Infanto-Juvenile Encephaloneuropathy and Pigmentary Retinopathy in a Girl Associated with Congenital Adrenal Insufficiency and Altered Plasma Medium-Chain Fatty Acid Levels
The combination of adrenocortical insufficiency, pigmentary retinopathy, seizures, peripheral neuropathy and hepatomegaly was first reported by Dyck et al. (1981) in two male subjects and was associated with decreased hepatic arachidonic acid. In 1978, Allgrove et al. reported four cases, one of them female, from two different families, with adrenocortical deficiency, achalasia, decreased lachrymation and autonomic dysfunction.
KeywordsPhytanic Acid Allergic Conjunctivitis Serum Fatty Acid Superficial Peroneal Nerve Distal Motor Latency
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