Ann Child Neurol.  2024 Apr;32(2):130-134. 10.26815/acn.2024.00458.

Neurological Characteristics of Allgrove Syndrome: A Case Series

• Salah DB
• Elleuch M
• Trimeche O
• Zargni A
• Kallabi F
• Sakka S
• Mnif F
• Rekik N
• Charfi N
• Kamoun H
• Feki MM
• Kacem FH
• Abid M

• KMID: 2554110
• DOI: http://doi.org/10.26815/acn.2024.00458

Abstract

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.

Keyword

Achalasia addisonianism alacrimia syndrome; Neurologic examination; Pallidopyramidal syndrome; Electromyography