Allgrove syndrome : an Egyptian family with two affected siblings
Author
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 15, Issue 1 (31 Jan. 2014), pp.91-94, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2014-01-31
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Topics
Abstract EN
Background : Allgrove or AAA (Triple A) syndrome is a rare autosomal recessive disease characterized by achalasia, alacrima, adrenocorticotrophic insufficiency and some neurologic abnormalities.
Case report : Here we report two brothers 13 and 15 years 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 9 years 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 12 years.
The neurological symptoms were less severe in the younger brother.
He suffered alacrima that started at age of 11 years and mild dysphagia due to achalasia at age of 12 years, 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 conclude : Allgrove syndrome should be suspected in patients with neurological impairment associated with any of the main symptoms of the syndrome (alacrima, achalasia and adrenal insufficiency).
American Psychological Association (APA)
Jibril, Ola H.. 2014. Allgrove syndrome : an Egyptian family with two affected siblings. The Egyptian Journal of Medical Human Genetics،Vol. 15, no. 1, pp.91-94.
https://search.emarefa.net/detail/BIM-360532
Modern Language Association (MLA)
Jibril, Ola H.. Allgrove syndrome : an Egyptian family with two affected siblings. The Egyptian Journal of Medical Human Genetics Vol. 15, no. 1 (Jan. 2014), pp.91-94.
https://search.emarefa.net/detail/BIM-360532
American Medical Association (AMA)
Jibril, Ola H.. Allgrove syndrome : an Egyptian family with two affected siblings. The Egyptian Journal of Medical Human Genetics. 2014. Vol. 15, no. 1, pp.91-94.
https://search.emarefa.net/detail/BIM-360532
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 93-94
Record ID
BIM-360532