Neuropediatrics 2003; 34(5): 261-264
DOI: 10.1055/s-2003-43256
Short Communication

Georg Thieme Verlag Stuttgart · New York

Infantile Cobalamin Deficiency with Cerebral Lactate Accumulation and Sustained Choline Depletion

M. Horstmann 1 , E. Neumaier-Probst 2 , Z. Lukacs 1 , R. Steinfeld 1 , K. Ullrich 1 , A. Kohlschütter 1
  • 1Children's Hospital, University Hospital, Hamburg-Eppendorf, Hamburg, Germany
  • 2Department of Neuroradiology, University Hospital, Hamburg-Eppendorf, Hamburg, Germany
Further Information

Publication History

Received: January 16, 2003

Accepted after Revision: June 3, 2003

Publication Date:
04 November 2003 (online)

Abstract

A remarkable, intermittent sudden-onset vigilance and movement disorder in an exclusively breast-fed infant is reported, which was caused by cobalamin depletion due to maternal vitamin B12 malabsorption. The lack of cobalamin caused a severe encephalopathy in the infant, whose brain displayed a striking loss of volume and a delay of myelination. Proton magnetic resonance spectroscopy revealed an accumulation of lactate in the gray and white matter of the brain and a sustained depletion of choline-containing compounds in the white matter, reflecting a reversible disturbance of oxidative energy metabolism in brain cells and a long-lasting hypomyelination disorder. The clinical picture in conjunction with MRI and spectroscopic data of this case study yields more insight into the functions of cobalamin in the cerebral metabolism.

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M. D. Martin Horstmann

Children's Hospital, University Hospital Hamburg-Eppendorf

Martinistraße 52

20246 Hamburg

Germany

Email: horstman@uke.uni-hamburg.de