Dejerine-Sottas Syndrome

Hereditary degenerative disorder that primarily involves peripheral motor nerves but also involves sensitive and autonomic components.

Hypertrophic Neuropathy of Dejerine Sottas; Hereditary Motor and Sensory Neuropathy type III; HMSN III; Dejerine-Sottas Neuropathy.

Rare disorder.

Autosomal dominant. Gene possibly located on chromosome 8.

Interstitial hypertrophic neuropathy with abnormal myelin.

Usually, the nerve enlargements lead to palpable nerves by age 3 to 5 years. Cranial nerve or spinal nerve root enlargement may be seen on MRI or myelography. Elevated levels of cerebrospinal fluid protein are common. Ultimately, genetic mapping and nerve biopsy confirm the diagnosis. The histology shows onion-bulb aspects of nerve sheets.

Clinical manifestations begin in early infancy and are rapidly progressive. The course is characterized by exacerbations and remissions. They begin with distal muscular weakness, followed by gait disturbances, deformities of feet, kyphoscoliosis, and fasciculations. There is a distal sensory loss of all four extremities with incoordination of the arms and areflexia. Pupillary reflex is often blunted. Clinical differentiation between the different types of Dejerine-Sottas syndrome is sometimes difficult.

Often, children are scheduled for orthopedic procedures of the lower limbs (clubfoot or ulcers of the feet). Assess respiratory function with at least a chest radiograph to assess kyphoscoliosis and complete spirometry including voluntary maximal ventilation.

Poor airway control and poor pharyngeal tone place patients at high risk for aspiration. Autonomic nervous system involvement may jeopardize cardiovascular stability.

Peripheral denervation with excessive potassium response to succinylcholine. Nondepolarizing neuromuscular blocking agent may be used, and there is no prolonged response to these agents. However, because of poor respiratory reserve, extubate only when neuromuscular blocking agents are fully reversed and patient is fully awake.