Multisystem neuronal degeneration, hepatosplenomegaly, and adrenocortical deficiency associated with reduced tissue arachidonic acid
Dyck, P.J.; Yao, J.K.; Knickerbocker, D.E.; Holman, R.T.; Gomez, M.R.; Hayles, A.B.; Lambert, E.H.
Neurology 31(8): 925-934
1981
ISSN/ISBN: 0028-3878 PMID: 6267514 Document Number: 173018
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 were studied. 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.