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).
Highlights
Production and hosting by Elsevier sia, autonomic disturbance, and ACTH insensitivity being the common features [1]
The prevalence of Allgrove syndrome is unknown, only scattered family and case reports were noted in the literature
An autosomal recessive inheritance of Allgrove syndrome is suspected with variable presentation
Summary
Production and hosting by Elsevier sia, autonomic disturbance, and ACTH insensitivity being the common features [1]. Sometimes adrenal insufficiency or other features may be delayed to adulthood, but adult cases with Allgrove’s syndrome commonly present with neurological disease that affects multiple neurological systems [3]. The disease is thought to be caused by mutation in the AAAS gene on chromosome 12q13, which encodes ALADIN protein (a part of the nuclear pore complex), resulting in an impaired protein function. Further studies are still needed to elucidate the precise cellular/molecular pathways that are disturbed in this disorder. The aim of this case report is to describe two Egyptian brothers with Allgrove syndrome, with different clinical presentation and different age of the onset. Consent of the parents as well as the ethics committee of the National Research Centre (NRC) was obtained
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
