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KMID : 1151120240320020130
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Annals of Child Neurology
2024 Volume.32 No. 2 p.130 ~ p.134
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Neurological Characteristics of Allgrove Syndrome: A Case Series
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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
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Abstract
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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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KEYWORD
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Achalasia addisonianism alacrimia syndrome, Neurologic examination, Pallidopyramidal syndrome, Electromyography
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