Metachromatic leukodystrophy: on an atypical case.
We describe an atypical case of juvenile metachromatic leukodystrophy. Motor conduction velocity was still within the normal range 3 years after clinical onset, in contrast to what is commonly found in this disease. Another unusual feature is the normal level of CSF protein. These data are discussed in the light of the sural nerve biopsy findings, which revealed only slight impairment.
Zambrino
C A
CA
Divisione di Neuropsichiatria Infantile, IRCCS Fondazione Istituto Neurologico C. Mondino, Università di Pavia.
Balottin
U
U
Minelli
A
A
Rossi
G
G
Lanzi
G
G
D002648:Child; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000134:cerebrospinal fluid / Q000175:diagnosis*; D009431:Neural Conduction; D011597:Psychomotor Performance