Early Childhood Cerebral Lipidosis With Prominent Myoclonus

Abstract

DISTINCTIVE membranous cytoplasmic lipid inclusions have been demonstrated in ultrastructural studies of patients with infantile amaurotic idiocy (Tay-Sachs disease).^1-3This suggests that other lipidoses may also have characteristic morphological lipid configurations which would aid in their differentiation. The classification of cerebral lipidoses in older children is confused.⁴These have generally been divided into late infantile amaurotic idiocy (Bielschowsky-Jansky disease) and juvenile amaurotic idiocy (Batten-Spielmeyer-Vogt disease). Whether these lipidoses are separate entities or whether they are manifestations at different ages of a similar disease is disputed. Attempts have been made to correlate the ultrastructure of the lipid with the clinical syndromes termed late infantile amaurotic idiocy,^5,6systemic late infantile lipidosis,⁷juvenile amaurotic idiocy,^8,9and juvenile lipidosis.¹⁰Due to varying terminology, similar lipid inclusions are often described under different clinical names. No consistent pattern on electron microscopic examination has emerged. This report presents histochemical and