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Infantile osteopetrosis and neuronal storage disease

From the Department of Pathology, Rhode Island Hospital (Drs. Ambler, Trice, and O'Shea), Office of the Medical Examiner (Dr. Grauerhotz), and Brown University, Providence, RI.

Infantile osteopetrosis often presents with neurologic symptoms that cannot always be attributed to primary bone disease of the skull. We studied an infant with osteopetrosis and pathologic evidence of neuronal and axonal changes. This is the third case in which primary parenchymal disease of the brain was associated with infantile osteopetrosis and the first in which neuronal cytoplasmic storage was documented by light and electronmicroscopy. The simultaneous occurrence of two rare autosomal-recessive disorders, each possibly caused by an inherited lysosomal enzyme deficiency, may not be fortuitous.

Address correspondence and reprint requests to Dr. Ambler, Rhode Island Hospital, 593 Eddy Street, Providence, RI 02902.

Accepted for publication July 23, 1982.

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