Neurological Characteristics of Allgrove Syndrome: A Case Series
In: Annals of Child Neurology, Jg. 32 (2024), Heft 2, S. 130-134
Online
academicJournal
Zugriff:
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.
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Neurological Characteristics of Allgrove Syndrome: A Case Series
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Autor/in / Beteiligte Person: | Dhoha Ben Salah ; Elleuch, Mouna ; Trimeche, Oumeyma ; Zargni, Asma ; Kallabi, Fakhri ; Sakka, Salma ; Mnif, Fatma ; Rekik, Nabila ; Charfi, Nadia ; Kamoun, Hassen ; Mouna Mnif Feki ; Faten Hadj Kacem ; Abid, Mohamed |
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Zeitschrift: | Annals of Child Neurology, Jg. 32 (2024), Heft 2, S. 130-134 |
Veröffentlichung: | Korean Child Neurology Society, 2024 |
Medientyp: | academicJournal |
ISSN: | 2635-909X (print) ; 2635-9103 (print) |
DOI: | 10.26815/acn.2024.00458 |
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