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.