Infantile cobalamin deficiency with cerebral lactate accumulation and sustained choline depletion.
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.
Children's Hospital, University Hospital Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. horstman@uke.uni-hamburg.de
M
M
Horstmann
E
E
Neumaier-Probst
Z
Z
Lukacs
R
R
Steinfeld
K
K
Ullrich
A
A
Kohlschütter
D001927:Brain Diseases / Q000209:etiology / Q000378:metabolism* / Q000473:pathology*; D002796:Choline Deficiency / Q000150:complications / Q000175:diagnosis / Q000378:metabolism*; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000378:metabolism*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000209:etiology; D018908:Muscle Weakness / Q000175:diagnosis / Q000209:etiology; D009186:Myelin Sheath / Q000473:pathology; D014806:Vitamin B 12 Deficiency / Q000175:diagnosis / Q000378:metabolism*
D019344:Lactic Acid