Journal List > J Korean Endocr Soc > v.22(5) > 1003385

Kim, Jung, Hahm, Lee, Moon, Lee, and Chung: A Case of Central Diabetes Insipitus Combined with Septo-Optic Dysplasia and Schizencephaly in 31-year-old Woman

Abstract

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.

Figures and Tables

Fig. 1
Brain MRI showed schizencephaly (A) and absence of septum pellucidum (B and C). Arrows in picture A indicate closed lip type of schizocephalic clefts of lateral parietal regions in horizontal view, and arrows in picture B and C indicate absence of septum pellucidum in coronal view (B) and in sagittal view (C).
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Fig. 2
Ophthalmologic examinations of the patient. (A) Optical coherence tomography showed partial optic nerve atrophy. Arrow indicates abnormal thin thickness of red-free retinal nerve fiber layer at nasal area. (B) Disc photography showed peri-papillary degeneration (arrows). C/D (Cup/Disc) ratio is 0.5 and it suggests optic nerve atrophy. (C) Visual field analysis showed right nasal side arcuate scotoma (black arrows) and left superior arcuate scotoma (white arrows) and this finding was compatible with optic nerve atrophy.
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Table 1
Serial flow chart of water deprivation test
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