RILEY-DAY SYNDROME
 
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RILEY-DAY SYNDROME

 

DEFINITION:

A familial dysautonomia characterized by infantile hypotonia, autonomic crises, and other neurological manifestations.

EPIDEMIOLOGY:

  • incidence: 1/10,000-20,000 (in Eastern European Jews)
  • age of onset:
    • infancy
  • risk factors:
    • familial - autosomal recessive
      • chrom.#: ?
      • gene: ?

PATHOGENESIS:

1. Genetic Defect

  • genetic defect -> ? etiology -> reduced number of peripheral nerves ->

1. Small unmyelinated nerve fibres which carry:

  • pain - insensitivity to pain, traumatic injuries
  • temp - poor body temperature control
  • taste - reduced number or absence of taste buds
  • autonomic function - autonomic crises

2. Large myelinated nerve fibres which carry:

  • input from muscle spindles - ataxia, clumsy walk
  • input form Golgi tendon organs - absent deep tendon reflexes (DTR)

PATHOLOGY:

1. Nerve Biopsy (Sural Nerve)

  • reduced number of:
    • small unmyelinated nerve fibres
    • large myelinated afferent nerve fibres

CLINICAL FEATURES:

1. Neurological Manifestations

1. Infancy

  • infantile hypotonia
  • poor suck and swallow +/- failure to thrive (FTT)
  • feeding difficulties with aspiration pneumonia

2. Childhood (1-5 years)

1. Autonomic Crises

  • begin after 3 years of age
  • attacks of cyclic vomiting lasting 1-3 days
  • retching/vomiting occur q15-20 minutes associated with:
    • apprehension/irritability
    • blotchy erythema of skin
    • hematemesis
    • hypertension
    • profuse sweating
    • gastric distention (pain, respiratory distress)

2. Breath-Holding Spells

  • common in first 5 years
  • may be followed by syncope or seizure

3. Generalized Seizures (in 40% of patients)

  • may be triggered by breath-holding spells, extreme fevers, or idiopathic

4. Traumatic Injuries

  • with insensitivity to pain
  • newly erupting teeth -> tongue ulcerations
  • lack of overflow tearing -> punctate keratitis, corneal hypesthesia, breakdown, scarring, and ulceration, optic atrophy

5. Ataxia

  • with gross motor delays
  • walking delayed and clumsy
  • absent tendon stretch reflexes

6. Poor Body Temperature Control

  • associated with hypothermia and extreme fevers

7. Others

  • delayed onset of puberty
  • enuresis
  • excessive sweating and blotching erythema of skin at mealtime or when excited
  • intellectual impairment
  • speech slurred or nasal

INVESTIGATIONS:

1. Imaging Studies

1. Chest X-Ray

  • atelectasis, similar to cystic fibrosis

2. Urine

  • decreased VMA, elevated HVA

3. EEG

  • seizure activity in 40% of patients

4. Diagnosis

  • exaggerated pressor response to IV norepinephrine
  • exaggerated hypotension to IV methacholine
  • lack of axonal flare response to intradermal injection of 1:1000 (children) or 1;10,000 (infants) histamine phosphate
  • instillation of 2.5% methacholine into conjunctival sac produces miosis (nonspecific sign of parasympathetic denervation)

MANAGEMENT:

1. Supportive

  • multidisciplinary approach
    • Paediatrics - moniter for respiratory and gastrointestinal difficulties
      • manage autonomic crises:
    • Neurology - moniter hypotonia, ataxia, seizures, breath-holding spells
    • Ophthalmo. - methylcellulose eye drops or topical ocular lubricants to replace tears and prevent corneal ulcerations

2. Autonomic Crises

  • chlorpromazine as an antiemetic
  • bethanechol for cyclic vomiting, enuresis, and tear production
  • correct dehydration and electrolyte disturbances

3. Prognosis

  • poor with most patients dying in childhood of chronic pulmonary failure or aspiration

 

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