A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report

Abstract

IntroductionHomocystinuria 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, including Moyamoya disease. Here, we report the case of a 10-year-old male patient with a diagnosis of Moyamoya disease who had 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 PresentationA 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, his blood 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 arteries were determined to be occluded. It was considered that his eye findings could be compatible with a metabolic disease. On metabolic screening, 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 included vitamins B12 and B6. With these treatments, the patient’s complications regressed.ConclusionsIn cases of unusual vascular lesions, metabolic diseases must be considered. In homocystinuria, early diagnosis and treatment are important. Blood homocysteine levels can be returned to normal, and some complications can be prevented.

Arterial Ischemic Stroke—Peculiarities of Clinical Presentation and Risk Factors in Indian Children

“…In one adolescent girl, who presented with vertical gaze palsy from small thalamic stroke in the distribution of Artery of Percheron, homocysteinemia was the only RF identified. Homocysteinemia has been described as an uncommon RF for stroke in children in general, 3,12,14,33 and in moyamoya disease 34,35 and cervical artery dissection 27,36,37 in particular. Homocysteinemia in these studies resulted from mutations in MFHTR gene.…”

Hyperhomocysteinemia independently associated with adult moyamoya disease: hospital based study of 237 patients

“…Our hypothesis is supported by the presence of peripheral atherosclerotic disease, ischaemic heart disease, the relevant risk factors for atherosclerosis and the absence of other predisposing conditions of MMD in the patient samples in our study. On the other hand, one case report of homocystinuria with moyamoya was also described (9), and the possible role of the enzyme activity of methylenetetrahydrofolate reductase (MTFHR), which is associated with hyperhomocysteinemia, in MMD was discussed in the literature (24). A recent study indicated an association between two novel single-nucleotide polymorphisms in the gene regulating homocysteine metabolism (rs9651118 in MTHFR and rs117353193 in TCN2), resulting in increased homocysteine levels in patients with MMD (7,8).…”

Hyperhomocysteinemia in a Patient with Moyamoya Disease

“…There have been reports of moyamoya disease with protein c and protein s deficiency [ 3 , 4 ]. One case report of homocystinuria with moyamoya was also described in the literature [ 5 ]. In our case, there was no clinical feature suggestive of homocystinuria.…”