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NEUROLOGY 1990;40:132
© 1990 American Academy of Neurology

Adult sphingomyelinase deficiency

Report of 2 patients who initially presented with psychiatric disorders

G. Dubois, PhD, J.-M. Mussini, MD, M. Auclair, MS, J. Battesti, MD, J.-M. Boutry, MS, J.-L. Kemeny, MD, J.-C. Mazière, MD, PhD, J.-C. Turpin, MD and J.-J. Hauw, MD

Laboratoire de Chimie Biologique (Drs. Dubois and Mazière, and M. Auclair), Faculté de Médecine Saint-Antoine, Paris; Service de Médecine Interne II (Dr. Mussini), Nantes; Service de Pneumologie and Laboratoire d'Anatomie et de Cytologie Pathologiques (Drs. Battesti and Kemeny), Hopital Avicennes, Bobigny; Laboratoire de Neuropathologie R. Escourolle (Dr. Hauw and J.-M. Boutry), FRA Association Claude Bernard, Hopital de La Salpêtrière, Paris; and Service de Neurologie (Dr. Turpin), Hôpital R. Debré, Reims, France.

We studied 2 unrelated adult patients under neuroleptic treatment who met all phenotypic and biochemical criteria for Niemann-Pick disease type B. In addition, they had chronic psychiatric disorders and low blood levels of HDL cholesterol. The marked and persistent deficiency of acid sphingomyelinase and the disturbance of sphingomyelin metabolism in skin fibroblast subcultures ruled out a pure drug-induced lipidosis. The association of Niemann-Pick disease type B with psychiatric disorders and with low levels of HDL cholesterol could be a chance association of 2 diseases, a new phenotype of Niemann-Pick type B, or the revelation by the neuroleptic treatment of a subclinical inborn sphingomyelinase deficiency.

Address correspondence and reprint requests to Dr. G. Dubois c/o Dr. J.C. Mazière, Laboratoire de Chimie Biologique, Faculté de Médecine Saint-Antoine 27 rue de Chaligny, 75012 Paris, France.

Received February 28, 1989. Accepted for publication in final form May 23, 1989.




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