Familial, demyelinating sensory and motor polyneuropathy with conduction block

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Muscle/Nerve Nov. 25 2009

Familial, demyelinating sensory and motor polyneuropathy with conduction block

Scelsa SN.

Neuromuscular Division, Department of Neurology, Beth Israel Medical Center,

Albert Einstein College of Medicine, Ambulatory Care Center, 10 Union

Square East, Suite 5D, New York, New York 10003, USA.

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.