Affiliation:
1. Division of Neurology
2. Division of Endocrinology
3. Division of Genetics, Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH
Abstract
Adrenal insufficiency has been associated with adrenoleukodystrophy and adrenomyeloneuropathy. In these diseases, plasma very long chain fatty acids are elevated. Peripheral neuropathy is frequently seen in adults with adrenomyeloneuropathy. We encountered two first cousins with adrenal insufficiency, who also developed peripheral neuropathy, achalasia, alacrima, and microcephaly. However, plasma very long chain fatty acids, pipecolic acid, phytanic acid, and cranial computed tomographic scan were normal. Muscle mitochondrial respiratory chain enzymes were also normal. This syndrome of adrenal insufficiency, achalasia, alacrima, microcephaly, and peripheral neuropathy is different from either adrenomyeloneuropathy or adrenoleukodystrophy. ( J Child Neurol 1994;9:135-138).
Subject
Neurology (clinical),Pediatrics, Perinatology and Child Health
Cited by
22 articles.
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