■Allgrove综合征(AS)(AAA综合征)是一种罕见的常染色体隐性遗传疾病,由位于染色体12q13上的AAAS基因突变引起。AAAS基因编码ALADIN蛋白(alacrima,贲门失弛缓症,肾上腺功能不全,神经系统疾病)。AS可以表现出过多的症状。由于其稀有性和渐进性,对该综合征的早期识别仍然具有挑战性。本报告介绍了一例罕见的三A综合征(TAS)并发神经肌肉表现。了解该综合征的非典型表现对于早期诊断和适当治疗至关重要。
■我们报告了一个16岁严重营养不良的男孩,出现吞咽困难,疲劳,和双侧先天性上睑下垂。钡燕子,上消化道内镜,进行了微光测试,这导致了TAS的诊断。治疗包括腹腔镜海勒手术,人工泪液,氢化可的松.
■TAS,也被称为AS,是一种罕见的以门失弛缓症为特征的多系统疾病,艾迪生的病,和变形虫。由于包含自主神经功能障碍,该综合征有时被称为4A综合征。没有AS的治疗方法。管理包括假牙的人工泪液,糖皮质激素替代疗法治疗肾上腺功能不全,和贲门失弛缓症的治疗。
■此案例强调了考虑TAS非典型表现的重要性。早期诊断和治疗对于解决这种罕见疾病的各种成分至关重要。了解该综合征的临床复杂性有助于改善患者护理,并强调了在类似病例中进行全面评估和管理的必要性。
UNASSIGNED: Allgrove syndrome (AS) (AAA syndrome) is a rare autosomal recessive disease caused by mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes for the ALADIN protein (
alacrima, achalasia, adrenal insufficiency, neurologic disorder). AS can manifest with a plethora of symptoms. Early recognition of the syndrome remains challenging due to its rarity and progressive nature. This report presents an unusual case of triple-A syndrome (TAS) with concurrent neuromuscular manifestations. Understanding the atypical presentation of this syndrome is vital for early diagnosis and appropriate management.
UNASSIGNED: We report a 16-year-old boy with severe malnutrition presented with painful swallowing, fatigue, and bilateral congenital ptosis. Barium swallow, upper gastrointestinal endoscopy, and Shimmer test were performed, which led to the diagnosis of TAS. Treatment included laparoscopic Heller\'s procedure, artificial tears, hydrocortisone.
UNASSIGNED: TAS, also known as AS, is a rare multisystem disorder characterized by achalasia, Addison\'s disease, and
alacrima. This syndrome is occasionally referred to as 4A syndrome due to the inclusion of autonomic dysfunction. There is no treatment for AS. Management includes artificial tears for
alacrima, glucocorticoid replacement therapy to treat adrenal insufficiency, and treatment of achalasia.
UNASSIGNED: This case emphasizes the importance of considering atypical presentations of TAS. Early diagnosis and treatment are paramount in addressing the varied components of this rare disorder. Understanding the clinical complexities of this syndrome aids in improved patient care and underscores the necessity for comprehensive evaluation and management in similar cases.