CMT 2: Severe Neuropathy After Diphtheria-Tetanus-Pertussis Vaccination in a Chi

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J Child Neurol. 2009 May 11.

Severe Neuropathy After Diphtheria-Tetanus-Pertussis Vaccination in a Child

Carrying a Novel Frame-Shift Mutation in the Small Heat-Shock Protein 27 Gene.

Mandich P, Grandis M, Varese A, Geroldi A, Acquaviva M, Ciotti P, Gulli R,

Doria-Lamba L, Fabrizi GM, Giribaldi G, Pizzuti A, Schenone A, Bellone E.

Dept of Neurosciences, Ophthalmology & Genetics, University of Genova; and

Medical Genetics Unit, Azienda Ospedaliera Universitaria San o of Genova,

Italy.

Mutations in small heat-shock protein 27 and small heat-shock protein 22 genes

were found in association with Charcot-Marie-Tooth disease type 2 and distal

hereditary motor neuropathy.

We searched for mutations in small heat-shock protein 27 gene in an Italian

family with peripheral neuropathy and intrafamilial phenotypic variability. A

novel heterozygous frame-shift mutation c.476_477delCT was found while point

mutations in most genes associated with hereditary neuropathies were ruled out.

In the proband, who showed a severe early onset peripheral neuropathy, an

independent pathogenetic effect on the peripheral nervous system secondary to

the tetanus toxoid injection may be supposed.

This is the first truncating nonsense mutation in the small heat-shock protein

27 gene identified so far and the clinical, neurophysiologic, and

neuropathological findings are discussed.