Case presentation: Three cases of type I Gangliosidosis were diagnosed and followed up in our service
from 2013 to 2022. These cases were reviewed in clinical relevance, diagnostic measures
and therapeutic proposals. The patients onset symptoms when they were infants, presenting
refractory epilepsy, developmental regression and weight deficit. In clinical investigation,
one of the patients presented suggestive ophthalmological characteristic with a cherry
red spot in macula. After extensive investigation, including metabolic research, the
enzymatic alterations in common as β-galactosidase dysfunction and alterations in
quantitative tests, chromatography of oligosaccharides and sialyloligosaccharides
in urine, have already suggested a biochemical diagnosis for Gangliosidosis type I.
In addition, two patients had diagnosis corroborated with the identification of a
mutation in the GLB1 gene, after sequencing all the coding exons of this gene. Currently,
one of the patients is being followed up at the service, being a child followed up
for 8 years, showing a favorable performance in terms of longevity associated with
this disease.
Discussion: Type 1 Gangliosidosis is a rare disease characterized by ganglioside substrate accumulation
in lysosomes due to β-galactosidase enzyme deficiency. The clinical course can be
variable, highlighting neurodegeneration, skeletal changes and findings suggestive
of the disease, such as ophthalmological particularities. Laboratory diagnosis can
be made through analysis of enzymatic activity or biochemical identification of the
metabolite. Confirming the diagnosis, genetic mutation can be a predictor of the severity
of the clinical manifestation and helps to direct research therapeutic strategies.
Final comments: The objective of the description of this case series is to record the diagnostic
progress of a poorly disseminated metabolic disease, detailing the propaedeutic evidence
in an evolutionary and rationalized way. In addition, to contribute with recognition
of the disease as a differential diagnosis for eventually trivial complaints in the
context of Child Neurology, as seizures and delay in neuropsychomotor development,
reinforcing the importance of Inborn Errors of Metabolism as an etiological entity.
