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Fabry disease

Significance of ultrastructural localization of lipid inclusions in dermal nerves

Departments of Biochemistry and Clinical Unit of the Eunice Kennedy Shriver Center For Mental Retardation, Inc., at the W. E. Fernald School (Drs. Cable and Kolodny), Waltham, MA; the Departments of Pathology, Beth Israel Hospital and Harvard Medical School, and the Charles A. Dana Research Institute, Beth Israel Hospital (Dr. Dvorak and Ms. Osage), Boston, MA; and the Departments of Neurology (Drs. Cable and Kolodny), Massachusetts General Hospital and Harvard Medical School (Drs. Dvorak and Kolodny), Boston, MA.

An ultrastructural examination of intradermal nerve fibers in Fabry disease revealed signs of lipid accumulation and small unmyelinated nerve fiber degeneration. Many axons were swollen, and their internal organelles were lost. In several damaged axons, dense inclusions, probably lipid, were observed. No lipid inclusions were found in Schwann cells, which may indicate that they utilize different metabolic processes or are impervious to ceramide trihexoside. It is hypothesized that Schwann cells and myelin sheaths act as a metabolic barrier protecting the larger myelinated fibers. Lacking this barrier, the smaller unmyelinated fibers are more susceptible to lipid infiltration. This view may explain the small fiber neuropathy in Fabry disease.

Address correspondence and reprint requests to Dr. Cable, Eunice Kennedy Shriver Center, 200 Trapelo Road, Waltham, MA 02154.

Presented in part at the thirty-second annual meeting of the American Academy of Neurology, New Orleans, LA, May 1980.

This investigation was supported in part by NIH grants Nos. HD05515, HD04147, HD07164, and CA28834.

Accepted for publication September 21, 1981.

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