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5A Syndrome

机译：5A综合征

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A 13-year-old boy presented with a long history of swallowing difficulty, regurgitation, and reflux with vomiting. He had undergone multiple surgeries for reflux and achalasia. He had history of alacrimia from early childhood. There was a history of recurrent syncopal episodes. He had severe wasting, and was undernourished with diffuse hyperpigmentation. On examination, he had postural hypotension, microcephaly, long philtrum with thin upper lip and atrophic tongue (Figure 1). Neurological examination revealed optic atrophy, absent gag, brisk jaw jerk, spastic tongue, and limb muscular amyotrophy with pyramidal signs. His serum cortisol level was low and serum thyroid stimulating hormone was normal. Brain magnetic resonance imaging (MRI) revealed pituitary hypoplasia. Nerve conduction study (NCS) revealed bilateral sensorimotor axonal neuropathy. He was started on cortisol replacement therapy.
机译：一名13岁的男孩介绍了吞咽困难，反流和呕吐的潮流历史悠久。他经历了多种对反流和贲门划分的手术。他有幼儿时期的阿拉卡里亚历史。有经常性同步发作的历史。他严重浪费，并弥漫性超差异不佳。在考试中，他患有姿势低血压，微透术，长厚度唇唇和萎缩舌（图1）。神经学检查显示光学萎缩，缺乏堵嘴，轻快的钳口猛击，痉挛性舌和肢体肌肉肌直播与金字塔迹象。他的血清皮质醇水平低，血清甲状腺刺激激素是正常的。脑磁共振成像（MRI）揭示了垂体发育不全。神经传导研究（NCS）揭示了双侧传感器轴突神经病变。他开始在皮质醇替代疗法上。

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