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뇌정맥혈전증으로 발현된 성인 호모시스틴뇨증

Homocystinuria in an Adulthood Presenting as Intracranial Thrombosis

두통 2020년 21권 2호 p.64 ~ 68
송주연, 김의현, 곽인희, 이병철, 오미선,
소속 상세정보
송주연 ( Song Joo-Yeon ) - Hallym University College of Medicine Hallym University Sacred Heart Hospital Department of Neurology
김의현 ( Kim Eui-Hyun ) - Hallym University College of Medicine Hallym University Sacred Heart Hospital Department of Neurology
곽인희 ( Kwak In-Hee ) - Hallym University College of Medicine Hallym University Sacred Heart Hospital Department of Neurology
이병철 ( Lee Byung-Chul ) - Hallym University College of Medicine Hallym University Sacred Heart Hospital Department of Neurology
오미선 ( Oh Mi-Sun ) - Hallym University College of Medicine Hallym University Sacred Heart Hospital Department of Neurology

Abstract


Homocystinuria caused by mutations in cystathionine β-synthase (CBS) gene is most often diagnosed in childhood and has a variable expressivity, including ectopia lentis, myopia, neurodevelopmental delay, skeletal anomality and thromboembolic events. Few cases of cerebral venous sinus thrombosis (CVST) due to homocystinuria during adulthood have been reported. -Moreover, only one case of Legg-Calve-Perthes disease (LCPD) was presented as skeletal complication. A 23-year-old female was admitted because of sudden severe headache and blurred vision. Brain imaging revealed CVST. During the etiology evaluation, high level of homocysteine in plasma and urine were found. Whole exome sequencing was done, which showed that she had a novel missense mutation in the CBS gene. Further history taking disclosed she had medical history of clinically diagnosed as LCPD in childhood, and subsequent subluxation of lens, retinal detachment. Therefore, homocystinuria must be considered when evaluating causes of secondary headache, especially CVST, if it is accompanied by ophthalmologic and orthopedic problems.

키워드

Homocystinuria; Legg-Calve-Perthes disease; Intracranial thrombosis

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