Neuronal ceroid lipofuscinosis. Two case-reports with a literature review

A brother and sister with a history of multiple admissions to psychiatric h ospitals were found to have neuronal ceroid lipofuschinosis (NCL) in its pr olonged juvenile form reported by Goebel as a variant of the classic form d escribed by Spielmeyer-Vogt. An update is presented based on these two case s and a literature review. NCL is a heterogeneous group of degenerative neu ronal diseases characterized by pigment storage within lysosomes. Patients with clinical symptoms consistent with NCL should be evaluated for suggesti ve neurophysiological findings and, above all, for the presence of typical inclusions within numerous tissues including the skin. Although neurophysio logical, neuroradiological, biochemical, and genetic studies have shed ligh t on many facets of NCL, substantial gaps in our knowledge of this conditio n persist. DNA and linkage studies have been successful in providing prenat al diagnosis in high-risk families. Many forms of NCL have been reported, i ncluding early and late infantile forms, a juvenile form, an adult form, an d about 15 minor forms, all of which share manifestations establishing them as variants of the same condition.