Hereditary degenerative disorder that primarily
involves peripheral motor nerves but also involves sensitive and autonomic
Hypertrophic Neuropathy of Dejerine Sottas; Hereditary
Motor and Sensory Neuropathy type III; HMSN III; Dejerine-Sottas Neuropathy.
Autosomal dominant. Gene possibly located on
Interstitial hypertrophic neuropathy with abnormal
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
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
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.
Beisty JC, Alloza C, Alvarez J, et al: General anesthesia in a patient
with Dejerine-Sottas disease. Rev Esp Anesthesiol Reanim
Murakami T, Garcia CA, Reiter LT, et al: Charcot-Marie-Tooth disease and
related inherited neuropathies. Medicine