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13 Cards in this Set
- Front
- Back
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Clinical Familial Dysautonomia
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Synonym
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Riley Day syndrome
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Inheritance
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Autosomal recessive; IKBKAP gene on 9q31 q33
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Prenatal
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DNA analysis
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Incidence
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1:3700 Ashkenazi Jews; M=F
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age at presentation
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Infancy to early childhood
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Pathogenesis
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Mutations on IKBKAP gene are responsible for phenotype; probable developmental arrest of unmyelinated sensory and sympathetic neurons with autonomic dysfunction
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Clinical
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Skin
Macular erythema increased on trunk, limbs with excitement, eating; hyperhidrosis; burns secondary to pain indifference; cold hands and feet Craniofacial Alert expression with decreased blink frequency, straight upper lip with smile Gastrointestinal Absence of fungiform papillae on tongue; excessive salivation; absent taste sensation; oromotor incoordination with poor suck at birth, tendency to misdirect and aspirate fluids, difficulty chewing, and drooling; gastroesophageal reflux; 40% exhibit vomiting crises associated with htn when stressed |
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Clinical
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CNS
Hypotonia in infancy, decreased dtr, insensitivity to pain, labile hypertension, orthostatic hypotension without compensatory tachycardia, clysarthria, prolonged nocturnal enuresis into the teens, breath holding spells, normal intelligence Eyes Decreased corneal sensation/tear flow with corneal ulceration Lungs Excessive bronchial secretions, recurrent asp i rations/i nfections; pulmonary failure MSK Short stature, scoliosis, kyphosis, increased incidence of aseptic necrosis |
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D/Dx
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Congenital sensory neuropathy; congenital universal indifference to pain; other chronic pulmonary diseases of childhood
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Lab
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Histamine skin test: 0.01 mL of 1:10,000 histamine injected intradermally wheal without axon flare or pain; pilocarpine eyedrop test: 0.0625% pilocarpine eyedrops induce immediate pupillary constriction; increased urinary homovanillic acid to vanilly1mandelic acid ratio
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Management
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Close follow up with primary care physic ian artif icial tears, avoidance of aspiration, maintenance of proper nutrition with funcloplication, feeding gastrostomy; watch for musculoskeletal problems, orthostatic hypotension, vomiting "crises" Referral to orthopedist scoliosis, fracture and joint repair
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Prognosis
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Fifty percent mortality before 30 years old resulting from pulmonary problems; adults at risk for cardiopulmonary arrests because of sympathetic and/or renal failure
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