Simultaneous occurrence of selective ACTH insensitivity, achalasia and alacrimia accompanied by hyperlipoproteinaemia.

Acta paediatrica Hungarica Pub Date : 1992-01-01
A Várkonyi, J Julesz, P Szüts, I Tóth, I Faredin
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Abstract

An extremely rare clinical syndrome on a 7-year-old-girl is presented. Besides isolated glucocorticoid insufficiency, achalasia and alacrima disturbance of the lipid metabolism was also detected--being a special feature of this case. The details of the endocrine workup is discussed, providing clues for the possible pathomechanism. The correct diagnosis and specific therapy is of utmost importance in the everyday life of the patient.

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同时发生选择性ACTH不敏感、失弛缓症和血氧症伴高脂血症。
本文报告一名七岁女童的罕见临床症候群。除了孤立的糖皮质激素不足外,还发现了脂质代谢的失弛缓症和先天性紊乱,这是本病例的特殊特征。讨论了内分泌检查的细节,为可能的病理机制提供线索。正确的诊断和针对性的治疗对患者的日常生活至关重要。
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