KMID : 0356620070220050339
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Journal of Korean Society of Endocrinology 2007 Volume.22 No. 5 p.339 ~ p.343
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A Case of Central Diabetes Insipitus Combined with Septo-Optic Dysplasia and Schizencephaly in 31-year-old Woman
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Kim Soo-Kyoung
Jung Tae-Sik Hahm Jong-Ryeal Lee Sang-Min Moon Sung-Won Lee Kyeong-Ju Chung Soon-Il
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Abstract
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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.
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KEYWORD
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Diabetes Insipidus, Epilepsy, Septo-optic dysplasia
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