Homocystinuria masquerading as vitamin B12 deficiency
DOI:
https://doi.org/10.3126/nepjoph.v4i2.6554Keywords:
Homocystinuria, vitamin B12 deficiency, lens subluxation, mental retardationAbstract
Background: Homocystinuria is a rare metabolic disorder charcterised 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.
Nepal J Ophthalmol 2012; 4 (8): 326-328Downloads
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