The diagnosis of infantile generalized ceroidlipofuscinosis (type Hagberg-Santavuori) using skin biopsy

Abstract

Skin biopsies were performed in two cases of infantile generalized ceroidlipofuscinosis. In the first case the biopsy was done at the age of 8 years and the diagnosis was confirmed shortly thereafter by a postmortem examination. In the second case, the biopsy was performed much earlier (27 months) at a time when the diagnosis was not suspected; it was subsequently confirmed by similar findings in a neuro-muscular biopsy. In both cases, numerous cytoplasmic inclusions with granular osmiophilic deposits were present in epidermal cells, eccrine sweat glands, smooth muscle cells, nurve fascicles, fibroblasts and vascular elements while none were found in age-matched controls. As already stressed by Anzil et al. (1975), the morphology of the inclusions can be heterogeneous and linear profiles were often observed, mainly in the cytosomes present in the vascular cells. We feel confident that a diagnosis of infantile generalized ceroid-lipofuscinosis can be made by skin biopsy obviating therefore the need for other surgical procedures.