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Homocystinuria masquerading as vitamin B12 deficiency
1Dr RP Center for Ophthalmic Science, AIIMS, New Delhi, India.
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.
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