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

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

Homocystinuria masquerading as vitamin B12 deficiency. (2012). 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

This license enables reusers to copy and distribute the material in any medium or format in unadapted form only, for noncommercial purposes only, and only so long as attribution is given to the creator.

How to Cite

Homocystinuria masquerading as vitamin B12 deficiency. (2012). Nepalese Journal of Ophthalmology, 4(2), 326-328. https://doi.org/10.3126/nepjoph.v4i2.6554