Clinical and extraneural histologic diagnosis of neuronal ceroidlipofuscinosis

Neuronal ceroid-lipofuscinosis is manifested by visual and intellectual deterioration and seizures. Autofluorescent lipopigments are found in neural and many nonneural tissues, with characteristic staining and ultrastructural properties. Presumptive diagnosis can usually be made on the basis of history, physical examination, and electrodiagnostic tests, but in the absence of a specific biochemical defect, histologic confirmation is essential. A 6-year-old boy with the clinical appearance of the juvenile form of the disease had sea-blue histiocytes in the bone marrow, and curvilinear profiles in ultrastructural inclusions in skin biopsy tissue, cultured skin fibroblasts, and bone marrow cells.