Skip Navigation LinksHome > March 2012 - Volume 34 - Issue 2 > Juvenile Cobalamin Deficiency in a 17-Year-Old Child With Au...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e31822817bb
Clinical and Laboratory Observations

Juvenile Cobalamin Deficiency in a 17-Year-Old Child With Autonomic Dysfunction and Skin Changes

Siddiqui, Abdul Hafeez MD*; Ansari, Aamir MD; Beech, Cameron M. BSc; Shah, Nidhi P. BSc; Tanner, Stephan M. PhD; Sarnaik, Sharada A. MD§

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Abstract

We report a rare case of juvenile cobalamin deficiency who presented at the age of 17 years. He was underweight and had skin changes, normocytic anemia, and autonomic dysfunction, which led to adynamic ileus and acute postrenal failure. The expected macrocytosis was masked by an underlying alpha-thalassemia trait. The patient had an excellent response to parenteral cobalamin treatment.

© 2012 Lippincott Williams & Wilkins, Inc.

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