M Wadhwani1, S Beri, A Saili, S Garg.
Abstract
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. © NEPjOPH.
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. © NEPjOPH.
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Year: 2012
PMID： 22864044 DOI： 10.3126/nepjoph.v4i2.6554
Source DB: PubMed Journal: Nepal J Ophthalmol ISSN： 2072-6805