Multisystem neuronal degeneration, hepatosplenomegaly, and adrenocortical deficiency associated with reduced tissue arachidonic acid

Peter James Dyck, Jeffrey K. Yao, Donald E. Knickerbocker, Ralph T. Holman, Manuel R. Gomez, Alvin B. Hayles, Edward H. Lambert

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

We studied two brothers with a previously unrecognized syndrome characterized by failure to thrive, visual loss resulting from retinitis pigmentosa, sensorineural hearing loss, mental retardation, distal progressive muscular atrophy, hepatosplenomegaly, and adrenocortical deficiency. Biopsied tissue showed a consistent reduction of arachidonic acid and other polyunsaturated fatty acids, but not of linoleic acid. Deranged metabolism and specifically a deficiency of polyunsaturated fatty acids, including arachidonic acid, may be involved.

Original languageEnglish (US)
Pages (from-to)925-934
Number of pages10
JournalNeurology
Volume31
Issue number8
DOIs
StatePublished - Aug 1981

ASJC Scopus subject areas

  • Clinical Neurology

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