Dejerine Sottas syndrome

Dejerine-Sottas Syndrome/Neuropathy (hereditary motor and sensory polyneuropathy type III; sometimes also described as a subtype III of Charcot-Marie-Tooth disease) is an autosomal dominant or autosomal recessive neuropathy.

Eponym
It is named for Joseph Jules Dejerine and Jules Sottas.

Causes
It has been associated with MPZ, PMP22, PRX, and EGR2.

Symptoms
It is usually characterized by infantile onset of moderate to severe lower and upper extremity weakness and loss of sensation.

Symptoms are usually more severe and rapidly progressive than in the other more common Charcot-Marie-Tooth diseases, and some carriers may never walk and be wheelchair-bound by the end of their first decade, while others may need only a cane (walking stick) or similar support through life.

Symptoms range from very common (muscle weakness, reduced sensation in the extremities, pain in the extremities, clawed hands and deformed feet, ataxia, peripheral areflexia) to rare (hearing loss, nystagmus, anisocoria).

Diagnosis
On medical imaging, the nerves of the extremities (and cranial nerves in some cases) appear enlarged due to hypertrophy of the connective interstitial tissue, giving the nerves a distinct 'onion-bulb' appearance. Peripheral (and possibly cranial) nerve excitability and conduction speed are reduced.