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Hereditary motor and sensory neuropathy (HMSN) types I and III and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in developed countries are the most frequent causes of enlargement of peripheral nerves, “hypertrophic neuropathy”,1 with clinically palpable thickened nerves,2 visible on MRI.3-6 They may even be the cause of spinal cord compression.7 8
We report on a patient who developed clinical features that were interpreted elsewhere initially as a Guillain-Barré syndrome, and years later diagnosed as Dejerine-Sottas disease (HMSN III). We discuss the differential diagnosis between HMSN III and CIDP in this patient with a fluctuating but insidiously progressive 26 year history, in whom MRI demonstrated marked enlargement of multiple cranial nerves and spinal roots. We think that this is a dramatic example of cranial nerve and spinal root enlargement in a case of CIDP, and stress the importance of making a correct differential diagnosis when the disease presents in early childhood.
A 30 year old woman had had an upper respiratory infection at the age of 4; a few days later she had developed a rapidly progressive mixed motor and sensory distal impairment of all four limbs, more pronounced in lower limbs. Seen then in a children’s hospital, she was diagnosed as possibly having Guillain-Barré syndrome on the basis of altered electrophysiological studies, and an acellular CSF with high protein content (1.9 g/l). She remained stable for 3 months, improving slowly with physiotherapy, but never reached normality again.
Two years after the onset, she was again investigated because of progressive kyphoscoliosis, pes cavus, and hammer toes for which she had reconstructive surgery. By then there had been clear neurological progression with increased generalised muscle atrophy and weakness distally in all four limbs, more so in the lower limbs, with distal sensory loss (pain, temperature, and light touch), but …