Neuropathy of metachromatic leukodystrophy: improvement with immunomodulation.
A 4-year-old child with metachromatic leukodystrophy was initially diagnosed with chronic immune demyelinating polyneuropathy and treated with immunosuppressive therapy. Physical examination revealed diffuse, distal > proximal weakness and areflexia. Electro-diagnostic studies revealed nerve conduction velocities that were slowed to variable degrees in different nerves. In the 18 months after institution of immunomodulating therapy, she had functionally significant improvement and a quantitative increase in her strength. Treatment was discontinued at age 6 years when the patient developed urinary incontinence, followed by loss of motor and cognitive skills. We conclude that immunomodulation early in the course of metachromatic leukodystrophy presenting as a neuropathy may result in temporary functional improvement. Whether the immunomodulation altered the disease progression or had direct effects on the function of the dysmyelinated axons is not known.
Nevo
Y
Y
Department of Neurology, Barnes and St. Louis Children's Hospital, Washington University School of Medicine, USA.
Pestronk
A
A
Lopate
G
G
Carroll
S L
SL
D001379:Azathioprine / Q000627:therapeutic use*; D002675:Child, Preschool; D016572:Cyclosporine / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007116:Immunization, Passive; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000628:therapy*; D009431:Neural Conduction
D007166:Immunosuppressive Agents; D016572:Cyclosporine; D001379:Azathioprine