Dejerine-Sottas disease


Dejerine-Sottas disease

 [deh″zher-ēn´sot´tahz] progressive hypertrophic interstitial neuropathy.

De·je·rine-Sot·tas dis·ease

(dĕ-zhĕ-rēn' sō-tahz'), a familial type of demyelinating sensorimotor polyneuropathy that begins in early childhood and is slowly progressive; clinically characterized by foot pain and paresthesias, followed by symmetric weakness and wasting of the distal limbs; one of the causes of stork legs; patients are wheelchair bound at an early age; peripheral nerves are palpably enlarged and nontender; pathologically, onion bulb formation is seen in the nerves: whorls of overlapping, intertwined Schwann cell processes that encircle bare axons; usually autosomal recessive inheritance; an autosomal dominant form also exists; both forms can be caused by mutations in the peripheral myelin protein gene 22 (PMP22) on 17q or in the myelin protein zero gene (MPZ) on 1q. Synonym(s): Dejerine disease, hereditary hypertrophic neuropathy, progressive hypertrophic polyneuropathy

Dejerine-Sottas disease

A severe autosomal dominant or recessive Charcot-Marie-Tooth type demyelinating disorder (OMIM:145900) of early (< age 2) onset, which is characterised by motor and sensory neuropathy with very slow nerve conduction velocities, increased CSF protein concentrations, hypertrophic nerves, delayed age of walking, and areflexia.
Molecular pathology
Defects in PMP22, which encodes peripheral myelin protein 22, cause Dejerine-Sottas disease.

De·je·rine-Sot·tas dis·ease

(dĕ-zhĕ-rēn'-sō-tahz' di-zēz') A familial type of demyelinating sensorimotor polyneuropathy that begins in early childhood and is slowly progressive; clinically characterized by foot pain and paresthesias, followed by symmetric weakness and wasting of the distal limbs; one of the causes of stork legs; patients are nonambulatory at an early age; peripheral nerves are palpably enlarged and nontender; pathologically, onion bulb formation is seen in the nerves: whorls of overlapping, intertwined Schwann cell processes that encircle bare axons; usually autosomal recessive inheritance.
Synonym(s): Dejerine disease, progressive hypertrophic polyneuropathy.

Dejerine,

Joseph J., Paris neurologist, 1849-1917. Dejerine anterior bulbar syndrome - occlusion of anterior spinal arteries with involvement of cortical spinal tract, hypoglossal nerves, and medial lemnisci.Dejerine cortical sensory syndrome - (1) radiculitis; - (2) bulbar syndrome caused by medullar lesion and resulting in cranial nerve paralysis in the area; - (3) polyneuropathy resulting in depression of deep sensation; tactile sensation remains normal.Dejerine disease - Synonym(s): Dejerine-Sottas diseaseDejerine hand phenomenon - clonic contractions of the flexors of the hand (wrist) on tapping the dorsum of the hand or the volar side of the forearm near the wrist, exaggerated in pyramidal tract lesions. Synonym(s): Dejerine reflexDejerine reflex - Synonym(s): Dejerine hand phenomenonDejerine sign - aggravation of symptoms of radiculitis by the acts of coughing, sneezing, or straining to defecate.Dejerine-Landouzy dystrophy - Synonym(s): Landouzy-Dejerine dystrophyDejerine-Landouzy myopathy - Synonym(s): Landouzy-Dejerine dystrophyDejerine-Lichtheim phenomenon - Synonym(s): Lichtheim signDejerine-Roussy syndrome - infraction of posteroinferior thalamus causing transient hemiparesis, severe loss of superficial and deep sensation with preservation of crude pain in the limbs with decreased sensation; the limbs frequently have vasomotor or trophic disturbances. Synonym(s): thalamic syndromeDejerine-Sottas disease - a familial type of demyelinating sensorimotor polyneuropathy that begins in early childhood and is slowly progressive. Synonym(s): Dejerine disease; Dejerine-Sottas neuropathy; progressive hypertrophic polyneuropathyDejerine-Sottas neuropathy - Synonym(s): Dejerine-Sottas diseaseLandouzy-Dejerine dystrophy - see under Landouzy

Sottas,

Jules, French neurologist, 1866-1943. Dejerine-Sottas disease - see under DejerineDejerine-Sottas neuropathy - Synonym(s): Dejerine-Sottas disease