To report a new Dejerine-Sottas phenotype in a family carrying Trembler mouse mutation.

Dejerine-Sottas syndrome is a severe hereditary neuropathy with heterogeneous genetic transmission. Both autosomal dominant and autosomal recessive inheritance patterns have been described.

Only one report of a mother and son with Dejerine-Sottas syndrome carrying the mutation gly150asp in the Gene PMP22 has been previously reported in 1997. This exact mutation is found in the Trembler mouse used to study Charcot-Marie-Tooth disease (CMT).

Case series

A 43-year-old woman  presented with gross ataxia which started in her childhood. She stopped walking at age 10 and has been wheelchair-bound since adolescence. Neurological examination revealed profound sensory ataxia and hearing loss as well as mild cognitive impairment. Nerve conduction studies revealed severe sensorimotor  neuropathy. Genetic testing results showed she was heterozygous for point mutation mutation gly150asp in PMP22 gene. Her 20 year old son has a similar phenotype and was carrying the same mutation. He is currently uses crutches for ambulation.

In addition to severe peripheral neuropathy, both the mother and son were found to have cognitive impairment and hearing loss. It is worth noting that neither the cognitive impairment nor the hearing loss were reported in the 1997 case. This report extends the clinical spectrum of Dejerine-Sottas Syndrome to involve the central nervous system and cranial nerves.