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

doi:10.1097/MPH.0b013e31822817bb

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 journal › Article › peer-review

4 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 language	English
Pages (from-to)	140-142
Number of pages	3
Journal	Journal of Pediatric Hematology/Oncology
Volume	34
Issue number	2
DOIs	https://doi.org/10.1097/MPH.0b013e31822817bb
State	Published - Mar 2012

Keywords

anemia
cobalamin
hypersegmented neutrophils
neuropathy

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10.1097/MPH.0b013e31822817bb

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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.",

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AU - Siddiqui, Abdul Hafeez

AU - Ansari, Aamir

AU - Beech, Cameron M.

AU - Shah, Nidhi P.

AU - Tanner, Stephan M.

AU - Sarnaik, Sharada A.

PY - 2012/3

Y1 - 2012/3

N2 - 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.

AB - 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.

KW - anemia

KW - cobalamin

KW - hypersegmented neutrophils

KW - neuropathy

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U2 - 10.1097/MPH.0b013e31822817bb

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JF - Journal of Pediatric Hematology/Oncology

IS - 2

ER -

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

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Keywords

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