Familial, demyelinating sensory and motor polyneuropathy with conduction block.
Both multifocal, demyelinating features and prednisone responsiveness are rare in Charcot-Marie-Tooth (CMT) disease. We report a mother and son with a prednisone-responsive, multifocal, demyelinating, predominantly sensory polyneuropathy that was associated with an isoleucine92valine polymorphism of lipopolysaccharide-induced TNF-alpha factor (LITAF). The mother had a multifocal, acquired, demyelinating sensory and motor polyneuropathy (MADSAM)-like presentation. The son developed left peroneal neuropathy during acute Lyme disease with a subsequent relapsing, MADSAM-like illness, despite antibiotic treatment. Both shared prednisone responsiveness and multifocal, demyelinating features electrophysiologically. MADSAM may be familial (FaDSAM) and respond to prednisone.
Scelsa
Stephen N
SN
Neuromuscular Division, Department of Neurology, Beth Israel Medical Center, Albert Einstein College of Medicine, Phillips Ambulatory Care Center, 10 Union Square East, Suite 5D, New York, New York 10003, USA. sscelsa@chpnet.org
D000293:Adolescent; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction / Q000235:genetics; D011110:Polymorphism, Genetic; D011115:Polyneuropathies / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology