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NEUROLOGY 1985;35:415
© 1985 American Academy of Neurology

Marinesco-Sjögren syndrome

Evidence for a lysosomal storage disorder

Patrick D. Walker, MD, Miriam G. Blitzer, PhD and Emmanuel Shapira, MD, PhD

Hayward Genetics Center, Departments of Pathology, Pediatrics, and Biochemistry, Tulane University School of Medicine, New Orleans, LA.

The inherited abnormality of the Marinesco-Sjögren syndrome is not known. We studied four patients from two different families and ethnic groups. Electron microscopic studies revealed numerous, abnormally enlarged lysosomes that contained whorled lamellar or amorphous inclusion bodies. Enzyme studies excluded previously described lysosomal storage disorders.

Address correspondence and reprint requests to Dr. Shapira, The Hayward Genetics Center, Tulane University School of Medicine, 1430 Tulane Avenue, New Orleans, LA 70112.

Miriam G. Blitzer is the Charles E. Culpeper Foundation Fellow, 1983-85.

Accepted fnr publication June 18, 1984.




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