Characterization of neuronal ceroid-lipofuscinosis in Venezuelan children

Introduction. Neuronal ceroid-lipofuscinosis (NCL), represents a group of inherited neurodegenerative disorders. Based on the age of the patient at onset, clinical course and ultraestructural morphology it has been identified three clinical types for the pediatric group: 1) Infantile NCL (INCL); 2) Late infantile NCL (LINCL); and 3) Juvenile NCL (JNCL). Other variants or atypical forms represent around 20% of the NCL in different populations. Genetic advances have made possible a better characterization, diagnostic and classification of these disorders. Case reports. We present the clinical, neurophysiological, neuroradiological, and morphological data from 6 patients with NCL, who were assessed at the pediatric neurology department of the Hospital Universitario de Maracaibo during a ten years period (1993-2003). All 6 cases corresponded with the late infantile form. Age of onset ranged form 2 to 5 years. For most of the patients initial symptoms included seizures, psychomotor delay, accompanied by macular degeneration and optic atrophy. The EEG was characterized by high voltage spikes elicited by low frequency photic stimulation, in 5 cases. Neuroimaging findings were characteristic of the late infantile form of the NCL. In three patients a decreased intensity of signal was seen in the thalami and putamine on T-2-weighted images. The ultraestructural examination of the samples obtained thru a biopsy showed curvilinear bodies in all patients. Conclusion. There is not epidemiological data of the NCL in Venezuela; it is presumed the presence of clinical forms and variants in the pediatric group. This first study could contribute to the knowledge and a better research of this group of disorders in our population.