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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

Journal of Pediatric Hematology/Oncology: March 2012 - Volume 34 - Issue 2 - p 140–142
doi: 10.1097/MPH.0b013e31822817bb
Clinical and Laboratory Observations

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.

*Department of Pediatrics, University of South Alabama College of Medicine, Mobile, AL

Department of Pediatrics, Hurley Medical Center, Flint

§Carman and Ann Adams Department of Pediatrics, Division of Hematology/Oncology, Children’s Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI

Comprehensive Cancer Center, The Ohio State University, Columbus, OH

None of the authors have any financial disclosures or conflicts of interest besides as follows. Stephan M. Tanner, Cameron M. Beech, and Nidhi P. Shah are supported by NCI grant CA16058

Reprints: Abdul Hafeez Siddiqui, MD, Division of Hematology/Oncology, University of South Alabama College of Medicine, Mobile, AL (e-mail:

Received January 9, 2011

Accepted June 7, 2011

Copyright © 2012 Wolters Kluwer Health, Inc. All rights reserved.