Familial adrenal insufficiency, achalasia, alacrima, peripheral neuropathy, microcephaly, normal plasma very long chain fatty acids, and normal muscle mitochondrial respiratory chain enzymes.
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.
Tsao
C Y
CY
Division of Neurology, College of Medicine, Ohio State University, Columbus.
Romshe
C A
CA
Lo
W D
WD
Wright
F S
FS
Sommer
A
A
D000293:Adolescent; D000309:Adrenal Insufficiency / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D004579:Electron Transport / Q000235:genetics*; D004798:Enzymes / Q000502:physiology; D004931:Esophageal Achalasia / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005227:Fatty Acids / Q000097:blood*; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007003:Hypoglycemia / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D008931:Mitochondria, Muscle / Q000201:enzymology*; D009133:Muscular Atrophy / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D013577:Syndrome
D004798:Enzymes; D005227:Fatty Acids; D006854:Hydrocortisone