Neurological Characteristics of Allgrove Syndrome: A Case Series

• 영문명: Neurological Characteristics of Allgrove Syndrome: A Case Series
• 발행기관: 대한소아신경학회
• 저자명: 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
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』vol.32 no.2, 130~134쪽, 전체 5쪽
• 주제분류: 의약학 > 소아과학
• 파일형태: PDF
• 발행일자: 2024.04.30

영문 초록

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.

키워드

Achalasia addisonianism alacrimia syndrome Neurologic examination Pallidopyramidal syndrome Electromyography