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KMID : 0911820200210020064
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Korean Journal of Headache
2020 Volume.21 No. 2 p.64 ~ p.68
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Homocystinuria in an Adulthood Presenting as Intracranial Thrombosis
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Song Joo-Yeon
Kim Eui-Hyun
Kwak In-Hee
Lee Byung-Chul
Oh Mi-Sun
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Abstract
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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.
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KEYWORD
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Homocystinuria, Legg-Calve-Perthes disease, Intracranial thrombosis
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