[Clinical symptoms and characteristic MR spectroscopic findings in Pelizaeus-Merzbacher disease].
Clinical symptoms and MR spectroscopic findings were studied on 4 cases of Pelizaeus-Merzbacher disease including 1 autopsy case. Common symptoms were severe mental retardation and spastic tetraplegia. These cases had nystagmus, and one had involuntary athetotic movement. Genetical diagnosis revealed in 2 cases, duplication of proteolipid protein (PLP) and deletion in 1, whereas one case had no abnormality of PLP gene. MRI indicated the reversal of signal intensities on T1- and T2-weighed images, a characteristic finding of PMD MR spectroscopy demonstrated a pattern of NAA in 3 cases. This was specific to PMD because other white matter diseases show a decrease in NAA. In conclusion, MRS was useful to differentiate PMD from other white matter diseases.
Kurata
K
K
Department of Neuropediatrics, Fuchu Metropolitan Medical Center of Severe Motor and Intellectual Disabilities, Fuchu, Tokyo.
Itoh
M
M
Uchiyama
A
A
Kurano
N
N
Kumada
S
S
Komine
M
M
Tanuma
N
N
Tomita
S
S
Matsui
R
R
D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001921:Brain / Q000378:metabolism / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D018991:Myelin Proteolipid Protein / Q000235:genetics; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis* / Q000503:physiopathology
D018991:Myelin Proteolipid Protein; D001224:Aspartic Acid; C000179:N-acetylaspartate