Congenital dysautonomia. A case with a posterior interhemispheric cyst and microcephaly.
A non-Jewish child had a congenital sensory and autonomic neuropathy, cerebral hypoplasia, and a posterior interhemispheric cyst. The clinical findings, neuropathologic changes in the spinal cord, the peripheral nerves, the sensory and autonomic ganglia, as well as sural nerve morphometry, showed similarities, but also differences from familial dysautonomia and hereditary sensory neuropathy, type IV. The relationship of this case to hereditary sensory neuropathies and dysautonomias is discussed, and it is suggested that this is an atypical form of familial dysautonomia with coincidental developmental abnormalities.
D001927:Brain Diseases / Q000150:complications / Q000473:pathology; D003560:Cysts / Q000150:complications / Q000473:pathology; D004402:Dysautonomia, Familial / Q000150:complications / Q000473:pathology*; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn