Juvenile cobalamin deficiency in a 17-year-old child with autonomic dysfunction and skin changes

Abdul Hafeez Siddiqui, Aamir Ansari, Cameron M. Beech, Nidhi P. Shah, Stephan M. Tanner, Sharada A. Sarnaik

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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.

Original languageEnglish
Pages (from-to)140-142
Number of pages3
JournalJournal of Pediatric Hematology/Oncology
Volume34
Issue number2
DOIs
StatePublished - Mar 2012

Keywords

  • anemia
  • cobalamin
  • hypersegmented neutrophils
  • neuropathy

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