A case of young adult presenting with cerebral infarction caused by homocystinuria

Kei Suzuki, Kensuke Murakami, Takahiro Tomita, Yasuhiro Suzuki, Noboru Takahashi, Kozo Kurahashi, Toshihiro Ohura, Michiharu Nishijima

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


Homocystinuria is a congenital metabolic disorder, and has been known as life-threatening risk factor of vascular disease including ischemic stroke. We report a case of cerebral infarction due to homocystinuria. The patient was a 21-year-old woman exhibiting left hemiparesis and a previous history of ectopia lentis. Magnetic resonance imaging showed multiple fresh infarctions in the right frontal and temporal lobes, basal ganglia, corona radiata, and internal capsule. The right common carotid angiogram demonstrated complete occlusion at the origin of the right internal carotid artery. Further investigation clarified increased level of serum methionine and homocysteine and urinary homocystin due to cystathionine beta-synthase deficiency. Homocystinuria was diagnosed as the cause of cerebral infarction. The patient was treated by low methionine diet and administration of folic acid, cobalamin, and aspirin. It should be recognized that some patients with homocystinuria are missed in the neonatal screening for congenital metabolic disorders. Recent studies indicated that the homocysteinemia is one of risk factors of ischemic stroke in the general population as well as in the patients of homocystinuria. We recommend metabolic screening for homocystinuria, when treating a juvenile patient with ischemic stroke of unknown etiology.

Original languageEnglish
Pages (from-to)781-784
Number of pages4
JournalBrain and Nerve
Issue number9
Publication statusPublished - 2004 Sep
Externally publishedYes


  • Homocystinuria
  • Hyperhomocysteinemia
  • Juvenile cerebral infarction
  • Newborn-screening

ASJC Scopus subject areas

  • Neuroscience(all)


Dive into the research topics of 'A case of young adult presenting with cerebral infarction caused by homocystinuria'. Together they form a unique fingerprint.

Cite this