Rare Diseases Symptoms Automatic Extraction

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

[triple a syndrome]

Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13.We present the case of a 12 year-old boy with classic systemic features of triple-A syndrome and several prominent ophthalmic features, including: accommodative spasm, dry eye, superficial punctate keratopathy, and pupillary hypersensitivity to dilute pilocarpine. MRI showed small lacrimal glands bilaterally. DNA sequencing of PCR-amplified fragments from the 16 exons of the AAAS gene revealed compound heterozygosity for a new, out-of-frame 5-bp deletion in exon 15, c1368-1372delGCTCA, and a previously-described nonsense mutation in exon 9, c938C>T, R286X.In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction.

Diseases presenting "and" symptom

  • achondroplasia
  • adrenomyeloneuropathy
  • aniridia
  • carcinoma of the gallbladder
  • cutaneous mastocytosis
  • cystinuria
  • esophageal squamous cell carcinoma
  • harlequin ichthyosis
  • hodgkin lymphoma, classical
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kallmann syndrome
  • liposarcoma
  • locked-in syndrome
  • neonatal adrenoleukodystrophy
  • omenn syndrome
  • oral submucous fibrosis
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • triple a syndrome
  • trochlear dysplasia

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