A CASE OF HOMOCYSTINURIA PRESENTING WITH SIXTH NERVE PALSY

Aliena Badshah, Mohammad Humayun, Iqbal Haider

Department of Medicine, Khyber Teaching Hospital, Peshawar - Pakistan

Abstract

A 12-year-old boy presented to Medical Department with aphasia since birth and left lateral rectus palsy for five
years. His MRI brain revealed bilateral frontal and lacunar infarcts. A coagulation screen was carried out which showed
raised homocysteine levels in the blood. Subsequent urinary homocysteine levels were also raised. He was diagnosed
as a case of homocystinuria. He was started on folic acid and vitamin B6 therapy and called for follow up after 4 weeks.

Keywords: Aphasia; Palsy; Infarcts; Homocysteine; Homocystinuria.

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