Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH · 2012
Homocystinuria masquerading as vitamin B12 deficiency.
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Wadhwani M, Beri S, Saili A, Garg S
Аннотация
BACKGROUND: Homocystinuria is a rare metabolic disorder characterized by excess homocysteine in the urine. Vitamin B12 deficiency has diverse cutaneous, nervous and ophthalmic manifestations.
OBJECTIVE: To report a case of homocystinuria masquerading as vitamin B 12 deficiency.
CASE: We hereby are presenting an interesting case of a 4 year old boy who was being treated for Vitamin B 12 deficiency on the basis of history of delayed milestone, abdominal pain and hyperpigmentation of skin which was diagnosed as homocystinuria.
CONCLUSION: It is important to carry out ophthalmological examination in every case of megaloblastic anemia if associated with blurring of vision and mental retardation.
OBJECTIVE: To report a case of homocystinuria masquerading as vitamin B 12 deficiency.
CASE: We hereby are presenting an interesting case of a 4 year old boy who was being treated for Vitamin B 12 deficiency on the basis of history of delayed milestone, abdominal pain and hyperpigmentation of skin which was diagnosed as homocystinuria.
CONCLUSION: It is important to carry out ophthalmological examination in every case of megaloblastic anemia if associated with blurring of vision and mental retardation.