Lipofuscinosis neuronal ceroidea infantil tardía: Reporte de un caso

Late infantile neuronal ceroid lipofuscinosis: A case report Among the progressive myoclonic epilepsies, neuronal ceroid lipofuscinosis are rare hereditary conditions that usually affect the pediatric population. These lead to neuro-developmental regression, severe progressive myoclonic epilepsy, ataxia and early death. There are 8 known types of genetic mutations that cause this condition. The diagnosis remains mainly on clinical grounds, with the corroboration by imaging studies such as computed tomography and magnetic resonance imaging, and electrographic findings (EEG). The staining of tissue biopsy and electron microscopy provide excellent ancillary tool. In this article we present a 4-yearold boy whose clinical manifestations including seizure semiology and age of presentation, neurodevelopmental regression, neuroimaging, neurophysiologic and neuropathology data, helped to confirm the diagnosis of late-infantile neuronal ceroid lipofuscinosis.