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两例患有眼部表现的三 A 综合征同胞患者

Triple A syndrome with ophthalmic manifestations in two siblings.

作者信息

Babu Kalpana, Murthy Krishna R, Babu Narendra, Ramesh S

机构信息

Vittala International Institute of Ophthalmology, Bangalore, India.

出版信息

Indian J Ophthalmol. 2007 Jul-Aug;55(4):304-6. doi: 10.4103/0301-4738.33048.

Abstract

Triple A syndrome (Allgrove syndrome) is a rare, autosomal recessive disorder characterized by adrenocorticotropic hormone resistant adrenal insufficiency, alacrima, achalasia of the esophageal cardia, progressive neurological degeneration and occasionally autonomic instability. We report the ophthalmic manifestations in 2 siblings from a consanguineous family with this syndrome. A routine ophthalmic examination showed absence of palpebral portion of lacrimal gland, dry eyes and sluggish pupillary reflexes in both eyes of these patients. Both of these patients had achalasia cardia while the boy additionally had increased serum cortisol levels. Topical ocular lubricants were prescribed for both of them and Heller's cardiomyotomy with fundus plication was done for achalasia. These cases would create an awareness of this rare condition in ophthalmology in addition to suggesting its management.

摘要

三 A 综合征(奥尔格罗夫综合征)是一种罕见的常染色体隐性疾病,其特征为促肾上腺皮质激素抵抗性肾上腺功能不全、无泪、食管贲门失弛缓症、进行性神经退行性变,偶尔伴有自主神经不稳定。我们报告了来自一个近亲家庭的 2 名患有该综合征的兄弟姐妹的眼部表现。常规眼科检查显示,这些患者双眼泪腺睑部缺失、干眼且瞳孔反射迟钝。这两名患者均患有贲门失弛缓症,而男孩的血清皮质醇水平还升高。为他们两人都开了局部眼部润滑剂,并对贲门失弛缓症进行了海勒贲门肌切开术及胃底折叠术。这些病例除了提示其治疗方法外,还将提高眼科对这种罕见疾病的认识。

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