo.
What are the various nonhereditary injuries that cause cerebral palsy?
- prenatal (80%): idiopathic but not genetic
- perinatal (10%): asphyxia, trauma
- postnatal (10%): meningitis, trauma
What are the four main types of cerebral palsy?
- Spastic (quadraplegic, hemiplegic, diplegic, paraplegic) (75%)
- Dyskinetic (15%)
- Ataxic (5%)
- Hypotonic (dystonic) (<1%)
How do newborns with spastic CP appear?
Hypotonic @ birth but w/ brisk DTRs
How do toddlers with spastic CP appear?
- muscular hypertonicity (contractures often develop)
- hyperactive DTRs
- scissor gait & toe walk common
What are the clinical features of dyskinetic CP (usually it is combined with other types)?
- basal ganglia involvement
- athetoid or choreiform movements (increase w/ emotionall tension & disappear during sleep)
- facial grimacing, dysarthria (slurred speech) often severe
Movements are typically slow, twisting and writhing. Associated with spasticity & most commonly involve the face, neck & distal extremities.
Movements are brief, rapid, jerky, & unpredictable. Can occur at rest or during normal movement. Typically involve the hands, lower arm, face, and head.
What are the clinical features of ataxic CP (pure ataxia/often occur with spastic type)?
- cerebellar motor dysfunction (unsteadiness causes wide based gait)
- disruption of fine motor activity (intention tremor)
What are the clinical findings used to dx cerebral palsy? What lab studies are useful to dx CP?
- Clinical: developmental delay w/ UMN signs (brisk DTRs, spasticity); persistent infantile reflexes (Moro and/or others) >6 mo; asymmetric motor activity (hand dominance prior to 12 mo)
- Lab: brain CT or MRI, EEG, urine screen for amino/organic acidurias
What are some associated disorders of cerebral palsy?
- mental retardation (~60%) of variable severity
- seizures (~50%)
- hearing, speech, vision defects
What is the overall goal for treatment of cerebral palsy? What are the the global strategies of cerebral palsy tx?
- General: increase functionality & independence
- Global: neurodevelopmental treatment (NDT) (control tone, reflex, posturing, etc) & conductive education (education & rehab over med therapy)
What are the goals/approach of physical therapy in treatment of cerebral palsy?
- resistive exercise to increase strength & coordination
- functional therapy over normalization of movement
- bracing, walkers & external aids
- e-stim shown to be beneficial
What medical therapy is used to decrease spasticity in cerebral palsy?
- botox inj
- oral muscle relaxants
- intrathecal baclofen (experimental)
What are some therapies that are used to treat other comorbidities of cerebral palsy?
- anti seizure meds
- stimulants for ADHD
- H2 blockers for GERD
What surgical therapies are used to treat cerebral palsy?
- selective dorsal rhizotomy: cut neural L5-S1 roots, decreases spasticity, may cause bowel/bladder dysfx
- selective osteotomies: usually proximal femoral vaurs producing osteotomy to reduce hip dislocation
- superior medial cortex implant: pulse generator to brain decreases seizure activity & reduces athetoid movements
What is the general prognosis for cerebral palsy?
- mild cases may resolve (30% by age 7)
- normal mental function is good for a normal life span
- death is from secondary complications (50% of severe cases die by 10 yo)
What term can you use to decrease the stigmata associated with cerebral palsy to emphasize it's non degenerative nature?
Difficult or fussy child with no exact reason.
What is Wessel's rule (good rule of thumb)?
- Rule of 3's
- Crying >3 hrs/day, >3 days/wk, for >3 wks=COLIC
When performing a H&P on a colicky child, what are some of the organic sxs of crying you should look for first?
- child abuse
- otitis media, corneal abrasion, thorn, bite, rash, etc
- cow's milk allergy
When does colic normally occur?
AM and PM (diurnal)
What is the treatment for colic?
- parent education (85% resolves by 3 months, counseling on parent frustration)
- soothing voice, motions, activities for child
- no meds are proven helpful
- consider formula changes if hx c/w allergic colitis or lactose intolerance
What is the prognosis and prevention for colic?
- Prognosis: parents of colicky children report more cases of child temper tantrums at an older age, family dynamics & functioning appear impaired by colicky infants, child sleep patterns & atopic disease & cognitive development are proven to NOT be affected by colic
- Prevention: let them cry, its normal and healthy
Out of control behavior, violent displays of frustration that usually last 2-5 minutes.
What are you looking for with H&P when evaluating a child with temper tantrums?
- child abuse
- cognitive & neuro deficits
- social stressors
- lead poisoning/anemia
What is the treatment for temper tantrums?
- parental reassurance
- assess for any unmet needs in child
- structure child's environment for success
- discipline (avoid rewarding bad behavior or physical punishments to get them to be quiet)
What is the prevalence and general rule that pertains to ADHD?
- Prevalence: ~10% of school age children
- Rule of 75s: ~75% male, ~75% fail at least one academic year, ~75% benefit from meds
What percentage of children with learning difficulties also have ADHD?
- note: 20% of kids are evaluated for behavioral problems and only 1/2 of them are actually found to have ADHD
How is ADHD diagnosed?
- inattentiveness for at least 6 months duration with 6 or more ADHD sxs as described by DSM V
- Hyperactivity for at least 6 months with 6 or more ADHD sxs as described by DSM V
What are ADHD sxs for inattentiveness according to DSM V?
- doesn't pay attention to details
- difficulty sustaining attention at tasks
- often fails to listen when spoken to
- fails to follow through on instructions, fails to finish work
- difficulty organizing tasks
- avoids/is reluctant to engage in tasks requiring sustained mental effort
- often loses necessary things
- easily distracted by extraneous stimuli
- often forgetful in daily activities
What are the hyperactivity sxs of ADHD according to DSM V?
- often fidgets w/ hands or feet
- often leaves seat when inappropriate
- often runs about in inappropriate places
- has difficulty playing quietly
- often "on the go", "driven by a motor"
- talks excessively
- often blurts out answers before questions are completed
- has difficult awaiting turn
- often interrupts of intrudes on others
What are some other qualifiers required besides inattention and hyperactivity that help with diagnosing ADHD?
- child has some sxs before 12 yo
- sxs present in TWO settings (ie, school and home)
- clinically significant impairment in social, academic/occupational function
- no other psychiatric d/o better explains condition
What are the subtypes of ADHD?
- predominantly inattentive
- predominantly hyperactive/impulsive
- combined type
What are some mental impairments that are DDX of ADHD?
- developmental delay
- learning disabilities (dyslexia)
- autism spectrum d/o
- previous brain injury (ie, cerebral palsy)
What are medical conditions that are DDX of ADHD?
- iron deficiency anemia
- seizure d/o (esp petit mal=absence, staring spells that can't be distracted)
- lead poisoning
What are some other DDX of ADHD besides mental impairments or medical conditions?
- hearing/sight impairment
- family/school stress
- other psychiatric d/o
- med side effects
Why is a teacher's input often pivotal to making a diagnosis of ADHD?
- gives info to assess social/academic functioning
- obtain info by telephone interview/questionnaire
- use ADHD behavior rating checklists (connors scale, vanderbilt forms)
What is checked during the physical exam when evaluating for ADHD?
- growth & developmental delays
- eyesight & hearing abnormalities
- neurological deficits
What can parents and teach do help manage a child's ADHD? What therapy works the best according to an MTA study?
- Parents: positive feedback to child, appropriate discipline, encourage extracurricular participation
- Teacher: focused attention, clear & repeated instructions
- MTA: meds have the best outcome (meds + behavioral therapy> behavioral therapy alone> community based approach)
What are the psychostimulants used as pharmacotherapy in treatment of ADHD?
- methylphenidate (ritalin): concerta is a newer long acting formula
- dextroamphetamine (dexedrine)
- amphetamine/dextroamphetamine (adderall): slightly longer acting than ritalin, not more effective than ritalin or dexedrine
- atomoxetine (strattera): nonstimulant long acting med
- pemoline (cylert- stopped in '05): was known to cause liver dysfxn, use as a last line med
What are the antidepressants/other non stimulant meds used as pharmacotherapy in treatment of ADHD?
- SSRIs, TCAs, Buspar (NOT antidepressant, is an anti-anxiety), Strattera (SNRI): are used if stimulants are unsuccessful, but are much less effective
- most of the effect is likely due to tx of other underlying psychiatric conditions
What are the side effects of the stimulants used to tx ADHD?
- weight loss (appetite suppression)
- sleep disturbance (insomnia)
- increased BP & HR
- appearance of tics
- increased risk for suicidality, psychosis & mania
- possible decreased height (1cm less at 12 mo, 2cm less at 24 mo)
Which ADHD medication shows abuse potential? Have vitamin supplements, sugar free/caffeine free diets been shown to improve ADHD sxs?
- methylphenidate (ritalin)
- no improvement w/ special diet or supplements
Involuntary urinary incontinence in a child >5 yo.
What are the two types of enuresis?
- nocturnal (80%)
- diurnal (20%)
What type of enuresis is characterized by the pt never having been continent, and is usually physiologic?
primary nocturnal eneuresis
What type of enuresis is characterized by pt being continent for at least 6 mo and then starts with wetting again, and is more likely to be organic, although physiologic cause is still most common?
secondary nocturnal enuresis
What type of enuresis is more likely to have organic (neuro/urologic) etiology?
What is the prevalence of enuresis between boys and girls, and what is the prevalence by age? What percentage of these children have a positive family history for enuresis?
- Boy are 2-3 times more likely than girls
- Prevalence: 5 yo (15%), 10 yo (5%), 15 yo (1%)
- ~75% of these children have fam hx
What are some causes of primary enuresis?
- maturational delay: slow CNS development is the #1 cause, faulty or absent toilet training
- small bladder: age +2 yrs=size in ounces
- sleep cycle disorder: deeper sleep?
- vasopressin (ADH) deficiency: decreased secretion & response
What are the organic causes of secondary enuresis?
- GU: UTI (you MUST check UA, C&S), abnormal anatomy
- neurologic: seizures, spina bifida
- diabetes: polyuria
- encopresis: stool plug obstructing nl bladder outflow
What are some stresses that can cause secondary enuresis?
- psychological regression
- birth of a sibling
What things are you looking at during the physical exam to evaluate enuresis?
- growth & development
- abdominal exam
- genital exam (meatus-check for location, redness)
- rectal exam (sphincter tone, impaction)
- back (spina bifida)
- **Board question: you must always look at the urine when evaluating enuresis**
What lab tests would you order to evaluate enuresis?
- UA, UC (renal disease, DM, DI, UTI)
- CBC, FBS, Chem 7 if indicated
Aside from treating any underlying medical conditions, how is enuresis treated?
- behavior modification: positive reinforcement only, reassurance for pt and parent (often spontaneous resolution), calendar reward system
- conditioning therapy: bedwetting alarms (wee alert)
- pharmacotherapy: desmopressing (DDAVP) at bedtime, TCA (imipramine)
Repetitive passage of stool in inappropriate places after continence is achieved (~4 yo).
encopresis (slightly more common in males)
What is the etiology of encopresis?
- chronic constipation is #1 cause (80%)
- nonretentive soiling (emotion disturbances, situational)
- 95% of children referred to specialists have no underlying pathology
What is the clinical presentation for encopresis?
- child often denies incidents
- do thorough hx & workup similar to constipation (emphasis on psychosocial, family dynamics, signs of abuse, some kids don't want to stop playing to poop)
- exam should follow that of constipation (50% have fecal mass on abd exam, 90% have stool in vault, assess for rectal disease, assess neuro & lumbosacral area for abnormalities)
How is the diagnosis of encopresis made?
- no specific labs needed (only consider if hx dictates)
- KUB (kidney, ureter, bladder) recommended esp if abd mass is felt to confirm fecal mass size, placement & rectal dilation
- anal manometry, colonoscopy and/or barium enema only if Hirschspring's disease suspected
How is encopresis treated?
- behavior modification: regular BM encouraged after meals, reward system for younger kids, stooling diary
- dietary changes: increase fluids, fiber, exercise, decrease cow milk intake
- meds: same as tx for acute constipation
How is encopresis managed?
- main goal is to eliminate constipation (80% due to functional constipation): stepwise approach (takes many months), initial disimpaction must occur first (child must be pain free during BM), parental/pt education is crucial (avoid neg attitudes/scolding), F/U is key
- no laxatives needed in remaining 20%: treat psychosocial issues (dietary & behavior mods stressed)
What are the steps to medical management of constipation?
- step 1: admin laxative (day 1); mild (4 tsp miralax qam, Mg citrate, Mg 2), moderate (2 tbsp mineral oil qday, start 4 tsp miralax bid)
- step 2: reassess (day 3-5); mild (increase miralax by 1 tsp qam if there is no loose stool until it becomes loose), moderate (add fleets enema, then increase miralax as w/ mild case)
- step 3: bowel training (day 5-30); mild/mod (once stools loosen, maintain dose & have pt sit on toilet for 5 mins after meals)
- step 4: reassess @ 1 month; encourage continued tx and adequate fiber & water intake, then reassess as before monthly
- step 5: resolution (6 months); in no episodes for 1-2 months, taper miralax over 2 months
What are the two stages of normal sleep?
- NREM: I-IV from highest brain & body activity to lowest
- REM: period of high brain & body activity
How much time to infants, toddlers, children and adolescents spend sleeping?
- infants: 16 hours (no cycle)
- toddlers: 15 hours (1-3 hour nap)
- children: 9 hours
- adolescents: 9 hours
What event occurs during stage III-IV NREM sleep that the child has no memory of? What are some examples? What is the treatment?
- sonambulism (sleepwalking), somniloquy (talking in sleep), night terrors (not nightmares)
- no tx, all are self limiting
Chronic, excessive daytime sleeping regardless of activity or surroundings, with onset most commonly occurring at age 15-30 yrs.
What is the narcoleptic tetrad?
- sleep paralysis
- hypnogogic hallucinations
How is narcolepsy diagnosed?
- polysomnogram (early onset REM)
- multiple sleep latency test (MSLT)
- epworth sleepiness scale (self report)
What is the pharmacologic treatment for narcolepsy?
stimulants (dextroamphetamine, others)
What is central sleep apnea?
apnea of prematurity
What can cause obstructive sleep apnea in children?
- tonsil & adenoid hypertrophy
- craniofacial abnormalities
What is the clinical presentation of child with sleep apnea?
- poor sleep
- snoring (children shouldn't snore!)
- FTT in infants
How is sleep apnea diagnosed?
polysomnogram (EEG, pulse ox)
How is sleep apnea treated?
- Central: CPAP/drugs such as caffeine
- Obstructive: surgery, dental device, CPAP
What is the difference between a night terror and a nightmare?
- terror: no recall, high autonomic discharge, non-interaction w/ parent, non-REM sleep
- nightmare: recall, mild to moderate autonomic discharge, will interact w/ parent, REM sleep
The most common pediatric endocrine disease, and is the second most common chronic illness.
diabetes mellitus (type 1 makes up 70-80% DM in peds)
What is the genetic predisposition for a child developing type 1 diabetes mellitus?
- 35-70% of twin concordance
- HLA DR3 or DR4
What are the two separate findings that are required to diagnose diabetes mellitus?
- fasting glucose >126 mg/dL
- 2 hr post-prandial >200 mg/dL (or after 75g glucose load)
What lab findings show prediabetes?
- fasting glucose 101-126 mg/dL
- 2 hr post prandial glucose 141-199 mg/dL
- Hgb A1c 5.7-6.4%
What is the clinical presentation of diabetes mellitus?
- 3 polys (poly-dipsia, -uria, -phagia)
- weight loss (involuntary wt loss in child is a HUGE RED FLAG!)
- new onset enuresis
- fatigue, weakness, weight loss
- blurred vision
- yeast vaginitis
At what blood glucose level does urine glucose start to appear? What can possibly help differentiate type 1 from type 2 DM?
- blood glucose >180
- autoantibody screens
What is the treatment for diabetes mellitus (esp type 1)?
- long-acting insulin (lantus, levemir)
- intermediate prolonged insulin (ultralente)
- intermediate insulin (NPH or lente)
- short acting insulin (regular)
- very short acting insulin (novalog, humolog)
What is the activity of the different insulins?
- humalog: onset 15 mins, peak 30 mins-1 hr, duration 3-4 hrs
- hum (reg): onset 30 mins, peak 2-4 hrs, duration 4-8 hrs
- hum (NPH): onset 2-4 hrs, peak 6-8 hrs, duration 12-15
- ultralente: onset 4-6 hrs, peak 8-12 hrs, duration 15-18 hrs
- glargine (lantus): onset 2-4 hrs, peak 8-10 hrs, duration >24
What is the treatment regimen for diabetes mellitus?
- insulin SC bid (conventional): ~0.5U pre pubertal (nonketotic), ~1.0U adolescents (or w/ ketosis)
- dietary changes: regular balanced meals w/ snacks, avoid high carb loads
- exercise: increases cellular sensitivity to insulin, improves child's self esteem, helps avoid obesity
- education: improves compliance & regular monitoring
What are the goal glucose levels for home glucometer readings (3Xs a day) by age?
- <6 years: GLU 110-200 mg/dL, HgbA1c 7.5-8.5%
- 6-12 yrs: GLU 100-180 mg/dL, HgbA1c <8.0%
- >12 yrs: GLU 90-150 mg/dL, HgbA1c <7.5%
- **beware the "honeymoon" phase**
What are ACUTE complications of diabetes mellitus?
- hypoglycemia (most common): <60-70 mg/dL
- hyperglycemia in the morning (~0800): dawn phenomenon is common, somogyi phenomenon rare
Presents with vomiting, severe dehydration, Kussmaul respirations, acetone breath odor, impaired mental status, abdominal pain, weakness, coma, general mortality is 5-15%.
diabetic ketoacidosis (DKA)
How is DKA managed?
- fluids fluids fluids!: 20cc/kg bolus NS, repeat bolus if needed, then 1.5x maintenance (100 ml/kg 1st 10kg, 50 ml/kg 2nd 10kg, 20 ml/kg over 20 kg)
- insulin: 0.1U/kg/hr
- electrolyte management: expect hypokalemia, phosphorus replacement, expect hyperchloremia
- regular frequent monitoring: chem 7
What are chronic complications of diabetes mellitus?
- lipodystrophies @ inj sites: rotate often & regularly
- retinopathy: annual exams after 3 yrs of DM
- nephropathy: initially presents as microalbuminuria (special test), check annually after 3 yrs of DM
- neuropathy: annual foot exams (10g monofilament)
- increased risk for CAD: lipid profile annual, tx as indicated
- increased risk for thyroid disease: annual TSH
What is the general difference between DM 1 and DM 2 as far as insulin?
- DM 1 is too little insulin (autoimmune)
- DM 2 is too much insulin but poor tissue sensitivity (obesity)
What are the risk factors for developing DM type 2? What percentage of children with DM are type 2? What is the clinical presentation and treatment for DM type 2?
- Risks: obesity, sedentary lifestyle, african american, hispanic, pima indian (AZ)
- General: 115-20% of diabetic children (increasingly common due to rise in childhood obesity)
- Presentation: same as type 1, can present as DKA
- Tx: same as type 1, limited oral med data in children (most often use metformin or TZDs)
What is the medical definition for short stature?
height more than 3.5 SD below normal for age
What are examples of idiopathic causes for short short stature?
- constitutional growth delay (delayed bone age)
- heredity (normal bone age)
What are endocrine abnormalities that can cause short stature?
- growth hormone deficiency
- poorly controlled DM
- adrenal insufficiency (Addison's disease)
What are neonatal abnormalities that can cause short stature?
- achondroplasia (limbs proportionately <trunk)
- inborn errors of metabolism
- chromosome defects (ie, Turner's)
What conditions cause short stature with proportionate dysmorphic features present?
- Turner's syndrome
- Trisomy 21
- Russell-Silver syndrome
- Noonan syndrome
- DiGeorge syndrome
- Fetal alcohol syndrome
What conditions cause short stature with disproportionate dysmorphic features present?
- skeletal dysplasias
- spinal disorders
What conditions cause short stature with absent dysmorphic features and increased weight for height?
- GH deficiency
- Cushing's syndrome
- GH insensitivity
What conditions cause short stature with absent dysmorphic features and decreased/normal weight for height (FTT)?
- inadequate caloric intake
- chronic illness
- psychosocial deprivation
- anorexia nervosa
- bulimia nervosa
What are the two main disorders of puberty?
- precocious (too soon): can be central (CNS overproduction) or peripheral (sex hormones produced independent of central axis)
- delayed (late): usually central (inhibition of GnRH release from hypothalamus or pituitary problem)
What term describes onset of puberty >2.5SD before mean age for developing secondary sexual characteristics (breasts/testicle growth or pubes/ax hair, acne, odor)? What age is considered too soon for boys and girls to start puberty?
- precocious puberty
- <8 yo in females (10X greater incidence than boys); <9 yo in males
Polyostotic fibrous dysplasia, cafe au lait skin pigment, precocious gonadarche, occurs in boys more than girls.
What can cause central (brain or pituitary controlled) precocious puberty?
- idiopathic GnRH secretion (most common)
- constitutional (familial)
- CNS tumors (hamartomas, gliomas, etc)
What can cause peripheral (outside brain & pituitary controlled) precocious puberty?
- tumors of gonads or adrenals
- congenital adrenal hyperplasia (female neonates virilized, males normal at birth then get precocious penile growth)
- McCune-Albright syndrome
During physical exam of a child with precocious puberty, if adrenarche dominates (pubic & axillary hair, acne, adult body odor), what should you think is the source?
During physical exam of a child with precocious puberty, if testicular growth (>2.5 cm) or thelarche (then menarche) dominates, what should you think is the source?
During physical exam of a child with precocious puberty, if the testes are <2.5cm what does it suggest as a source?
adrenal or non-testicular androgen source
What should be included in the laboratory eval for children with precocious puberty?
- LH & FSH (elevated w/ central cause, low in peripheral cause)
- Baseline sex steroid levels (testosterone, estradiol, DHEAS)
How is precious puberty treated?
- tx underlying secondary cause
- most cases are idiopathic (central), refer to endocrinology, or use GnRG analogues (leuprolide) to suppress pituitary gonadal activity (menses cease, growth slows, sexual changes stabilize/regress)
- peripheral causes like McCune-Albright syndrome don't respond to GnRH analogues, instead use anti androgens (testolactone) or antiestrogens (tamoxifen)
What are complications of untreated precocity?
- short stature due to early closure of the epiphyses
- untreated, most will achieve height <5th percentile (DON'T DISMISS PRECOCIOUS PUBERTY!)
How would you confirm a central cause for precocious puberty (testicular/breast, period predominant)?
- high LH & FSH
- order MRI of the head
How would you confirm peripheral precious puberty (pubes, ax hair, acne, odor dominant)?
- order DHEAS
- MRI of adrenals
What are signs of delayed onset of puberty?
- no breast development by 13 yrs in girls
- no testicular enlargement by 14 yrs in boys
What is the most common cause of delayed onset of puberty?
- lack of response from hypothalamic pituitary gonadal axis
- **is it hypothalamus-pituitary? (hypogonadotropism-low LH & FSH), is it the gonads? (hypergonadotropism (high LH & FSH due to gonadal non responsiveness)
What causes hypogonadotropic hypogonadism delayed puberty?
- GnRH secretion inhibition: malnutrition (female athletic triad), stress, chronic disease (hypothyroidism)
- Hypothalamus/pituitary disease: idiopathic, tumors
What causes hypergonadotropic hypogonadism delayed puberty?
gonadal failure: Turner syndrome, Klinefelter syndrome, androgen insensitivity, polycystic ovarian syndrome (PCOS)
How is delayed onset puberty due to hypergonadotropism determined?
- HIGH LH & FSH
- Do karyotype (Turner's & Klinefelter's), exam and ultrasound to detect presence of gonadal organs
How is delayed onset puberty due to hypogonadotropism determined?
- LOW LH & FSH
- TSH, prolactin and head MRI to r/o CNS & metabolic pathology
What is the clinical presentation for congenital hypothyroidism (fetal thyroid abnormality-aplasia, hypoplasia)?
- most are normal at birth
- hx of respiratory distress, jaundice, poor feeding
- exam reveals hoarse cry, macroglossia, umbilical hernia, too lrg fontanels (>5 cm ant, >1 cm post), growth & developmental delay
What labs confirm the diagnosis of congenital hypothyroidism? How is it treated?
- often detected by state mandated blood tests (but not 100%), dx confirmed by high TSH, low T4 & T3
- treated with levothyroxine (synthroid), early tx essential to prevent long tern cognitive delays, recheck in 6 wks and adjust synthroid as needed
What are the general characteristic of acquired hypothyroidism?
- peak incidence 8-15 yo
- females 4X > than males
- pt presents w/ growth retardation, poor school performance, and firm, symmetric, non tender goiter
What is the most common cause of acquired hypothroidism?
chronic lymphocytic thyroiditis (Hashimoto's)
How is acquired hypothyroidism diagnosed? How is it treated?
- elevated TSH, low T4 & T3
- antithyroiglobulin & antithyroid peroxidase antibodies suggest disorder
- FNA confirms the dx (rarely needed)
- treated with levothyroxine, repeat testing q 6 wks during titration & annually once stable
What are the general characteristics of hyperthyroidism and what is the clinical presentation?
- presence of thyroid stimulating antibodies (autoimmune), peak incidence @ 12-14 yo, females 4X > than males
- presents with sxs similar to adults (wt loss, tremor, proptosis, skin, HR), poor school performance elicits eval
What are the causes for hyperthyroidism?
- graves disease (evolves to hypo)
- multinodular goiter
- acute thyroiditis
- exogenous ingestion of thyroxine (rare)
How is hyperthyroidism diagnosed and how is it treated?
- low TSH, elevated T4 & T3
- treated with propranolol (tachy, palpations, anxiety), methimazole (DOC) or propylthiouracil (PTU can cause granulocytopenia & lupus), radioactive iodine 131 (if methimazole/PTU ineffective after 2 yrs), rarely subtotal thyroidectomy (if radioablation ineffective)
At what time during gestation does gonadal differentiation occur?
9-13 wks (fetus defaults to female unless Y is present)
What gene causes testicles to develop instead of ovaries?
Y chromosome's SRY gene
What effect does testosterone secreted by the testicles have on the male fetus?
- stimulates development of Wolffian ducts (become vas deferens & prostate)
- causes Mullerian ducts (would have been fallopian tubes and upper vagina) to obliterate via mullerian inhibiting substance
- testosterone is converted to dihydrotestosterone (DHT) by 5 alpha reductase
What are the effects of DHT in the male fetus?
- labia fuses into a scrotum
- clitoris fuses into a penis
With abnormal gonadogenesis, what are the characteristics of pseudohermaphrodites (intersex) infants?
- ambiguous genitalia: configuration of genitalia is neither fully male nor female
- female pseudohermaphrodite: 46XX with ovaries & tubes, virilization of ext genitals, congenital adrenal hyperplasia is most likely (CAH)
- male pseudohermaphrodite: usually 46XY, ext genitals vary from female to male, hypospadius is common, testes can be abdominal, inguinal or in labioscrotal folds
With abnormal gonadogenesis, what are the characteristics of true hermaphrodites (intersex)?
both testicular and ovarian tissue can be identified in one person
How is a case of abnormal genitalia treated?
- treat adrenal crisis (low aldosterone, sodium & water) from congenital adrenal hyperplasia if present
- team approach involving specialists to determine underlying defect, surgical reconstruction options
Once diagnosis of abnormal gonadogenesis is made what can begin?
- surgical and hormonal correction
- reconstruction usually occurs ~2 yo
What are the three layers of the adrenal glands?
- glomerulosa (outer)
- fasciculata (middle)
- reticularis (inner)
What do excess mineralocoritcoids (salt), glucocorticoids (sugar), and androgens (sex) hormone level cause?
- mineralocorticoid (outer layer): low K, high Na, fluid retention, HTN
- glucocorticoid (middle layer): adiposity, weakness, purple striae, HTN, hyperglycemia
- androgen (inner layer): hirsutism, acne, virilization
Clinical presentation of vomiting, hypotension, abdominal pain, fever, dehydration, circulatory collapse, confusion, coma that rapidly progresses which can lead to death in mere hours (spontaneous recovery unlikely).
adrenal crisis (acute insufficiency)
What is the treatment for adrenal crisis (acute insufficiency)?
IV hydrocortisone initially, fine tune later with other agents (fluorinef, etc)
What are the causes for Addison disease (subacute hypo function)?
- hereditary: dysfunctional enzyme
- acquired: autoimmune destruction
What is the clinical presentation for Addison disease?
- systemic sxs: weakness, fatigue, pallor in some
- GI sxs: salt craving, vomiting, dehydration, FTT
- hyperpigmentation: not all cases
How is Addison disease diagnosed?
cortisol level (perform ACTH stim test/cosyntropin stim test)
How is Addison disease treated?
Adrenal insufficiency precipitated by rapid discontinuation of chronic oral corticosteroids.
- iatrogenic adrenal insufficiency
- (over 4 wks of oral prednisone or > 10-12 days high dose corticosteroid; <2 wks tx not a problem, but do a slow taper when stopping long term prednisone)
What are some conditions that may need steroids?
- nephrotic syndrome
- idiopathic thrombocytopenic purpura
Most common cause of "intersex" (virilized genitalia) in baby girls.
congenital adrenal hyperplasia (CAH)
What is the etiology of CAH?
- autosomal recessive 21-hydroxylase deficiency causes inadequate aldosterone & cortisol production
- low cortisol-->no ACTH shut off
- excess ACTH from pituitary overstimulates adrenal glands
- excess androgens are made-->external genitalia is virilized
What are the clinical features of CAH in girls? What happens if they are left untreated?
- can start developing pubic hair, deep voice, increased linear growth by 2 yo
- electrolyte & water disturbances due to deficient aldosterone production (adrenal crisis- hyponatremia, hyperkalemia)
What are the clinical features of CAH in boys?
- XY nl at birth then early penile enlargement
- electrolyte & water disturbances due to deficient aldosterone production (adrenal crisis- hyponatremia, hyperkalemia)
How is CAH diagnosed?
high 17-OH progesterone (karyotype shows mutation of chromosome 6)
How is CAH treated?
- hydrocortisone to suppress adrenal androgen production
- fludrocortisone (florinef) to supplement aldosterone
- cosmetic plastic surgery if needed
Adrenal over stimulation due to excess ACTH from pituitary (adenoma), treated with surgical excision.
Iatrogenic glucocorticoid excess (low ACTH) treated with slow steroid intake reduction.
What are some adrenal masses that can cause corticosteroid excess?
- adrenal carcinoma
- adrenal adenoma
What are the consequences of corticosteroid excess (sxs of cushing's)?
- central obesity
- purple striae
- buffalo hump
- moon facies
- glucose intolerance
- muscle atrophy
- fluid retention
- plethora (flushed, full face)
What is the #1 leading cause of childhood mortality? What is the second leading cause?
What is the clinical presentation of pediatric cancer and what are examples?
- fever: leukemia/ lymphoma
- vomiting: abd mass/ brain tumor
- constipation: abd mass
- cough: mediastinal mass
- bone pain: leukemia/ bone tumors/ neuroblastoma
- lymphadenopathy: leukemia/ lymphoma
- hematuria: Wilm's tumor
What are the different treatment options in cancer?
- surgical resection: helpful for solid tumors (lymphoma is an exception), may be aided by neoadjuvant or adjuvant chemo and/ or radiation
- chemotherapy: highly effective in most peds cancers
- radiation: less effective in pediatric tumors
Because cancer and its treatments weaken the immune system, children are predisposed for frequent and severe common infections as well and usual infections. What are some unusual infections children on cancer treatments can get?
- central catheter or port infections
- atypical pneumonia (pneumocystis jirovecii)
- human herpes virus infx (severe)
- cryptococcal meningitis
What is often the only symptom children on cancer therapy present with?
- **immunosuppressed children w/ fever should be work up and taken seriously!!**
Malignant proliferation of leukocytes, is the most common childhood cancer and has several subtypes.
What are the subtypes of leukemia in kids?
- acute lymphocytic leukemia (ALL): 75% of cases, more common in males, most common in children 2-5 yo
- acute myelogenous leukemia (AML): 15% of cases, most common in neonates, then late adolescence
- chronic myelogenous leukemia (CML): 5% of cases
What are important things to note in the history for a child presenting to the clinic with leukemia?
- bone pain
What may be seen on physical exam in a child with leukemia?
- pallor (anemia)
- petechiae/ purpura (low plts)
- local or generalized adenopathy
What are the laboratory findings with CBC, bone marrow exam and lumbar puncture in cases of leukemia?
- CBC: extremely high WBC count w/ lymphoblasts on peripheral smear, anemia +/- thrombocytopenia
- Bone marrow exam (diagnostic): homogeneous infiltration of leukemic blast cells
- Lumbar puncture: should always be performed to r/o CNS involvement
What are some differential diagnoses of leukemia?
- certain infections like EBV, CMV
- autoimmune disease like JRA
- transient erythroblastopenia of childhood (TEC)
- transient myeloproliferative disorder (common in Downs syndrome)
What makes the definitive dx of leukemia?
- bone marrow biopsy (subtyping done by flow cytometry and cytogenetics)
- **t(12:21) is most common w/ favorable prognosis
- **t(9:22) is less common w/ poor prognosis
What are the different phases of treatment for acute lymphocytic leukemia?
- induction phase (~1 mo): chemo (prednisone, vincristine, daunorubicin, methotrexate), intrathecal chemo for CNS involvement
- consolidation phase: systemic chemo, cranial radiation for CNS disease
- continuation therapy (total ~2 yrs): daily, weekly, and monthly pulse doses
- bone marrow transplant post chemo: may be required
What are complications of treatment for acute lymphocytic leukemia (ALL)?
- immunosuppression, infection
How is acute myelogenous leukemia treated?
- standard ALL chemo is not helpful
- pts must undergo intense induction therapy
- continuation therapy is not helpful
- bone marrow transplants are most often recommended
What determines the prognosis for leukemia in children?
- WBC count & age
- Poor indicators: <2 yo, >9 yo; >50,000 WBC; CNS involvement; T(9:22)
What is the most common lymphoma? What pediatric population does it typically affect?
- Hodgkin's lymphoma
What lymphoma typically affects children >5 yo with increasing incidence with age?
What are the subtypes of Non-Hodgkin's lymphoma?
- B cell (Burkitt's)
- T cell
- Large cell
What is thought to play a causative role in both Hodgkin's and non-Hodgkin's lymphoma?
EBV (highly associated w/ Burkitt's)
What is the clinical presentation of lymphoma as far as pt history?
- "B symptoms" (fever, night sweats, wt loss) has a poorer prognosis
- SOB (mediastinal nodes)
What is usually found on exam in pts with lymphoma?
- painless cervical & supraclavicular adenopathy
- presence of a pleural effusion
What labs and imaging studies are used to diagnose lymphoma?
- CBC (usually normal)
- tissue biopsy (Reed-Sternberg cells=Hodgkin's lymphoma)
- mediastinal mass on CXR or CT
- CT used for staging disease
What are Reed-Sternberg cells usually derived from?
How is Hodgkin's lymphoma treated?
- low dose chemo & field radiation
- prognosis of 5 yr survival >90% (stage I & II)
How is non-Hodgkin's lymphoma treated?
- more aggressive & persistent chemo than w/ Hodgkin's (surgery & radiation rarely used)
- prognosis of 5 yr survival >60% (>90% w/ early detection), and depends on child's age
What are the 2nd most common malignant neoplasms in children?
Why is it that although many CNS tumors are "histologically benign" they need to be treated aggressively?
- because of their location
- children <2 yo: 65% are infratentorial, 35% are supratentorial
- childrean >2 yo: more likely spinal/supratentorial location
What is the clinical presentation of children <2 yo with acute or chronic CNS tumors?
- acute (rapidly growing, bad locale): vomiting, lethargy, irritability, ataxia
- chronic (slower growing): macrocephaly, hyperreflexia, cranial nerve palsies, wt loss
What is the clinical presentation of children >2 yo with supratentorial or infratentorial CNS tumors (lesions)?
- supratentorial: visual sxs (field deficits), seizures (generalized/partial), focal neurological deficits, personality changes
- infratentorial: hydrocephalus & increased ICP (papilledema), cranial nerve palsies, ataxia
What is the most common type of brain tumor? Where is it usually found? What is the prognosis for this type of tumor?
- astrocytomas (glioma)
- posterior fossa
- often low grade w/ good prognosis
What is the 2nd most common brain tumor? Where is it usually found? What is the prognosis for this type of tumor?
- meduloblastomas (glioma)
- cerebellar vermis
- often high grade w/ variable prognosis
What is the work up for brain tumors?
- careful neuro PE (almost always positive)
- CT, MRI are diagnostic
- LP, xray, EEG (non specific) NEVER DO LP PRIOR TO IMAGING!
What is the treatment for brain tumors?
neurosurgical & pediatric oncology referral
What are some unique complications of brain tumor treatment?
- cerebellar mutism: self limited irritability, ataxia and mutism post op
- posterior fossa syndrome: HA and aseptic meningitis 1-2 wks post op
- somnolence syndrome: self limited, lasts for months post irradiation
What is the most common solid childhood neoplasm outside the CNS, and the most common malignancy in kids age 0-3 yrs (avg 20 mo)?
What type of cells are neuroblastomas derived from?
cells that form the adrenal medulla & sympathetic nervous system
Where can neuroblastomas occur?
anywhere sympathetic nervous tissue is found
What is the clinical presentation as far as pt history in children with neuroblastomas?
- fever, irritability
- bone pain due to mets
- Horner's syndrome
- abd mass/ pain (textbook)
What is found on exam in a child with a neuroblastoma?
- wt loss
- vasoactive peptides (HTN, diarrhea, opsomyoclonus-dancing eyes & feet)
- intra-adrenal-->abd mass that is poorly defined & extends beyond midline
- extra-adrenal-->mediastinal, neck, pelvic or paraspinal mass
What labs and imagining studies diagnose neuroblastoma?
- CBC may show mild anemia due to mets
- urine catecholamines (90% make this)
- CXR or KUB (stippled calcifications)
- CT (inferolateral kidney displacement common from adrenal origin as opposed to Wilms tumor)
How are neuroblastomas treated?
What is the prognosis of neuroblastomas?
- 5 yr survival depends on stage, pt age, cell type, etc
- variable prognosis (5-95%), is better with younger age
What is the 2nd most common abd tumor with neuroblastoma being #1? Where does it originate from? What other anomalies is it associated with? What age group is it common in?
- nephroblastoma (Wilm's tumor)
- originates from kidney (7% are bilateral)
- often associated w/ WAGR syndrome (W-wilms, A-aniridia, G-gu malformation, R-retardation)
- mostly in children 2-5 yo
What is the clinical presentation as far as pt history for Wilms tumor?
- rapidly enlarging abd mass +/- pain (abd mass often found by parent)
- painless hematuria
What is the clinical presentation of Wilms tumor on exam?
solid, firm, well defined abd mass that doesn't cross midline
What imaging studies are used to diagnose Wilms tumor?
- abd CT or US to define mass margins
- chest CT to r/o pulm mets
What is the treatment of Wilms tumor?
- surgery (mainstay or tx)
- chemo (pre & post op)
- radiation for advanced stages (III-IV)
What is the prognosis for Wilms tumor?
- related to age and stage (there is a histologic anaplastic variant w/ poor prognosis)
- 90% 5 yr survival overall
Tumors from bone or from soft tissues of the musculoskeletal system (muscle, fat, fibrous tissue).
What are the different types of sarcomas in kids?
- soft tissue (muscle, fibrous, fat tissue): rhabdomyosarcoma is most common
- bone: osteosarcoma is the most common, ewing sarcoma is second most common
What are some syndromes associated with increased risk for sarcomas?
- Li-Fraumeni (both)
- neurofibromatosis (soft tissue)
- retinoblastoma (heritable form increases osteosarcoma risk)
What is the clinical presentation for rhabdomyosarcoma (skeletal muscle)?
sxs dependent on site of involvement (GU, head & neck, extremities)
What is the clinical presentation for osteosarcoma?
- pain & mass at site (often epiphyses)
- distal femur> proximal tibia> proximal humerus
- sxs often initially attributed to trauma
What is the clinical presentation for ewing sarcoma?
- multicentric tumor causing pain & fever
- sxs often attributed to osteomyelitis
- can be any bone, often femur and pelvis
What is a classic word/pattern linked to osteosarcoma?
What is the classic pattern for the appearance of ewing sarcoma on xray?
"onion skin" or "moth eaten"
What are the techniques used to diagnose sarcomas after biopsy?
- light microscopy: rhabdo & ewing are small, round blue cell tumors like neuroblastoma; osteosarcomas contain osteoid material
- immunohistochemical & cytogenic analysis: differentiates rhabdo & ewing (which shows T11:22 95% of time)
What are the histologic subtypes of rhabdomyosarcoma?
- embryonal: often in young pts w/ GU & head/neck tumor
- alveolar: often in older pts w/ extremity tumor
What is the treatment for rhabdomyosarcoma?
surgical resection w/ post op chemo & radiation depending on stage & site
What is the treatment for osteosarcoma?
- surgical excision after neoadjuvant chemo
- adjuvant chemo & radiation not usually helpful
What is the treatment for ewing sarcoma?
similar to osteosarcoma except ewing is sensitive to radiation
What factors into the prognosis for sarcomas?
- stage (mets=poor prognosis)
- degree of tumor necrosis after neoadjuvant chemo
Hgb or Hct more than 2 SD below mean for age.
A drop of hgb/hct during first 6 months of life often misdiagnosed as anemia.
physiologic "anemia" of infancy
What are normal Hgb/Hct values by age?
- newborn: 18.5/ 56
- 2 mo: 11.2/ 35
- 2 yrs: 12.5/ 37
- 10 yrs: 13.5/ 40
What are the AAP and USPSTF recommendations for screening for anemia?
- AAP: screen infants 6-12 mo w/ Hgb
- USPSTF: screen "high risk" infants 6-12 mo (black, native american, alaskan, poverty/immigrant, premie or SGA infant)
What is the clinical presentation for a child with acute anemia?
- hypovolemic shock
- sudden jaundice (if hemolytic)
- hemoglobinuria (implies hemolysis), UA pos for blood no RBCs on micro exam
What is the clinical presentation for a child with chronic anemia?
- fatigue, poor exercise tolerance
- mild tachy, systolic murmr (only if severe)
- jaundice (RBC destruction)
- hepatosplenomegaly (sequestration)
What are general signs for clinical presentation of anemia?
- pallor (hgb <7)
- koilonychia (spoon nails)
What labs diagnose anemia?
- hgb/hct makes diagnosis
- MCV (micro/macro/nl)
- RDW (high-->RBC destr/hetero population, nl-->low production)
- WBC/plt (low in pancytopenia=abn bone marrow)
- peripheral smear confirms MCV, IDs abn structure
- retic count (>2%= nl bone marrow response to anemia)
What are common DDX for microcytic anemia (FLATS)?
- Fe deficiency anemia
- lead poisoning
- anemia of chronic disease
- sideroblastic anemia (rare)
How is Fe deficiency anemia worked up?
- if there's no chronic dz or Pb, start therapeutic & diagnostic trial of iron
- 4-6 mg/kg/day elemental iron
- reticulocystosis in 3-5
- increase hgb & hct in 1 mo
- tx for 3-4 mo
- further eval if no response
If you r/o lead and anemia of chronic disease based on history after no response to iron supplements what is the likely cause for the anemia?
How is sideroblastic anemia dx? What does it look like?
- bone marrow biopsy
- ringed sideroblasts on prussian blue stain
What is iron deficiency anemia usually due to in infants?
insufficient iron intake
Why should children <12 mo not consume cow's milk?
- it inhibits iron absorption
- is low in bioavailable iron itself
- may cause GI allergy & cause bleeding
If you see basophilic stippling on peripheral smear what do you suspect as the cause of anemia?
- lead poisoning
- **use screening questionnaire @ 12 & 24 mo, check level if positive**
What general tests can you use to help diagnose the cause for normocytic anemia?
For normocytic anemia, what can the RDW and peripheral smear help you categorize the possible causes into? What conditions cause normocytic anemia in each of those categories?
- decreased RBC production (RDW nl): transient erythroblastopenia of childhood, anemia of chronic disease (often microcytic), bone marrow failure (pancytopenia)
- increased RBC destruction (RDW high): G6PD, sickle cell (Hgb electrophoresis), spherocytosis (fragility test)
What does hemolysis cause?
- increased bilirubin (Hgb breakdown)
- increased free hemoglobin
- decreased haptoglobin (binds free hgb)
- possible hematuria
- maybe hyperkalemia
RBC hypoproduction due to BM suppression thought to be due to infection (erythroid hypoplasia), is usually slow onset over 1-2 months in children 1-4 yo (most asx), usually self limiting (oral steroid can help w/ refractory cases).
transient erythroblastopenia of childhood (TEC)
What are the infectious agents that can cause pancytopenia?
- Most commonly caused by parvo B19 (other causes are Hep A, B, C, EBV, HIV)
- usually results in severe aplastic crisis that lasts 1-2 weeks (more common w/ immunocompromised or sickle cell), treatment usually supportive (blood transfusion, etc)
What are common DDX for macrocytic anemias? (FLAHB)
- folate deficiency
- liver disease
- B12 deficiency
What is the workup and treatment for macrocytic anemias?
- workup: B12, folate, TSH, LFTs
- treatment: B12, folate replacement (should see improved CBC <1 wk), underlying thyroid/hepatic disorders
Failure to produce enough of the proper hemoglobin despite adequate precursor supply.
Insufficient production of normal Hgb due to decreased production of either alpha or beta globin components of hemoglobin.
What are the different chains of hemoglobin? What is normal hemoglobin and what are the abn combinations of the hgb chains?
- normal hgb (hgb A): a1b2, 4 alpha genes code for 4 alpha proteins, 2 beta genes code for 2 beta chains, each hgb A unit has 2 alphas and 2 betas
- alpha thalassemia ("A" sians): 1, 2, 3, or 4 mutated alpha genes on chromosome 16
- beta thalassemia ("B" lack): 1 or 2 mutated beta genes on chromosome 11
What are the 4 alpha thalassemia versions?
- 1 gene mutation (silent): completely asx, only detectable through genetic studies
- 2 gene mutations (alpha thal trait): asx, detectable through mildly decreased Hgb & Hct (decr MCV, incr RBC # with nl retic count, r/o Fe deficiency, nl electrophoresis)
- 3 gene mutations (Hgb H disease): moderately severe anemia, Hgb electro shows high Hgb H (b4), folic acid supplementation w/ occassional transfusion during crisis, genetic counseling
- 4 gene mutations (hydrops fetalis): incompatible with life, is one cause of hydrops which can also be cause by ABO/Rh incomp
What are the 2 types of beta thalassemias?
- 1 beta gene mutation (beta thal minor- heterozygous): 6 subvariants, most asx w/ avg Hgb ~7, Hgb electrophoresis high in A2 (2 alpha & 2 delta chains), controversy on whether to transfuse them
- 2 beta gene mutations (beta thal major- cooley's anemia): 2 beta gene deletion (homozygous), severe anemia w/ frequent crises needing regular transfusions by 2 mo, Hgb electro high for Hgb F (a2y2), iron overload is common (best asses w/ liver biopsy, Fe chelation helpful), marrow transplat curative if HLA matched sibling donor
Homozygous for Hgb S gene, with 90% Hgb S and 10% Hgb A.
- sickle cell disease (S/S)
- prevalent in 0.3% african americans
Heterozygous for Hgb S gene, with 40% Hgb S and 60% Hgb A, is usually asx.
- sickle cell trait (A/S)
- prevalent in 8% of african americans
What is the pathophysiology of sickle cell?
- Hgb S polymerizes at low pO2/low pH
- polymerization causes RBC distortion
- RBCs can't move efficiently through capillaries resulting in thrombosis, and sequestration
What is the clinical presentation of sickle cell in neonates?
- often present after 6 mo w/ dactylitis (hand-foot syndrome)
- sxs before 2 yo indicate poor prognosis
What is the clinical presentation for a pt with sickle cell going through a faso-occlusive episode?
- extremities in younger children
- chest, back & abdomen in older children
- avg is 1 admission/year/person but highly variable
- pain tends to recur in the same site in a given pt
Why doesn't sickle cell present at birth?
because of the presence of Hgb F for several months
What are some physical findings in a pt with sickle cell?
- splenomegaly: common by 4 yo, may resolve by teenage yrs as spleen auto infarcts and scars down
- dactylitis (digit inflammation): common in all age groups, infarction d/t vasocclusion
- priapism (>4 hrs erect): usually becomes more severe during teenage years, often leads to impotence
What are some of the complications of sickle cell?
- functional asplenia (sequestration): 95% functional asplenic by 5 yrs, incr susceptibility to encapsulated bacteria (sepsis #1 cause of death, salmonella osteomyelitis common)
- aplastic crisis: usually induced by viral infix, classically parvo b19
- splenic sequestration crisis: usually in infants <1 yo, rapid decr in H&H leading to hypovolemia and possible death
What are sickle cell pts commonly hospitalized for (acute management)?
- pain control (narcotics)
- fever (r/o sepsis)
- thrombotic complications (sequestration crisis, stroke, seizure)
What is the treatment for sickle cell?
- IV hydration
- transfuse when necessary
- abx as indicated (they are somewhat immunocompromised due to asplenia)
What is the chronic management for sickle cell?
- hydroxyurea: increases production of Hgb F (a2Y2)
- bone marrow transplant: if <16 yo w/ HLA matched sibling, can be curative
- prevention: prophylactic PCN from 2 mo to ~5 yo, immunizations essential, folate supplement
- specialty clinic referral: heme/onc
What is the pathophysiology for pyruvate kinase (PK) deficiency?
- PK is needed for anaerobic glycolysis
- w/o adequate ATP, RBC Na/K pumps fail
- imbalance of ions results in rigid RBC which is structurally unstable & degraded
What is the clinical presentation for pyruvate kinase deficiency?
highly variable degrees of anemia and jaundice (hemolysis)
How is pyruvate kinase deficiency diagnosed?
special testing for PK activity
What is the treatment for PK deficiency?
- neonates often need exchange transfusion
- splenectomy may be helpful in severe pts
What is the pathophysiology of G6PD deficiency?
- G6Pd keeps glutathione reduced (non oxidized)
- glutathione absorbs free radicals
- unabated free radicals damage Hgb, causing precipitation (Heinz bodies) resulting in RBC membrane fragility & hemolysis
What is the clinical presentation for G6PD deficiency?
- anemia & jaundice 24-48 hrs after ingestion of oxidizing compound (fava beans, sulfa drugs, ASA, primaquine, chloroquine)
How is G6PD deficiency diagnosed?
measurement of G6PD enzyme activity
What is the treatment for G6PD deficiency?
avoidance of oxidative drugs
Most common bleeding disorder of childhood, occurs in children 1-4 yo (most but any age possible) ~2 wks after viral infection (almost any virus but EBV & HIV common), probably autoimmune etiology (anti-plt IgG & IgM).
idiopathic thrombocytopenic purpura (ITP)
What is seen on PE in a pt with idiopathic thrombocytopenic purpura (ITP)?
- petechiae: lips/ buccal mucosa
- multiple bruises on skin
- external bleeding: epistaxis, bleeding gums, hematuria
What lab results can be expected in a pt with idiopathic thrombocytopenic purpura (ITP)?
- plt <50,000/uL (WBC, RBC nl)
- peripheral smear nl
- PT, PTT nl
- bone marrow biopsy nl (maybe incr megakaryocytes)
What is the treatment for ITP?
- none required in many cases (80% resolve w/in 6 months, observe for sepsis or severe bleeding)
- tx increases plts to prevent bleeding
- severe cases (plt <10,000) requires IVIG x 1-2 days ($$$ but works well), prednisone x 2-3 wks (alt or adjunct to IVIG), IV anti-D (experimental in Rh pos pts)
When is ITP considered chronic?
- if it lasts >6 months
- **r/o secondary causes (SLE, HIV), consider splenectomy for definitive tx**
Caused by factor VIII deficiency, more common of the conditions, 2/3 of cases are inherited, 1/3 spontaneous mutation.
Caused by factor IX deficiency, is rarer of the conditions.
Hemophilia types A & B are clinically _________.
- the same
- **variable severity based on lvl factor deficiency**
How is hemophilia diagnosed?
- coag studies: PTT prolonged, PT & BT nl, PTT returns to nl w/ mixing study
- factor assays: measure amount & function provides definitive dx
What is the treatment for hemophilia?
- risk modification (avoid trauma)
- factor replacement (in association w/ hematology)
- desomopressin (DDAVP) (increases factor VIII & vWF production, useful in mild-mod hemophilia A only)
Deficiency in quantity or function of von Willebrand's factor (vWF) which serves to bind platelets to the endothelium, and also transports factor VIII (prevents degradation).
von Willebrand disease
What are the subtypes of von Willebrand's disease?
- type 1: decreased production of vWF (autosomal dominant & most common)
- type 2: nl production but defective vWF
- type 3: no production (rare)
What is the clinical presentation for von Willebrand disease?
- bleeding usually mild & associated w/ trauma (maybe unrecognized trauma), bleeding gums after brushing; heavy menses, prolonged bleeding after trauma/tooth extraction
- type 3 may be severe & similar to hemophilia A & B (hemarthroses, etc)
What lab tests help with diagnoses of von Willebrand disease?
vWF quantity is measured & function is measured w/ ristocetin
How is von Willebrand disease treated?
- desmopressin (DDAVP) effective for type 1 & 2
- vWF concentrate for type 3 (do not use cryo)
Vasculitis of the small blood vessels esp skin, GI & renal vessels. Seen in ages 3-15 yrs, boys sl > girls. Could be due to autoimmune IgA reaction triggered by viral or bacterial URIs or meds.
- Henoch-Schonlein purpura (HSP)
- sometimes called "anaphylactoid purpura"
What is the clinical presentation of Henoch-Schonlein purpura (HSP)?
history (classic triad): purpura (usually palpable), abdominal pain, polyarthralgias
What is found on the exam for Henoch-Schonlein purpura (HSP)?
- "palpable purpura" (abrupt onset, esp lower extremities)
- renal & GI effects
- lower extremity edema
What are the ddx for Henoch-Schonlein purpura (HSP)?
- ITP (low plt count)
- abuse (pattern of skin findings)
- meningococcemia (febrile, ill)
Mucocutaneous lymph node syndrome (old term), with small to medium vessel vasculitis (cause unknown, likely autoimmune), and occurs in children 6 mo-5 yo (rare in >7 yo).
What is the clinical presentation of a case of ACUTE (1-2 wks) Kawasaki's disease?
- high fever >5 days (often >103)
- marked erythema of conjunctivae, oral mucosa, tongue, lips (strawberry tongue)
- cervical lymphadenopathy
- scarlatina-like rash <24hrs after fever appears
What is the clinical presentation of a case of SUBACUTE (1-2 wks) Kawasaki's disease?
- resolution of acute phase w/ skin desquamation
- increasing incidence of coronary artery aneurysms (increased risk if <1 yo or severe acute phase)
What is the clinical presentation of a case of CONVALESCENT (2-4 wks) Kawasaki's disease?
physical and lab resolution
Diagnosing Kawasaki disease includes fever for 5 or more days with 4 of what following changes?
- bilateral conjunctival injection
- one or more--> pharyngeal injection, dry fissured lips, injected lips, strawberry tongue
- one or more extremity changes--> peripheral erythema, peripheral edema, periungual desquamation, generalized desquamation
- cervical lymphadenopathy
- rash (primarily trunk)
What labs can you use to dx Kawasaki disease?
- blood culture, urine culture to r/o infection
- WBC, ESR and CRP often elevated
How is Kawasaki disease treated?
- IVIG (mainstay of therapy), goal is to prevent coronary aneurysm
- plus prednisolone (may be better than aspirin)
- plus aspirin (high dose in first 48 hrs, risk of Reye syndrome low & acceptable because other NSAIDs are not as effective)
What imaging study is used to help treat and prevent complications of Kawasaki's disease?
cardiac echo recommended q2-3 wks to assess for aneurysms for coronary artery aneurysms
Chronic, band-like headaches with no visual/GI/neurologic sxs, children continue to function well, and the neurological exam is normal.
tension HA (muscle contraction)
Paroxysmal, throbbing, unilateral, recurrent headaches that last for one to a few hours (or days), are often accompanied by nausea, vomiting, dizziness or vertigo, photophobia, visual auras. HAs often prostrating, and worsened by movement. Pts tend to have family history.
What are some "red flags" for headache pathology?
- "worst HA of my life"=SAH
- chronic, progressive HAs
- abnormal/ focal neuro exam
- sxs c/w meningitis/ encephalitis
- recurrent vomiting (poss migraine)
- AM headache (brain tumor)
- affected by position changes (pseudo tumor cerebri, poss migraine)
- occipital location
- no family hx of migraines
- exam c/w neurocutaneous syndromes
What is the workup for headaches in children?
- any child w/ tension HAs can be treated empirically (no imaging)
- children w/ migraines should have one time CT or MRI then be treated medically, if tx is ineffective and CT was neg, get MRI
- children w/ a red flag should have a CT or MRI
What lifestyle modifications are used to treat headaches?
- reduce caffeine intake gradually
- avoid triggers (foods, sleep changes, stress)
- early tx of pain important
How are NSAIDs used to treat headaches?
- they are good 1st line agents
- avoid daily use as they can cause rebound HAs
- ibuprofen may have quicker onset of action than APAP but both are equally effective
- avoid aspirin (Reye syndrome)
What HA medication consists of sedative (dichloralphenazone), sympathomimetic (isometheptene) and acetaminophen?
Midrin (not an NSAID) good for kids >8 yo
What antiemetics are used as acute treatment of migraines?
- promethazine: used most commonly due to low risk of dystonic reactions
- metoclopramide: useful prior to DHE therapy but may cause acute dystonic reactions
What migraine HA medications are only used infrequently in adolescents due to high risk of N&V and vasoconstriction (not FDA approved for kids) as acute treatment?
- DHE & Reglan are often used for severe inpatient abortion therapy (less nausea IV)
- **DHE available in nasal spray, IM & IV (Ergostat and po Cafergot also available)**
What migraine HA medications are not FDA approved for kids <18 yo, but are considered safe from age 12 on, and are available as nasal and subcutaneous formulations which are more effective than tabs as acute treatment of migraines?
When should you consider offering prophylaxis for migraine HAs?
if >4 episodes per month
What can you offer as prophylaxis for migraine HAs?
- propranolol: used most often due to success in adults, avoid in asthmatics & diabetics
- TCAs: may consider in place of propranolol
- valproic acid: perhaps avoid due to side effect profile & required LFT monitoring
- periactin (cyproheptadine)
- verapamil (calan, others)
- topamax (topiramate)
What are some migraine prophylaxis meds that are different from what is normally used?
- effective: petasites (purified butterbur plant extract)
- probably effective: magnesium supplements, MIG19 (extract of feverfew), riboflavin supplements
- possibly effective: Co Q 10
What are the different seizures disorders?
- generalized (begins diffusely): tonic-clonic/ grand mal, absence/ petit mal
- partial (begins focally): simple-no altered consciousness, complex-altered consciousness
- febrile seizure (type of generalized)
- epileptic syndromes in kids
What are the etiologies for seizures?
- idiopathic (75%)
- metabolic (hyperkalemia, hypoglycemia)
- infectious (encephalitis)
- CNS lesions (brain tumor)
- elevated temp (hyperthermia more often than fever)
What are the characteristics of tonic-clonic (generalized) seizures?
- tonic: brief cry, fall, LOC
- clonic: spastic, rhythmic, symmetrical shaking
Gradual return of consciousness after a tonic-clonic seizure.
- EEG may be normal when not seizing
How are children <1 yo and children >1 yo treated for tonic-clonic seizures?
- <1 yo: phenobarb
- >1 yo: valproic acid, carbamazepine
What are the characteristics of absence (petit mal) seizures?
- age 5-15 yrs
- develop a short-lived blank stare (poss eye movements or lip smacking)
- no post-ictal state
- EEG shows 3 Hz spike and dome/ wave
How are absence (petit mal) seizures treated?
- valproic acid
What type of partial seizure has one area or body part initially involved, may exhibit "Jacksonian march" or generalized progression, and no LOC or post-ictal state?
simple partial seizures
How are simple partial seizures treated?
- phenobarb (Lamictal or Keppra)
What type of partial seizures cause altered consciousness, may have more complex movements, longer duration and post-ictal state present?
complex partial seizures
How are complex partial seizures treated?
- phenobarb (Lamictal or Keppra)
What is the acute treatment for seizures?
- ABCs: IV access, monitoring equipment
- prevent injury to self/others
- treat status epilepticus before the actual seizure
- check for hypoglycemia, infection (CBC), renal dysfunction (UA, chem 7), hypocalcemia
How is status epilepticus treated?
- diazepam 0.3-0.5mg/kg IV over 1-5 mins
- midazolam 0.1-0.3mg/kg IM, IV, IN, buccal
- phenytoin 10-20mg/kg IV over 5-20 mins
- phenobarbitol 5-20mg/kg IV
What is the workup for seizures?
- r/o meningitis/ encephalitis in febrile pt (perform CT 1st if focal neurologic signs or papilledema, LP in pt w/ incr ICP can herniate brain through foramen magnum)
- MRI (imaging of choice for detecting brain lesions in subacute setting)
- EEG (useful but can be falsely neg & pos)
Which seizures are common in 2-5%, are related to the rate of rise in temp (not max temp), and has slight increased risk of occurring from MMR in the 14 days after immunization?
What are the two types of febrile seizures and what are their characteristics?
- simple: generalized tonic-clonic seizures (no focality), lasts <15min, only happens once in 24hr period, no hx of previous neurologic problems
- complex: focal features, lasts >15min, >1 in 24hr period, hx of previous neurologic problem (ANY of these)
What is the clinical presentation for febrile seizures?
- 6 mo to 6 yo (most common 12-18 mo)
- temp >100.4F (usually >102)
- no CNS injury
- viral infection common (esp HHV 6)
How are febrile seizures managed?
- support airway & monitor during seizure (give benzo if >5mins)
- full H&P w/ neuro exam after seizure ends
- may tx w/ antipyretics, but not necessary
- routine labs unnecessary
- always r/o meningitis as cause through H&P (do LP for meningeal signs/depressed lvl of consciousness)
How are febrile seizures treated based on disposition?
- simple: no further tx needed, send home w/ education & routine FU
- complex: strongly consider LP, neuroimaging & neuro consult
What is the rationale for febrile seizure treatment?
- antipyretics & benzo's prophylaxis don't decrease rate of primary or secondary febrile seizures
- risk of recurrence greatest if seizure is recurrent, complex, early in life (<12 mo)
- overall epilepsy risk 2% with ONE simple febrile seizure, but ~7% if febrile seizure is recurrent or complex
- febrile seizures don't cause brain damage
Tonic seizures in 3-8 mo usually around awakening or going to sleep, "hypsarrhythmias" are seen on EEG.
West syndrome (infantile spasms)
Multiple seizure types with MR in children <7 yo (idiopathic etiology).
Teenager with morning myoclonic activity +/- petit mal seizures.
Juvenile Myoclonic Epilepsy
Simple partial seizures involving the face & arm or throat areas, often occur at night or after awakening.
benign Rolandic episodes
What are some conditions that cause weakness & hypotonia by affecting the anterior horn cells?
- spinal motor atrophy
What are some conditions that cause weakness & hypotonia by affecting peripheral nerves?
- Guillian-Barre syndrome
- Charcot-Marie-Tooth disease
- tick paralysis
What are some conditions that cause weakness & hypotonia by affecting the neuromuscular junction?
- myasthenia Gravis
What are some conditions that cause weakness & hypotonia by affecting the muscles?
Muscle atrophy secondary to anterior horn cell degeneration, autosomal recessive inheritance with poor prognosis (no tx available, usually die from secondary infx).
spinal motor atrophy (Werdnig-Hoffman syndrome)
What are the type of spinal motor atrophies?
- variable age appearance
- Werdnig-Hoffman in early infancy is the most well know and severe
Clinical features of this disease include progressive atrophy & weakness, and absent reflexes with fasciculations.
spinal motor (muscular) atrophy (Werdnig-Hoffman)
Virus infects anterior horn cell, is endemic in only 4 countries as of 2012. Presents with fever, meningeal signs, myalgias, muscles spasms, followed by asymmetric flaccid paralysis. Death occurs by diaphragmatic paralysis.
Why is the IPV (shot form) of the polio vaccine the only way it is available today?
because oral polio vaccine caused cases of Vaccine Associated Paralytic Poliomyelitis (VAPP)
Acute, idiopathic peripheral polyneuritis, presents with ascending symmetric weakness and areflexia that often follows viral infection (probably autoimmune etiology-antiganglioside Ab), and is self limiting although residual weakness may persist.
How is Guillain-Barre syndrome treated?
- supportive (some require intubation)
- IVIG or plasmapheresis if severe
Genetic, chronic, progressive peripheral polyneuropathy (AD & X linked variants), presents with diminished DTRs, distal muscular atrophy/weakness progressing proximally, steppage/slapping gait, foot drop (common peroneal nerve), pes cavus, UEs can be affected (distal-dysgraphia), and some have sensory loss (vib, proprio, lt touch).
charcot-marie tooth disease
What is the treatment for charcot-marie-tooth disease?
supportive (foot bracing)
Caused by tick saliva toxin interference with nerve impulse transmission in the peripheral nerves, presents with rapid, ascending, flaccid, symmetric paralysis over 1-2 days.
What is the treatment for tick paralysis?
rapid & complete resolution after tick is removed
Autoimmune antibodies block acetylcholine receptors at the neuromuscular junction, presents with worsening facial weakness, ptosis throughout the day, dx confirmed by response to acetylcholinesterase inhibitors (Tensilon/edrophonium Test).
What are the types of myasthenia gravis?
- standard (adolescence)
- neonatal (mothers w/ MG- transitory)
- congenital type (not autoimmune, genetic)
What is the treatment for myasthenia gravis?
- acetylcholinesterase inhibitors (pyridostigmine)
- thymectomy (decreases Ab burden)
- oral steroid & immunosuppressive drugs
- plasmapheresis in severe disease
Due to toxin producing clostridium botulinum in infant's colon (no honey/canned foods <1 yr), seen mostly in 2-3 mo and presents with constipation, poor suck, lethargy at first and then flaccid weakness, respiratory compromise can also occur.
What is the treatment for botulism?
- supportive care
- abx for secondary infections only (cell lysis releases more toxin, avoid aminoglycosides as they are NMBs)
Weakness of muscle cells due to lack or abnormalities of dystrophin production.
What type of muscular dystrophy is X-linked, has onset at 2-6 yo, affects the proximal muscles of the pelvic girdle, then shoulder girdle resulting in clumsiness & easy fatigability then weakness of muscles (Gower's sign), causes pseudohypertrophy of calves and has a poor prognosis?
What type of muscular dystrophy is X-linked, has onset at >5 yo, tends to be milder compared to the other type, and has an improved prognosis compared to the other type?
What are some labs that can help diagnose causes of weakness and hypotonia?
- muscle enzymes: CK elevated in muscular dystrophy
- CSF: abnl in polio & Guillain-Barre; nl in tick paralysis, botulism, muscular dystrophy
- DNA blood tests for muscular dystrophy
What are the most common causes of pediatric head trauma death?
- #1 MVAs (board question)
- #2 Falls
What are the different types of head trauma?
- cerebral concussion
- cerebral contusion
- hematomas (epidural, subdural, sub-arachnoid)
- skull fxs
Transient neurological disturbance with headache being the most common symptom with or without vomiting, amnesia, LOC and with dizziness/off balance, disorientation and no focal neurologic deficits (nl CT-preferred imaging).
concussion (~mild TBI)
What are the characteristics of post-concussion syndrome?
- unclear thinking
- sleep disturbances for days to weeks after trauma
What is the Colorado concussion grading system? When can kids return to play?
- Grade I: confusion, no LOC or amnesia (first one return to play in 15 mins, subsequent 1wk)
- Grade II: confusion, post traumatic amnesia, no LOC (first one wait 1 wk, subsequent 2 wks w/ physician approval)
- Grade III: any LOC (IIIa first one wait 1 mo, subsequent 6 mo w/ physician approval; IIIb first one wait 6 mo, subsequent 1 yr w/ physician approval)
LOC >1 hr, more severe nausea, vomiting, coup/contracoup injury, seizures possible, focal neuro signs and abnormal CT.
Arterial bleed associated a with skull fracture
- epidural hematoma
- (classically middle meningeal artery after parietal blow, 6-18% due to abuse)
What is the clinical presentation of an epidural hematoma?
- "lucid interval"
- nl function for ~1 hr, then decompensation
- rare <2 yo
Tearing of the bridging veins draining into the dural venous lakes, may be focal and associated w/ fx or diffuse and associated w/ rotational injury, is more common in children <1 yo, often accompanied by fever and can cause seizures in 50-70% of infants.
- subdural hematoma
- (abused kids <2 yo more likely to have subdural than epidural hematoma, external evidence of trauma may be absent)
Ruptured subarachnoid vessel, rupture of A-V malformation (~70%) or berry aneurysm in Circle of Willis.
What is the clinical presentation of a subarachnoid hemorrhage?
- sudden onset of "worst HA of my life" often w/ N/V, stiff neck, photophobia
- CT shows diffuse bleeding in gyri & sulci
What is the most common type of skull fracture? How is it treated?
- may send pt home if neuro exam & CT are nl, or observe overnight in hospital
What are the skull fracture types besides linear?
- depressed: surgical elevation required if >5-10mm
- basilar: presents w/ epistaxis, hemotympanum, Battle's sign (mastoid), cranial nerve palsies
Why are xrays not recommended for skull fractures?
- they don't change management approach
- likelihood of child w/ skull fx & no LOC of having intracranial injury is low
What is the initial management for head trauma?
- emergency assessment: ABCs, quantify consciousness, vital signs
- PE (neuro emphasis), C spine precautions
- lab/imaging dependent on presumptive dx (protect/clear C spine, CT head, labs prn)
What is the Glasgow Coma Scale (GCS) (peds) for eye opening?
- 4 spontaneous
- 3 to speech
- 2 to pain
- 1 no response
What is the Glasgow Coma Scale (GCS) (peds) for motor response (painful stim)?
- 6 spontaneous/purposeful
- 5 withdraw from touch
- 4 withdraw from pain
- 3 decorticate
- 2 decerebrate
- 1 no response
What is the Glasgow Coma Scale (GCS) (peds) for verbal response?
- 5 smiles/coos/oriented
- 4 cries/confused
- 3 irritable/inconsolable
- 2 agitated/restless
- 1 no response
What are normal neurologic responses when testing pupillary reaction, oculovestibular reflex, and dolls' head maneuver?
- pupillary: nl response indicates intact midbrain function
- oculovestibular: cold water in one ear (tonic gaze to that side +/- nystagmus with rapid component to opposite side
- doll's head: intact brainstem keeps eyes foward focused despite head turning (clear C spine first!)
What are decorticate and decerebrate posturing?
- decorticate: flexion & supination of arms (midbrain control)
- decerebrate: extension & pronation of arms (pontine control)
How is head trauma with no LOC managed?
- full H&P with neuro exam
- no CT if exam nl
- discharge home when workup complete
How is head trauma with short LOC (<1 min) managed?
- full H&P with neuro exam
- no CT if exam nl
- observe with repeat neuro checks X 4hrs (think about neck)
How is head trauma with LOC >1 min managed?
- full H&P with neuro exam
- urgent head CT (pay attention to neck)
Which type of neurofibromatosis is due to an AD mutation on chromo 17 (codes for neurofibromin), is 50% familial, 50% spontaneous mutation, more common of the two types and is associated with neurofibromas?
NF type 1 (von Recklinghausen disease) "elephant man"
Which type of neurofibromatosis is due to an AD mutation on chromo 22 (codes for merlin), <1% familial (mostly spontaneous), is rarer of the two types, and is associated with schwannomas?
NF type 2
What is the clinical presentation of neurofibromatosis?
- late childhood (if at all) with 1/3 asx, 1/3 cosmetic complaints, 1/3 neurological problems
- **axillary freckling HIGHLY suggestive of this disease, also poss with cafe au lait spots**
What list of characteristics helps diagnose neurofibromatosis (need 2 or more for dx)?
- >6 cafe au lait spots (>5mm prepubertal, >15mm postpubertal)
- axillary freckling
- 2+ Lisch nodules (iris hamartoma)
- 2+ neurofibromas
- optic gliomas
- family history of neurofibromatosis
- osseus lesions (sphenoid dysplasia)
- (use cranial imaging to r/o neoplasms)
What is the treatment and prognosis for neurofibromatosis?
- tx: early, aggressive treatment of hypertension (rare)
- prognosis: avg lifespan ~40 yo, malignancy is ultimate cause of death
Autosomal dominant mutation on chromo 9 (makes hamartin) or chromo 21 (makes tuberin). Mutation in either will lead to this disease, both genes are tumor suppressors.
tuberous sclerosis (historically epiloia)
What is the clinical presentation for tuberous sclerosis?
- CNS manifestations: cerebral "tubers" & calcifications, seizures usually before 2 yo, cortical tubers, calcium deposition at gray-white junction
- skin manifestations: hypomelanotic macules (ash leaf spots), facial angiofibromas (adenoma sebacceum), lumbosacral plaques (shagreen patch-rough scaly on back or butt)
- renal manifestations: renal angiomyolipomas (hematuria)
How is tuberous sclerosis diagnosed and treated?
- dx: xray, CT/MRI, biopsy of skin lesions
- tx: supportive, including seizure meds
What is the prognosis for tuberous sclerosis?
- progressive neuro dysfunction (seizures, MR)
- death either from proliferation of giant subependymal tumors or malignant renal carcinoma
- lifespan high variable
Comprised of "port wine stain" on upper face (must include forehead & upper eyelid), venous angioma of occipital-parietal meninges, and choroidal angioma.
What is the presentation for Sturge-Weber disease?
- visible facial agioma only
- development of ipsilateral glaucoma
- focal seizures, hemiparesis contralateral to cerebral lesion
- tx with surgery if cerebral angiomas are symptomatic (seizures)
Minor lumbosacral neural tube defect (hair tuft) with no neurological signs or symptoms.
- spina bifida occulta (rachischisis)
- **check for connecting sinus, increases risk for meningitis**
Lumbosacral neural defect causing meningocele (meninges herniate through neural arch), meningomyelocele (meninges & cord herniate through neural arch), myeloschisis (open skin, cord exposed).
spina bifida (aka spinal dysraphism)
How can spina bifida be prevented? How is it treated?
- give folate to women wanting to become pregnant or who are pregnant
- treated with neurosurgery (refer!)
What neurologic symptoms are associated with spina bifida?
- depends on level and extent...
- skin anesthesia
- sphincter laxity
Cerebellar tonsils protrude down through foramen magnum into spinal canal, is asx early in life, causes ataxia & vertigo in older children, and obstruction to CSF flow which causes hydrocephalus.
Arnold-Chiari malformation Type 1
What is a type 2 Arnold-Chiari malfomation?
type 1 plus lumber meningomyelocele
What is a type 3 Arnold-Chiari malformation?
type 1 plus occipital encephalocele
Premature closure of cranial sutures.
What is the treatment for craniosynostosis?
elective surgery at 6 mo
Increased CSF volume that presents with macrocephaly, irritability, vomiting, anorexia, lower extremity spasticity, papilledema, "setting sun" gaze and bulging fontanel.
What are the types of hydrocephalus? How are they treated?
- communicating (with subarachnoid) or noncommunicating (obstructed)
- ventriculoperitoneal shunt
What sign in particular is indicative of hydrocephalus?
setting sun gaze
Increased ICP with normal CSF and normal anatomy (ventricles nl size, incr ICP can mimic tumors in presentation-HA, papilledema).
pseudotumor cerebri (aka benign intracranial hypertension)
What are the etiologies of pseudotumor cerebri (benign intracranial hypertension)?
- CSF drainage problems
- metabolic disturbances
- **classic case is an obese young girl taking tetracycline for acne**
How is pseudotumor cerebri treated?
- tx underlying cause
- reduce ICP (LP after imaging) is both diagnostic & therapeutic (may be repeated)
- wt loss, acetazolamide, corticosteroids can be helpful
- VP shunt if severe
What are the complications of pseudotumor cerebri?
lack of tx often leads to optic nerve atrophy & blindness (papilledema)