فهرست نشریات علمی دسترسی آزاد ایران

Homocystinuria is a hereditary disease caused by a defect in the enzymes involved in metabolizing methionine.Homocystinuria can influence many systems and may be mistaken for other diseases, includingMoyamoya disease. Here, we reportthe case of a 10-year-old male patient with a diagnosis of Moyamoya diseasewhohad been monitored for that for an extended period.The patient’s diagnosis was changed to homocystinuria as a result of lens subluxation and cataract findings.Case Presentation: A 10-year-old male patient presented with vomiting, headache, lethargy, muscular weakness, and eye redness.The patient was mentally retarded, his right pupil was hyperemic, and he had muscle weakness on his left side. In addition, hisblood pressure was high. The patient’s history included a diagnosis of Moyamoya. A neck and cranial computed tomography (CT)angiography showed no flow bilaterally past the bifurcation of the carotid artery. The patient’s bilateral internal carotid arterieswere determined to be occluded. It was considered that his eye findings could be compatible with a metabolic disease. Onmetabolicscreening, the patient’s homocysteine level was very high. In addition, a heterozygous A1298C mutation was identified in MTHFR.Therefore, the patient was started on a diet free from homocysteine and methionine. In addition, his treatment regimen includedvitamins B12 and B6. With these treatments, the patient’s complications regressed.Conclusions: In cases of unusual vascular lesions, metabolic diseases must be considered. In homocystinuria, early diagnosis andtreatment are important. Blood homocysteine levels can be returned to normal, and some complications can be prevented.