The Korean Journal of Medicine

  • 제87권2호
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  • Pages.209-214
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  • 2014
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  • 1738-9364(pISSN)
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  • 2289-0769(eISSN)
대한내과학회 (The Korean Association of Internal Medicine)
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양측성 비폐쇄성 수신증 및 중추성 요붕증을 유발한 중격-시신경 형성장애 1예

A Case of Septo-Optic Dysplasia Resulting in Central Diabetes Insipidus and Nonobstructive Bilateral Hydronephrosis

  • Kim, Jong Hyun (Department of Internal Medicine, Daejeon Sun Medical Center) ;
  • Lee, Kwang Bok (Department of Internal Medicine, Daejeon Sun Medical Center) ;
  • Lee, Jeonghun (Department of Internal Medicine, Daejeon Sun Medical Center) ;
  • Nam, Soo Min (Department of Internal Medicine, Daejeon Sun Medical Center) ;
  • Lee, Kang-Woo (Department of Internal Medicine, Daejeon Sun Medical Center) ;
  • Hwang, Eu Gene (Department of Urology, Daejeon Sun Medical Center) ;
  • Gil, Geon (Department of Urology, Daejeon Sun Medical Center)
  • 투고 : 2013.11.27
  • 심사 : 2014.02.24
  • 발행 : 2014.08.01
⟨ 이전 논문 다음 논문 ⟩

초록

저자 등은 양측성 비폐쇄성 수신증으로 방광창냄술을 시행했던 27세 남자 환자에서 중추성 요붕증 및 중격-시신경 형성 장애를 진단하였다. 어려서부터 시야 장애 및 다뇨 등의 증상은 있었으나 적절한 검사와 진단이 이루지지 않아 치료가 늦어지고 양측성 비폐쇄성 수신증까지 나타난 경우이다. 요붕증에 대하여 데스모프레신으로 치료 후 환자의 다음, 다뇨 증상과 양측 비폐쇄성 수신증도 호전이 되어 방광창냄술 제거 후 정상적인 배뇨가 가능한 상태이며 현재 외래 추적경과 중이다.

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.

키워드

참고문헌

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