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Allgrove syndrome: an Egyptian family with two affected siblings

Authors
  • Gebril, Ola H.1, 2, 3
  • 1 Dept. of Research on Children with Special Needs
  • 2 Medical Division
  • 3 National Research Centre
Type
Published Article
Journal
Egyptian Journal of Medical Human Genetics
Publisher
Elsevier
Publication Date
Jan 01, 2014
Accepted Date
Oct 29, 2013
Volume
15
Issue
1
Pages
91–94
Identifiers
DOI: 10.1016/j.ejmhg.2013.10.003
Source
Elsevier
Keywords
License
Unknown

Abstract

BackgroundAllgrove or AAA (Triple A) syndrome is a rare autosomal recessive disease characterized by achalasia, alacrima, adrenocorticotrophic insufficiency and some neurologic abnormalities. Case reportHere we report two brothers 13 and 15years old, with variable features of the syndrome, with prominent neurological symptoms which started in the first decade and, led to motor paralysis and severe muscle wasting in the elderly brother in the second decade of life. Moderate achalasia developed at 9years in the older brother and showed a slowly progressive course with development of chest pain and dysphagia. Alacrima was not evident before the age of 12years.The neurological symptoms were less severe in the younger brother. He suffered alacrima that started at age of 11years and mild dysphagia due to achalasia at age of 12years, both being slowly progressive.This paper highlights early features of this syndrome among Egyptian population and the importance to exclude Allgrove syndrome in the presence of progressive neurological dysfunction. To concludeAllgrove syndrome should be suspected in patients with neurological impairment associated with any of the main symptoms of the syndrome (alacrima, achalasia and adrenal insufficiency).

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