Late Infantile Neuronal Ceroid Lipofuscinosis in a Tunisian Boy

The classical form of late infantile neuronal ceroid lipofuscinosis is a childhood hereditary neurodegenerative disease usually fatal in the first decade of life. We report a two-year-old Tunisian boy who presented this form of ceroid lipofuscinosis. A febrile seizure was the presenting symptom without psychomotor delay. Magnetic resonance imaging of the brain showed mild cerebellar atrophy. Fundus oculi showed bilateral posterior polar cataract, which is a new finding in the classical form of late infantile neuronal ceroid lipofuscinosis. A homozygous R208X mutation was identified in the NLC2 gene. On follow up, this patient presented with myoclonic epilepsy and regression of acquired milestones.