Format

Send to

Choose Destination
Nepal J Ophthalmol. 2012 Jul-Dec;4(2):326-8. doi: http://dx.doi.org/10.3126/nepjoph.v4i2.6554.

Homocystinuria masquerading as vitamin B12 deficiency.

Author information

1
Dr RP Center for Ophthalmic Science, AIIMS, New Delhi, India.

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.

[Indexed for MEDLINE]

Supplemental Content

Loading ...
Support Center