Juvenile Type of Generalized Ceroid-Lipofuscinosis (Spielmeyer-Sjögren Syndrome) – I. Clinical findings

Abstract

Patients (13) with the clinical course of the juvenile type of generalized ceroid-lipofuscinosis were examined clinically, ophthalmologically, neurologically and psychiatrically. This included recording of the EEG, X-ray, brain scintigraphy, motor nerve conduction velocity, ERG [electroretinography], fundus photography and bioptical investigations including EM. The children suffered from a progressive decrease of visual acuity, decline of mental capacities and, later on, speech and gait disturbances. The characteristic findings were presented in case reports, 2 tables and 14 pictures.