Homocystinuria masquerading as vitamin B12 deficiency

Authors

  • M Wadhwani Dr RP Center for Ophthalmic Science, AIIMS, New Delhi
  • S Beri Dr RP Center for Ophthalmic Science, AIIMS, New Delhi
  • A Saili Dr RP Center for Ophthalmic Science, AIIMS, New Delhi
  • S Garg Dr RP Center for Ophthalmic Science, AIIMS, New Delhi

DOI:

https://doi.org/10.3126/nepjoph.v4i2.6554

Keywords:

Homocystinuria, vitamin B12 deficiency, lens subluxation, mental retardation

Abstract

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.

DOI: http://dx.doi.org/10.3126/nepjoph.v4i2.6554

Nepal J Ophthalmol 2012; 4 (8): 326-328

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Published

2012-07-26

How to Cite

Wadhwani, M., Beri, S., Saili, A., & Garg, S. (2012). Homocystinuria masquerading as vitamin B12 deficiency. Nepalese Journal of Ophthalmology, 4(2), 326–328. https://doi.org/10.3126/nepjoph.v4i2.6554

Issue

Vol. 4 No. 2 (2012)

Section

Case Reports

License

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