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저자 등은 간질 조절을 주소로 내원한 31세 여자 환자에서 중격-시신경 형성장애, 분열뇌증과 중추성 요붕증을 진단하였다. 중격-시신경 형성 장애와 분열뇌증은 선천적인 기형이고, 간질은 성인이 되어서 발병하였다. 중격-시신경 형성장애는 시신경의 형성 부전이 있었으나 안과이상 증상이 없어서 진단이 늦어졌다. 중추성 요붕증은 수분제한 검사로 확진하였고, 약 20년 전부터 증상이 있었으나 적절한 검사를 받지 못해 진단이 늦어졌다. 현재 요붕증은 desmopressin acetate 사용하면서 외래 경과 관찰 중이다.


A 31-year-old woman was referred to our hospital for evaluation and management of poorly controlled epilepsy. The patient had been taking anti-epileptic drugs for six years. An MRI imaging study showed septo-optic dysplasia (SOD) and schizencephaly. SOD is a syndrome characterized by agenesis of the septum pellucidum or corpus callosum, optic nerve dysplasia and congenital hypothalamic-pituitary insufficiency. The patient was referred to the endocrine clinic for exclusion of any pituitary hormonal deficiencies. In a systemic review, the patient complained of polydipsia and polyuria for 20 years. In laboratory tests, measurements showed a serum osmolarity of 281 mOsm/kg, a serum sodium concentration of 144.7 mmol/L, a spot urine osmolarity of 183 mOsm/kg and a spot urine sodium concentration of 32 mmol/L. The patient underwent a water deprivation test, and was diagnosed with central diabetes insipidus. We report a case of central diabetes insipitus combined with SOD, schizencephaly and epilepsy. (J Kor Endocrine Soc 22:339~343, 2007)