Déjerine-Sottas disease, also known as hereditary motor and sensory neuropathy type III or hypertrophic interstitial polyneuritis, is a rare hereditary motor and sensory neuropathy (HMSN).
This syndrome should not be confused with Déjerine syndrome or Déjerine-Roussy syndrome.
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Clinical presentation
The disease is characterized by an early-onset (i.e. in childhood) demyelinating neuropathy and usually manifests as gradual progression of distal weakness, sensory loss, and areflexia in the legs. As the disorder progresses, involvement extends to the upper extremities, and palpable peripheral nerves become evident.
It tends that presents with distal extremity motor and sensory symptoms as well as palpable peripheral nerves. Cranial nerve involvement is reportedly seen in ~15% of cases.
Pathology
Genetics
It is largely inherited as an autosomal recessive condition, with occasional sporadic cases 1.
Radiographic features
Although not specific for the condition, MRI may reveal enlargement or thickening of the cranial nerves or nerve roots of the cord or cauda equina 1,3.
History and etymology
The syndrome was first described by Joseph Jules Déjerine (1849-1917) and Jules Sottas (1866-1945), French neurologists, in 1893 4.
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