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.
Horstmann
M
M
Children's Hospital, University Hospital Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. horstman@uke.uni-hamburg.de
Neumaier-Probst
E
E
Lukacs
Z
Z
Steinfeld
R
R
Ullrich
K
K
Kohlschütter
A
A
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