Abstract
Introduction Neuronal ceroid lipofuscinoses (CLNs) are a group of lysosomal storage disorders
of genetic origin, characterized by progressive neurodegeneration and intracellular
accumulation of autofluorescent lipopigment. Thirteen genes related to CLNs are currently
described, showing genetic and allelic heterogeneity, most of them with an autosomal
recessive pattern. Due to the few descriptions of cases related to CLNs in Brazil,
it is necessary to describe the phenotypic and genotypic characteristics of these
patients. This study aims to evaluate the genotypic profile and correlate it with
the phenotypic characteristics of patients with CLN in a children's hospital.
Methods This study was performed as a descriptive cross-sectional study with analysis of
medical records, imaging, and laboratory tests of patients who had a confirmed molecular
diagnosis of CLN.
Results The sample consisted of 11 patients from nine families with different subtypes of
CLNs (CLN2, 5, 6, 7, and 8), with CLN2 being the most prevalent in the study. A total
of 16 mutation variants were identified in genes associated with the five CLNs described
in this study, with typical and atypical clinical phenotypes depending on the subtype
and its variants.
Conclusion Novel mutations identified in the patients in this study showed phenotypes of rapid
and severe progression in the CLN2 patient and similar characteristics in CLN6 and
CLN7 patients, as previously described in the literature.
Keywords
ceroid lipofuscinosis - neuronal - genetic association studies - children
