Pediatric Syndromes and Vascular Malformations

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cxuofa
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62859
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Pediatric Syndromes and Vascular Malformations
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2011-02-07 18:37:34
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pediatric syndromes craniosynostosis hemangiomas vascular malformations
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Pediatric Syndromes and Vascular Malformations
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  1. Thyroglossal Duct Cysts are due to...
    Arise from failure of thyroglossal duct obliterate at around 5th to 8th week of gestation.
  2. Proximal and distal attachment of thyroglossal duct cyst:
    • Proximally: forament caecum
    • Distally: pyramidal lobe of thyroid and anywhere in the midline between the two
  3. Epidemiology of Thyroglossal duct cysts
    • No sex predilection
    • <1% midline
    • 1/3 present as submental or low cervical masses
    • Usually <2 cm
  4. Malignant transformation of thyroglossal duct cyst to...
    Papillary thyroid carcinoma
  5. Surgical management of thyroglossal duct cyst
    • Sistrunk procedure:
    • Excision of portion of hyoid bone + cyst + proximal trunk to base of tongue.
  6. FGFR-related craniosynostosis:
    • 8 disorders:
    • FGFR1: Pfeiffer syndromes
    • FGFR2: Apert syndrome, Beare-Stevenson syndrome, Crouzon
    • FGFR3: Crouzon with Acanthosis nigricans, FGFR3-related isolated coronal synostosis, Muenke syndrome)
  7. FGFR-related craniosynostosis are inherited in an:
    Autosomal dominant manner
  8. Craniosynostosis and neurologic/neurosurgical issues:
    • Premature fusion of sutures
    • Abnormal shape of skull
    • Restricted brain growth
    • Increased intracranial pressure
    • Hydrocephalus
    • Intracranial hypertension (esp. Crouzon Syndrome)
  9. Airway issues of craniosynostosis:
    • Midface hypoplasia
    • Diminished nasal and nasopharyngeal spaces
    • Forced mouth breathing of infants
    • Elongated and ptotic palate (Apert syndrome)
    • Central, obstructive, and mixed sleep apnea
  10. Dentition issues and craniosynostosis:
    • Dental and oral anomalies
    • High-arch palate with constricted width (Apert Syndrome)
    • Clefting (submucous, incomplete, complete)
    • Delayed dental eruption
    • Limited maxillary alveolar bone
    • Severe crowding
    • Angle Class III bite
  11. Hearing issues in craniosynostosis
    • Crouzon: conductive due to aural atresia, SNHL
    • Pfeiffer: OME, meatal atresia, ossicular fixtion
    • Apert: otitis media common, cleft palate can result in eustachian disorder; Congenital fixation of stapedial footplate
  12. Mucopolysaccharidosis
    Family of metabolic disorders caused by deficiency of lysosomal enzymes needed to degrade glycosaminoglycan
  13. Types of Mucopolysaccharidosis
    • Type I – Hurler Syndrome (most common MPS)
    • Type II (aka Hunter Syndrome)
    • Type III – Sanfilippo (A, B, C, D subtypes)
    • Type IV – Morquio (A, B)
    • Type VI – Maroteaux-Lamy syndrome
    • Type VII – Sly syndrome (beta-glucuronidase deficiency)
    • Type IX – Natowicz syndrome (hyaluronidase deficiency)
  14. Type I MPS has 3 subtypes:
    • Hurler Syndrome (most severe)
    • Hurler-Scheie Syndrome
    • Scheie Syndrome (lease severe)
  15. Symptoms and signs of MPS I
    • Facial dysmorphism (coarse facial features, scaphocephalic, frontal bossing, depressed nasal bridge)
    • Hypertelorism
    • Corneal clouding
    • Hepatomegaly
    • Valvular heart disease
    • Developmental delay
    • Hearing Loss
    • Skeletal deformities
    • Phalangeal dysostosis, synovial thickening, joint stiffness
  16. MPS II
    • Hunter Syndrome
    • X-linked Recessive
    • Chromosome 10
    • Iduronate sulfatase deficiency
    • Type A and B
  17. MPS I
    • Chromosome 4
    • Alpha-L-iduronidase deficiency
    • Increased urinary heparan sulfate and dermatan sulphate
    • Autosomal recessive
    • 1/100,000
  18. Laryngeal Cleft
    Fissure between the laryngotracheal and pharyngoesophageal systems
  19. Classification of Larygeal Clefts
    Benjamin and Inglis Classification

    • Type I – supraglottic interarytenoid
    • cleft ABOVE level of TVC
    • Type II – cleft extends below the
    • TVC into the upper cricoid cartilage
    • Type III – cleft extends through the
    • cricoid cartilage +/- extension into cervical trachea (extrathoracic)
    • Type IV – cleft extends into the
    • thoracic trachea and extends toward the carina (intrathoracic)
  20. Type O Laryngeal cleft is a:
    Submucosal cleft
  21. Epidemiology of Laryngeal Clefts
    • 0.5% to 1.6 of laryngeal abnormalities (rare)
    • Males > Females
    • 60% seen in conjunction with other abnormalities (TEF, tracheomalacia)
  22. Symptoms of Laryngeal Clefts
    • Swallowing - aspiration, cyanosis with feeding
    • Pharyngolaryngeal - stridor, toneless cry, weak cry, pharyngeal hypersecretions
    • Respiratory - dyspnea, recurrent aspiration, respiratory distress
  23. Syndromes associated with laryngeal clefts
    • G Syndrome
    • Pallister Hall Syndrome
    • VACTERL
    • CHARGE
  24. Typical Features of Down Syndrome
    • Brachycephaly
    • Upslanting palpebral fissures
    • Brushfield spots
    • Flat facial profile
    • Small nose and depressed nasal bridge
  25. Other features of Down Syndrome:
    • Mental retardation (variable IQ)
    • Hypotonia
    • Ligamentous laxity
    • Congenital heart disease (50% - AVSD, VSD)
    • Single palpar crease
    • Hypothyroidism, leukemia, duodenal atresia, Hirschsprung
  26. Otologic features of Down Syndrome
    • Small ears
    • Narrow EACs
    • Increased glue ear
    • Non-reproducible OAEs
    • Abnormal ossicles
    • Mixed HL, SNHL
  27. Airway features of Down Syndrome
    • Macroglossia
    • Airway obstruction from small psoterior nsal spine
    • Large tonsils and adenoids
    • Smaller subglottis
    • Unstable atlanto-occipital joint
  28. Otolaryngologic Features of Pierre Robin
    • Cleft palate
    • Retrognathai and micrognathia
    • Airway obstruction
    • Small open mouth
    • Prominent nose with squared-off nasal tip
  29. Genetics of Treacher Collins Syndrome
    • Autosomal dominant
    • TCOF1 gene
    • High proportion sporadic / new mutations
  30. Features of Treacher Collins syndrome
    (First and second arch abnormalities)
    • Bilateral, symmetric and congenital:
    • Microtia, dysplastic ears
    • Auricular pits/fistulas/tags
    • CHL (aura atresia, malformation of ossicles)
    • Micrognathia
    • Mandibular hypoplasia
    • Cleft palate
  31. Nasal/Facial features of Treacher Collins
    • Flat malar region
    • Prominent nose
    • Broad mouth
    • Narrow nasopharynx
    • Choanal atresia (rare)
  32. Opthalmologic Features of Treacher Collins
    • Downslanding palbebral fissures
    • Coloboma of inferior eyelid
    • sparse eyelashes
  33. Goldenhar Syndrome is...
    • Oculo-auriculo-vertebral syndrome
    • Hemifacial microsomia
    • First and second arch syndrome
  34. Otolaryngologic Features of CHARGE
    • Microtia
    • Pre-auricular skin tags
    • Skin tags
    • Deafness
    • Macrostomia (+/- lateral facial clefting)
  35. General features of CHARGE
    • Colboma
    • Heart defect
    • Atresia chonae
    • Retardation of growht
    • Genital defect
    • Ear anomalies
  36. Genetics of CHARGE
    • 1/12,000
    • Mutation in gene CHD7 in 65% of cases
    • Most due to new mutations
  37. Otologic features of CHARGE
    • Ossicular abnormalities
    • Protruding, asymmetric pinna
    • Temporal bone abnormlaities (absent or hypoplastic SCCs)
    • SNHL (mild to profound)
  38. Genetics of Branchio-oto-renal syndrome
    • Autosomal dominant
    • EYA1 gene mutations
    • Less commonly SIX-1 gene
  39. Otologic features of Branchio-oto-renal syndrome
    • Prehelical pits, dysplastic pinna
    • CHL (ossicular chain malformations)
    • SNHL (modini dysplasia, dilated vestibular aqueducts)
    • Mixed HL
    • Branchial fistulae or cysts
  40. Renal features of BOR syndrome
    • Duplex collecting system
    • Hydronephrosis
    • Dysplastic kidnes
    • Unilateral or bilateral renal agenesis
  41. DiGeorge Syndrome is also known as
    • 22q11.2 Deletion syndrome
    • Velocardial facial Syndrome
    • Shprintzen syndrome
  42. Genetics of 22q11.2 deletion syndrome
    • Microdeletion syndrome
    • Autosomal dominant
    • Variable penetrance
    • 90% from new mutations (de novo deletion)
  43. Palatal abnormatlies of DiGeorge syndrome
    • Overt or submucous cleft palate
    • VPI
    • Hypernasal speech
  44. Otologic abnormalities of DiGeorge
    • Small, low-set ears
    • Prominent/overfolded helices
    • Absent or hypoplastic ear lobules
    • Pre-auricular tags
    • Otitis media
    • SNHL
    • Narrow EACs
  45. Airway Anomalies of DiGeorge Syndrome
    • Upper airway obstruction
    • Laryngeal web
    • Vascular Ring
    • Laryngomalacia
  46. General Features of DiGeorge
    • Prominent nasal bridge, bulbous nose, long face
    • CHD
    • Mental retardation, developmental delays
    • Short stature
    • Feeding difficulties
    • Psychiatric illness
    • Immune deficiency
    • Hypocalcemia secondary to parathyroid dysfunction
  47. Genetics of Alport Syndrome
    • X-linked mutations
    • Collagen IV
    • Can also have autosomal recessive and dominant forms
  48. Otologic features of Alport Syndrome
    • High-tone SNHL (mild to moderately severe)
    • 83% of males
    • 57% of females
    • Progressive deterioration during school-age
  49. Diagnostic Criteria of Neurofibromatosis
    • 1. Bilateral vestibular schwannomas
    • 2. First degree relative with NF2 and unilateral vestibular schwannoma OR
    • Two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
    • 3. Unilateral vestibular schwannom AND two of above
    • 4. Multiple meningomas AND unilateral vestibular schwannoma
  50. Types of Hemangiomas
    • Infantile
    • - Single, multiple
    • - Reticular

    • Congenital
    • - RICH
    • - NICH
    • (but infantile hemangiomas can have a "herald" lesion at birth)
  51. Clinical Features of Infantile Hemangioma
    • Benign tumour of the endothelium
    • Are acquired vascular lesions
    • Most common tumour of infancy
    • Risk factors: Cacucasion, prematurity, female
  52. Distribution of infantile hemangioma
    • 80% single versus 20% multiple
    • 60% involve head and neck
    • 25% involve trunk
  53. Pattern of Behaviour of Hemangiomas
    • 3 phases:
    • Proliferative (usually achieves 80% of size by age 3; typically rapid growth in first 4 weeks)
    • Involuting phase
    • 50% involute by 5 years, 70% by 7 years, and 90% by 9 years
    • Involuted (involution has completed) - residual hemangiomas/telangiectasias may be present
  54. Head and neck complications of hemangiomas
    • Ulcerated lesions
    • Injury to hair follicles leading to alopecia
    • Descruction of near by tissue
    • Periorbital lesions can cause ambylopia
    • Occlusion of EAC - otitis externa
    • Subglottic hemangioma causing airway obstruction
  55. Multiple hemangiomas can occur in the following sites:
    Liver, lung, GI
  56. RICH Subtype of Hemangioma
    • Rapidly involuting congenital hemangioma
    • Proliferates in Utero and is fully developed at birth
    • Completely involute during the second year of life
  57. PHACE Assocation is....
    • Affects 2.3% of people with infantile hemangioma
    • Plaque-like IH in a segmental or trigeminal dermatomal distribution
    • P = Posterior fossa brain malforamtion
    • H = hemangioma
    • A = arterial cerebrovascular anomalies
    • C = Coarctation of the aorta/cardiac defects
    • E = eye and endocrine abnormalities

    8% have stroke in infancy; 42% have structural brain abnormality
  58. Management of Hemangiomas
    • Observation for 90% that are small, not affecting aesthetics
    • Woundcare for ulcerated hemangiomas (e.g. anogenital, labial, neck)
    • Topical corticosteroid - minimal efficacy
    • Intraleasional corticosteroid - effective for small, well-localized IH
    • Systemic corticosteroid - avoid if possible, can have rebound proliferation
    • Propranolol - no RCTs, but effective in proportion of patients; no protocol
    • Embolization for large lesions causing high-output congestive heart failure
  59. Potential side-effects of propranolol
    • Excessive bradycardia (ensure pt does not have prolonged QT)
    • Bronchospasm
    • Hypoglycemia
    • Headaches
    • Hypotension
  60. Laser and Infantile Hemangioma
    • Pulse-dye laser is CONTRAINDICATED during the proliferative phase
    • - poor penetration, can cause skin atrophy, hypopigmentation

    Used during involuted phase to treat RESIDUAL telangiectasias
  61. Surgical Management of Infantile Hemangiomas
    Limited due to high risk of bleeding, destruction of surrounding structures

    Usually reserved for management of residual fibrofatty tissue, redundant skin, or damaged structures after involution

    Indicated if:well localized, anatomically safe, and lesion causing significant issue (e.g. ulceration, alopecia)
  62. Feature of Congenital Hemangioma
    • Different appearance from IH:
    • It is red-violaceous, course telangiectasias
    • Central pallor
    • Peripheral pale halo
    • More common in extremities; equal sex distribution, solitary
  63. Types of Congenital Hemangioma
    • RICH and NICH
    • RICH = rapidly involuting
    • NICH = non-involuting
  64. Types of Beningn Vascular tumours
    • Infantile Hemangioma
    • Congenital Hemangioma
    • Kaposiform hemangiomendothelioma (KHE)
    • Pyogenic granuloma
  65. KHE or Karposiform hemangioendothelioma
    • Benign, locally aggressive vascular neoplasm
    • Does NOT metastasize
    • Develops during infancy
    • Occurs in ages 1 to 10
    • Equal sex distribution
    • Solitary, inolves head/neck > tunk > extremity
    • 50% have KMP (Kasabach-Merrit Phenomenon of thrombocytopenia, petechiae, bleeding)
    • Medical treatment with vincristine is first-line
  66. Clinical Presentation of Subglottic Hemangioma
    • Asympatomatic during first weeks of life
    • Present during proliferative phase (6 to 12 weeks)
    • Biphasic stridor
    • Respiratory distress
    • Normal voice
    • Normal swallowing
    • Difficulty feeding
    • Cough can mimic croup
  67. Relationship of SGH with Infantile Hemangioma
    • 50% of those with SGH have infantile Hemangioma
    • 5 to 9% of those with infantile hemangioma will have SGH
  68. Histology of Hemangiomas
    Endothelial cells with high GLUT1 (erythrocyte-type glucose transporter) expression

    Will see endothelial cells, pericytes, fibroblasts, interstitial cells, and mast cells on histology
  69. Therapies of Subglottic Hemangioma
    • Systemic Steroid
    • Interferon alpha-2a (antiproliferative angent that inhibits angiogenesis)
    • - Sideeffects: fever, myalgia, hepatic trasaminitis, transient neutropenia, spastic diplegia
    • Tracheostomy only for refractory cases
    • Endoscopic laser resection (CO2) is successful in 90%
    • - but high rate of subglottic stenosis
  70. Types of Tracheomalacia (Pediatric)
    • Primary (tracheal dyskinesia)
    • Secondary
    • - Esophageal atreasia +/- TEF
    • - External compression by:
    • Cardiac/vascular anomaly
    • Mediastinal mass/tumour
  71. Tracheomalacia caused by compression by cardiac structures can occur by:
    • Complete rings (double aortic arche, Neuhauser anomaly)
    • Incomplete rings (innominate artery, retroesophageal right subclavian, aberrant left pulmonary artery)
    • Dilatation of the pulmonary arteries and left atrium
  72. Classification of Tracheomalacia by "Type"
    • Type I - Congenital or intrinsic tracheal abnormalities (+/- TEF)
    • Type II - Extrinsic defects of anomalies
    • Type III - Acquired tracheomalacia (prolonged intubation, chronic tracheal infections, inflammatory conditions - polychondritis)
  73. Clinical features and Presenting Symptoms of Tracheomalacia
    • Expiratory stridor after a few weeks of life ("laryngeal crow")
    • - worse with supine position, crying, and respiratory infections

    • Feeding difficulties
    • Hoarseness, aphonia, and breathing
    • History of: prolonged intubation, tracheostomy, chest trauam, recurrent tracheobronchitis, cartilage disorder, lung resection
  74. Lymphatic malformations
    • Type of vascular malformation
    • Theories include:
    • - failure of lymphatic system to separate from venous system
    • - dysregulation of lymphatic endothelial cell growth
  75. Distribution of lymphatic malformations
    • 75% in the head and neck
    • 50 - 60% diagnosed antenatally or at birth
    • Other common areas: axilla, abdominal wall
    • If later presentation, likely due to trauma or infection
  76. Imaging modality most useful for lymphatic malformations
    • MRI
    • T1 shows non-henahncing signal similar to muscle signal
    • T2 shows nonenhanced high signal; without feeding and draining vessels seen in hemangiomas
  77. Difference between Microcystic and Macrocystic lymphatic malformations
    Microcystic - <2 cm cystic spaces; bilateral, suprahyoid; higher cmplication and lonterm sequelae rates

    Macrocystic- >2 cm cystic spaces, unilateral, infrahyoid; better response rates to surgery or sclerotherapy
  78. Prenatal diagnosis of lymphatic malformation common in the following conditiosn
    • Turners
    • Down Syndrome
    • Patau Syndrome
    • Trisomy 13
  79. Predictors for bad outcomes in lymphatic malformations
    • Large bilateral "beard distribution" malformations
    • mucosal involvement
  80. Major complications of "beard distribution" ly mphatic malformations
    • Primary bone involvement; mandibular deformities
    • Tongue involvement causing hypertrophy and bleeding (airway compression, feeding and speech issues)
    • Parotid and FOM involvement
  81. Treatment Options for Lymphatic malformations
    • Conservative may be appropriate for favourable lymphatic malformations (unilocular, macrocystic posterior lateral can involve spontaneously)
    • Sclerotherapy
    • Surgery especially for macroystic lesions in the posterior inferior neck
    • Systemic steroids and antibiotics to treat infection
  82. Sclerotherapy Agents include:
    • OK-432
    • Doxycycline
    • Bleomycin (can cause pulmonary fibrosis_
    • Ethanol (nerve injury)
    • Sodium tetradecyl sulfate
  83. OK-432 is...
    • lyophilized low-virulence GAS pyogenes
    • inactivated by heating with penicillin
  84. Features of venous malformations
    • Vascular malformation
    • Usually has blueish overlying skin or mucosal hue
    • Compress easily
    • Enlarge with valsalva maneuver
    • Present at birth
    • Growth triggered by trauma, infection, and hormonal influences
  85. MRI findings of venous malformation
    Bright signal on T2 imaging
  86. Arteriovenous malfmormations are
    • Fast flow lesions with direct AV shunting
    • Triggered by infection, trauma, or hormonal chnages
    • Classified into four potential stages:
    • dormancy, expansion, destruction, and heart failure

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