The Korean Journal of Internal Medicine

Case Report: Korean J Med. 2014;87(2):209-214. Published online August 1, 2014.
DOI: https://doi.org/10.3904/kjm.2014.87.2.209; 양측성 비폐쇄성 수신증 및 중추성 요붕증을 유발한 중격-시신경 형성장애 1예; 김종현, 이광복, 이정훈, 남수민, 이강우, 황유진, 길건; ¹대전선병원 내과
²대전선병원 비뇨기과; A Case of Septo-Optic Dysplasia Resulting in Central Diabetes Insipidus and Nonobstructive Bilateral Hydronephrosis; Jong Hyun Kim, Kwang Bok Lee, Jeonghun Lee, Soo Min Nam, Kang-Woo Lee, Eu Gene Hwang, Geon Gil; ¹Departments of Internal Medicine, Daejeon Sun Medical Center, Daejeon, Korea
²Departments of Urology, Daejeon Sun Medical Center, Daejeon, Korea; Corresponding author: Soo Min Nam ,Tel: +82-42-220-8577, Fax: +82-42-252-5505, Email: sum1092@naver.com; Received: November 27, 2013; Revised: February 11, 2014 Accepted: February 24, 2015.

Abstract: A 27-year-old male with nonobstructive hydronephrosis was referred from the urology department for polyuria evaluation and management. The patient was hospitalized for urinary tract infection and cystostomy was performed due to neurogenic bladder of unknown origin. The patient was of short stature and had visual impairment. From the interview, we discovered he had been suffering from polyuria and polydipsia for more than 20 years. Urine output was 13 L/day and urine osmolarity was 85 mOsm/kg. The results of a water deprivation test were consistent with central diabetes insipidus. Septo-optic dysplasia (SOD) was observed on brain magnetic resonance imaging (MRI). SOD is a very rare condition characterized by agenesis of the septum pellucidum or corpus callosum, which may cause optic nerve aplasia or hypoplasia, midbrain abnormalities and/or hypopituitarism. After desmopressin treatment, polyuria and hydronephrosis were improved. We report a case of a 27-year-old male diagnosed with SOD including diabetes insipidus, resulting in nonobstructive hydronephrosis.

Keywords :Septo-optic dysplasia, Central diabetes insipidus, Hydronephrosis