Neurologic presentation of triple A syndrome.

Abstract:

:"Triple A" syndrome is a rare, autosomal recessive condition whose main clinical features are alacrima, achalasia, and adrenal failure. Most patients also develop some neurologic abnormalities. We describe an 11-year-old boy with triple A syndrome who presented with progressive axonal motor neuropathy. Molecular analysis revealed compound heterozygous mutations in the AAAS gene, confirming the clinical diagnosis. The clinical presentation of patients with triple A syndrome is variable. Our patient manifested neurologic problems during early childhood, before other features of this condition were apparent. We highlight the neurologic presentation of this multisystem disorder. In the presence of complex axonal neuropathy, other features of this condition should be sought.

journal_name

Pediatr Neurol

journal_title

Pediatric neurology

authors

Dixit A,Chow G,Sarkar A

doi

10.1016/j.pediatrneurol.2011.07.003

subject

Has Abstract

pub_date

2011-11-01 00:00:00

pages

347-9

issue

5

eissn

0887-8994

issn

1873-5150

pii

S0887-8994(11)00316-X

journal_volume

45

pub_type

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