Case series on type I gangliosidosis at a reference service for inborn errors of metabolism: from diagnostic strategies to therapeutic perspectives

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.

 

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Artikel online veröffentlicht:
18. September 2023