Global Advanced Research Journal of Medicine and Medical Sciences (GARJMMS) ISSN: 2315-5159
October 2014 Vol. 3(10), pp. 275-280
Copyright © 2014 Global Advanced Research Journals

Case Report

A Rare Case of Classic Homocystinuria with Hyperpigmentation

Haydar A. Abdelrazig¹*, Dina  A.  Hassan², Suad Y. Alkarib³ and Mohamed A. Mahgoub⁴

¹Cosultant Paediatrician, MD, Department of Paediatrics, Omdurman Military Hospital, Khartoum, Sudan.
²Consultant Biochemist, PhD, Department of Biochemistry Faculty of Medicine, Karary University, Khartoum, Sudan.
³Consultant Pharmacist, PhD, Dean of Faculty of Pharmacy, Karary University, Khartoum, Sudan.
⁴Consultant Haematologist, MD, Department of Haematology, Central Laboratory, Omdurman Military Hospital, Khartoum, Sudan.

*Corresponding Author E-mail:  habdelhakam1@hotmail.com; Phone: 00249-123431031; Fax:  00249-186551513  

Accepted 20 October, 2014

Abstract

An eleven years old girl was admitted to paediatric ward, at Omdurman Military Hospital, Khartoum, Sudan, with generalized skin hyperpigmentation, mental retardation and ectopia lentis. She was diagnosed as a case of classic homocystinuria  (type I) with megaloblastic anaemia. Vitamin B12 and folicacid levels should be monitored  periodically,  in patients with classic homocystinuria.

Keywords: Homocystinuria, Hyperpigmentation, Megaloblastic anemia, Vitamin B₁₂, Folic acid.