MR imaging findings in children with merosin-deficient congenital muscular dystrophy.
OBJECTIVE
Our purpose was to determine the brain MR imaging characteristics of merosin-deficient congenital muscular dystrophy in children.


METHODS
We reviewed the MR imaging findings of the brain in three children with known merosin-deficient congenital muscular dystrophy to determine the presence of any cerebral or cerebellar abnormalities of development or abnormalities of the white matter.


RESULTS
In all three patients, there was normal formation of the cerebrum, the cerebellum, and no evidence of neuronal migration anomalies. All three patients had abnormal white matter in the cerebrum, with sparing of the corpus callosum, internal capsule, cerebellum, and brain stem.


CONCLUSIONS
MR imaging of the brain in children with merosin-deficient congenital muscular dystrophy reveals a consistent pattern of white matter abnormality. We postulate that disruption of the blood-brain barrier associated with merosin deficiency leads to increased water content, resulting in abnormal white matter signal intensity.
Caro
P A
PA
Division of Neuroimaging, Thomas Jefferson University Medical College, Philadelphia, USA.
Scavina
M
M
Hoffman
E
E
Pegoraro
E
E
Marks
H G
HG
D001921:Brain / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D007797:Laminin / Q000172:deficiency*; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism; D009136:Muscular Dystrophies / Q000151:congenital* / Q000378:metabolism / Q000473:pathology*
D007797:Laminin