title: [Clinical features of GM1 and GM2 gangliosidosis in own observation].
abstract: BACKGROUND
  Lysosomal enzyme defects leeds to intracellular storage and cause damage in many organs, almost always affects central nervous system. AIM. The aim of the study was to reveal the location and clinical characteristics of gangliosidosis in pediatric neurology.
  
  
  METHODS
  Gangliosidoses GM1 and GM2 (Sandhoff type) was diagnosed in 4 children, aged 1-13 years (mean 4,5 years), 2 girls and 2 boys. GM2 was diagnosed in 3 patients (early childhood in 2, juvenile in 1) and GM1 infantile form in 1, which was 0.024% of hospitalized children in 2007-2008. The diagnosis was made on the basis of blood leukocyte enzyme analyse.
  
  
  RESULTS
  Clinical course of both type infantile gangliosidosis revealed to be similar. Psychomotor deterioration and symptomatic epilepsy were predominant symptoms as well as typical changes of eye fundus like cherry red spot. Juvenile type was less symptomatic, with tremor, dysarthria and ataxia. Neuroimage changes varied and were normal in some, with changes in corpus callosum and with distant changes in white matter and subcortical nuclei in others.
  
  
  CONCLUSIONS
  Gangliosidosis should be suspected in adolescent with tremor, ataxia and dysarthria.
authors.affiliation: Katedra Neurologii Dzieci i Młodziezy i Klinika Neurologii Dzieciecej, Uniwersytet Jagielloński Collegium Medicum, Kraków. neupedkr@cm-uj.krakow.pl
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Steczkowska
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Gergont
authors.forename: Stawomir
authors.initials: S
authors.lastname: Kroczka
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Nowak
mesh_terms: D000293:Adolescent; D001259:Ataxia / Q000175:diagnosis; D015415:Biomarkers / Q000097:blood; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology; D003937:Diagnosis, Differential; D004401:Dysarthria / Q000175:diagnosis; D004827:Epilepsy / Q000175:diagnosis; D005260:Female; D020143:Gangliosidoses, GM2 / Q000097:blood / Q000175:diagnosis*; D016537:Gangliosidosis, GM1 / Q000097:blood / Q000175:diagnosis*; D054818:Hexosaminidase A / Q000097:blood; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D014202:Tremor / Q000175:diagnosis
chemical_list: D015415:Biomarkers; D054818:Hexosaminidase A