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

Mayo Clinic and Mayo Foundation (Drs. Dyck, Yao, Gomez, Hayles, and Lambert), Rochester, MN, the Lansing Pediatric Associates (Dr. Knickerbocker), Lansing, MI, and the Hormel Institute, Graduate School (Dr. Holman), University of Minnesota, Austin, MN.

Address correspondence and reprint requests to Dr. Dyck. Department of Neurology, Mayo Clinic, 200 1st Street SW, Rochester, MN 55901.

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.