A case of homocystinuria presenting with unilateral cataract, systemic hypertension and purpura fulminans

Abstract

Homosistinüri klininiğinde iskelet, beyin, göz ve vasküler sistem tutulumu görülebilir. Biz ateş, el ve ayaklarda ödem, ellerde morarma şikayetleri getirilen ve takiplerde homosistinüri tanısı alan 7 yaşında erkek olgu sunduk. Bu vaka dolayısı ile katarakt, sistemik hipertansiyon ve purpura fulminanslı hastalarda homosistinürinin düşünülmesi gerektiğini vurgulamak isteriz.

In homocystinuria, clinical involvement may include the skeleton, brain, orbita, and vascular system. We report a 7-year-old male who initially presented with fever, edema on feet and legs, and bruising on the hands, and was followed-up with the diagnosis of homocystinuria. On account of the case we would like to emphasize homocystinuria should be considered in cases of cataract, systemic hypertension and purpura fulminans.