INTRODUCTION 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, 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 di...

Three patients with homocystinuria due to cystathionine beta-synthase deficiency who developed progressive generalised dystonia are described. Although cerebrovascular thrombosis is usually thought to be responsible for neurological dysfunction in homocystinuric patients, neuropathological studies in one case and clinical and radiological evidence in the other two suggested that dystonia was no...

INTRODUCTION Non-heritable factors may have an influence on the clinical expression of monogenic inherited metabolic diseases. CASE PRESENTATION This is a case report of a man whose mother had been diagnosed late in childhood with pyridoxine responsive homocystinuria with lens dislocation and neurodevelopmental delay. These severe complications were not observed in her son who was pyridoxine ...

Homocystinuria due to cystathionine-beta-synthetase deficiency is an autosomal recessive disorder of methionine metabolism with an incidence in Ireland of 1 in 52,544 births. Ocular complications in untreated patients include ectopia lentis, secondary glaucoma, optic atrophy, and retinal detachment. There are no characteristic signs or symptoms in infancy, and early detection relies on screenin...

how to cite this article: karimzadeh p, jafari n, alai mr, jabbehdari s, ahmad abadi f, nejadbiglari h. homocystinuria: diagnosis and neuroimaging findings - of iranian pediatric patients. iran j child neurol. 2015 winter;9(1):94-98. abstract objective homocystinuria is a neurometabolic diseases characterized by symptoms include neurodevelopmental delay, lens dislocation, long limbs and thrombo...