Endocrinol Metab > Volume 22(5); 2007 > Article
Journal of Korean Endocrine Society 2007;22(5):339-343.
DOI: https://doi.org/10.3803/jkes.2007.22.5.339    Published online October 1, 2007.
A Case of Central Diabetes Insipitus Combined with Septo-Optic Dysplasia and Schizencephaly in 31-year-old Woman.
Soo Kyoung Kim, Tae Sik Jung, Jong Ryeal Hahm, Sang Min Lee, Sung Won Moon, Kyeong Ju Lee, Soon Il Chung
1Department of Internal Medicine, Gyeongsang National University School of Medicine.
2Institute of Health Sciences, Gyeongsang National University School of Medicine.
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.
Key Words: Diabetes Insipidus, Epilepsy, Septo-optic dysplasia

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