Spinal Cord Changes in Familial Dysautonomia

Abstract
FAMILIAL dysautonomia is an autosomal recessive disturbance affecting the nervous system with clinical characteristics sufficiently well established to permit diagnosis at an early age.1 Autonomic disturbances are decreased lacrimation, transient skin blotching, instability of temperature control, hyperhydrosis, blood pressure fluctuations with postural hypotension, and hypertensive episodes. Other neurologic manifestations include motor incoordination, pain insensitivity, hypoactive tendon reflexes, abnormal swallowing reflex, emotional lability, and episodic vomiting. As a recessively inherited disorder the basic defect should be attributable to a single enzyme deficiency, but, as yet, the metabolic defect has not been delineated.2 To date, neuropathological studies in familial dysautonomia have not offered a morphologic explanation for this constellation of signs and symptoms. In studies where changes have been seen, the lesions have been described in three sites: (1) reticular formation of the pons and medulla, (2) spinal cord, especially the posterior columns, and (3) peripheral autonomic ganglia