Imaging studies in a unique familial dysmyelinating disorder.
We report the imaging findings in five patients with a unique dysmyelinating disorder. MR studies of these infants showed obstructive hydrocephalus caused by mass effect produced by an enlarged cerebellum. The white matter of an enlarged cerebrum and cerebellum showed delayed myelination. Proton spectroscopy showed normal N-acetylaspartate (NAA) levels. While the dysmyelinating disorder was clearly differentiated from Canavan disease by an absence of elevated NAA and differing histopathologic findings and autosomal-dominant inheritance pattern, there were similarities to this disease in the presentation and, to some extent, in the initial imaging findings.
Gripp
K W
KW
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA.
Zimmerman
R A
RA
Wang
Z J
ZJ
Rorke
L B
LB
Duhaime
A C
AC
Schut
L
L
Molloy
P T
PT
Tucker
S H
SH
Zackai
E H
EH
Muenke
M
M
D000293:Adolescent; D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D001921:Brain / Q000378:metabolism / Q000473:pathology; D017825:Canavan Disease / Q000175:diagnosis; D002526:Cerebellar Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002540:Cerebral Cortex / Q000378:metabolism / Q000473:pathology; D002794:Choline / Q000032:analysis; D003401:Creatine / Q000032:analysis; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007223:Infant; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged
D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline