Neurological Characteristics of Allgrove Syndrome: A Case Series

Autor: Dhoha Ben Salah, Mouna Elleuch, Oumeyma Trimeche, Asma Zargni, Fakhri Kallabi, Salma Sakka, Fatma Mnif, Nabila Rekik, Nadia Charfi, Hassen Kamoun, Mouna Mnif Feki, Faten Hadj Kacem, Mohamed Abid
Jazyk: English<br />Korean
Rok vydání: 2024
Předmět:
Zdroj: Annals of Child Neurology, Vol 32, Iss 2, Pp 130-134 (2024)
Druh dokumentu: article
ISSN: 2635-909X
2635-9103
DOI: 10.26815/acn.2024.00458
Popis: Purpose Allgrove syndrome, also known as “triple A” syndrome, is characterized by adrenal insufficiency, achalasia, and alacrimia. When neurological signs are also present, the condition is referred to as “4 A” syndrome. Methods We conducted a retrospective analysis of three patients with 4 A syndrome confirmed genetically. A complete neurological exam was carried out by an experimented neurologist. Results Herein, we describe the neurological characteristics often associated with this condition, through the clinical and electrophysiological analysis of three patients. All patients exhibited a mutation in AAAS, the gene coding for ALADIN. While these individuals presented with the classic features of triple-A syndrome, neurological symptoms were not prominent. Conclusion The neurological manifestations of Allgrove syndrome have historically been overlooked and inadequately explored. Due to the condition’s rarity and substantial phenotypic heterogeneity, only recently have a variety of symptoms been recognized and described.
Databáze: Directory of Open Access Journals
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