Reports Summarize Neuronal Ceroid Lipofuscinoses Research from Hospital Pequeno Principe (Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil).

A recent study conducted at Hospital Pequeno Principe in Curitiba, Brazil, examined the phenotypic and genotypic characteristics of children with neuronal ceroid lipofuscinoses (CLNs), a group of genetic lysosomal storage disorders characterized by neurodegeneration and the accumulation of lipopigment. The study analyzed medical records, imaging, and laboratory tests of 11 patients from nine families with different subtypes of CLNs. The researchers identified 16 mutation variants in genes associated with CLNs, with varying clinical phenotypes depending on the subtype and its variants. The study concluded that the novel mutations found in the patients exhibited rapid and severe progression, consistent with previous literature. [Extracted from the article]