Jerie Martin, Vojtech Zdenek, Malikova Hana, Prochazkova Sylva, Vackova Zuzana, Rolfs Arndt
Department of Neurology, Hospital Na Homolce, Prague, Czech Republic.
Department of Radiology, Na Homolce Hospital, Prague, Czech Republic.
Neuro Endocrinol Lett. 2016 Jul;37(3):184-188.
We report a young woman with the clinical picture of Allgrove syndrome in whom neurological symptoms are prominent. It usually presents in the first decade of life with a deficiency of tears, recurrent vomiting and dysphagia due to achalasia, severe hypoglycemic seizures and shock due to adrenal insufficiency. Neurological symptoms such as hyperreflexia, dysarthria, hypernasal speech, ataxia, sensory impairment, muscle weakness, and mental retardation are extremely slow to develop and manifest at a later age. Diagnosis was based on clinical presentation and laboratory findings. She is the first patient from the Czech Republic with genetic confirmation of Allgrove syndrome. This patient is one of about 100 cases described in the literature and one of the few patients with all the main typical clinical features.
我们报告了一名患有Allgrove综合征临床表现的年轻女性，其神经系统症状较为突出。该综合征通常在生命的第一个十年出现，表现为泪液缺乏、因贲门失弛缓症导致的反复呕吐和吞咽困难、因肾上腺功能不全引起的严重低血糖性惊厥和休克。诸如反射亢进、构音障碍、鼻音过重、共济失调、感觉障碍、肌肉无力和智力迟钝等神经系统症状发展极为缓慢，在较晚年龄才会显现。诊断基于临床表现和实验室检查结果。她是来自捷克共和国首例经基因确诊的Allgrove综合征患者。该患者是文献中描述的约100例病例之一，也是少数具有所有主要典型临床特征的患者之一。
