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Neutropenia and Increased Mean Corpuscular Volume (MCV) With Abnormal Neurologic Findings

A Case of Cobalamin D Deficiency

Soylu Ustkoyuncu, Pembe, MD*; Kendirci, Mustafa, MD*; Kardas, Fatih, MD*; Gokay, Songul, MD*; Per, Huseyin, MD; Kacar Bayram, Ayse, MD

Journal of Pediatric Hematology/Oncology: January 2019 - Volume 41 - Issue 1 - p e54–e56
doi: 10.1097/MPH.0000000000001120
Online Articles: Clinical and Laboratory Observations

Background: Disorders of intracellular cobalamin (Cbl) metabolism are classified from A to J according to biochemical phenotype, and genetic and complementation analyses. CblD-deficient patients present with developmental, hematologic, neurologic, and metabolic findings.

Clinical Observation: An 11-year-old boy presented with neutropenia, increased mean corpuscular volume, psychomotor retardation, and seizures. His plasma total homocysteine and urinary methylmalonic acid levels were elevated, and a homozygous nonsense mutation [p. R250X (c.748C>T] leading to premature termination of translation was identified in the MMADHC gene, which was compatible with CblD defect.

Conclusion: In the presence of increased mean corpuscular volume and other hematologic manifestations, such as leukopenia, thrombocytopenia, and megaloblastic anemia, with severe nonspecific or mild neurologic symptoms, Cbl synthesis defects should be considered.

*Department of Pediatrics, Division of Pediatric Nutrition and Metabolism

Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey

Our case report did not require Ethics Committee Approval, but written consent was obtained from his parents.

The authors declare no conflict of interest.

Reprints: Pembe Soylu Ustkoyuncu, MD, Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Faculty of Medicine, Erciyes University, Melikgazi, Kayseri 38039, Turkey (e-mail:

Received July 14, 2017

Accepted October 24, 2017

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