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Órgano Oficial del Instituto Nacional de Pediatría

2020, Number 4

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Acta Pediatr Mex 2020; 41 (4)

Neurological disorders in patients with type 1 Gaucher disease in a pediatric hospital in Mexico: case series

Quiroz-Saavedra AR, Munive-Báez L, Carbajal-Rodríguez L

Language: Spanish
References: 14
Page: 153-158
PDF size: 292.57 Kb.


ABSTRACT

Introduction: Gaucher's disease is the most common sphingolipidosis caused by mutations in the GBA1 gene, located on chromosome 1 (1q21) which codifies for glucocerebrosidase enzyme. Clinical presentation of Gaucher's disease type 1 (GD1) is variable, although the significant feature is the absence of neurological impairment. We consider that GD is a spectrum in which we could find neurological manifestations at the central and peripheral levels in all types.
Objective: To describe the demographic characteristics and neurological alterations described in the physical examination in patients with GD1.
Materials and Methods: A observational, retrospective, cross-sectional, and descriptive study was made. The records of patients diagnosed and/or evaluated with genetic, enzymatic diagnosis, or both, of type 1 Gaucher disease, cared for in the Instituto Nacional de Pediatría, are included between January 2013 and December 2018.
Results: Seven male patients with a diagnosis of Gaucher type 1 were identified. In the physical examination, there was not identified progressive neurological deterioration but only non-conclusive isolated features.
Conclusion: The neurological manifestations in this pathology are non-specific. It is essential to perform full annual neurophysiological evaluations and neurocognitive evaluation to get a better knowledge of the neurological profile of this pathology.


REFERENCES

  1. Ginzburg L, et al. The pathogenesis of glycosphingolipid storage disorders. Semin. Cell Dev Biol 2004;15:417-431. https://doi.org/10.1016/j.semcdb.2004.03.003

  2. Hruska KS, et al. Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 2008;29:567-583. https://doi.org/10.1002/ humu.20676

  3. Vaccaro AM, et al. Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting. Hum Mol Genet 2010;19:2987-2997. https://doi. org/10.1093/hmg/ddq204

  4. Sidransky E. Gaucher disease: Insights from a rare Mendelian disorder. Discov Med 2012;14:273-281.

  5. Stirnemann J, et al. The French Gaucher’s disease registry: Clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis 2012;7:77. https://doi. org/10.1186/1750-1172-7-77

  6. Sidransky E, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson’s disease. N Engl J Med 2009;361:1651- 1661. https://doi.org/10.1056/nejmoa0901281

  7. Charrow J, et al. The Gaucher registry: Demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000;160:2835-2843. https:// doi.org/10.1001/archinte.160.18.2835

  8. Mehta A, et al. Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians. Mol Genet Metab 2017;122(3):122-129. https:// doi.org/10.1016/j.ymgme.2017.08.002

  9. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet 2008;372:1263-1271. https:// doi.org/10.1016/s0140-6736(08)61522-6

  10. Elstein D, et al. Children with type 1 Gaucher disease: Changing profiles in the 21st century. Blood Cells Mol Dis 2018;68:93-96. https://doi.org/10.1016/j.bcmd.2016.12.009

  11. Capablo JL, et al. Neurological evaluation of patients with Gaucher disease diagnosed as type 1. J Neurol Neurosurg Psychiatry 2008;79(2):219-222. https://doi.org/10.1136/ jnnp.2006.111518

  12. Kang H, et al. Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion tensor MR imaging. Eur J Radiol 2018;102:22-29. https://doi.org/10.1016/j.ejrad.2018.02.014

  13. Koprivica V, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000;66:1777-1786. https:// doi.org/10.1086/302925

  14. Pastores GM, et al. A neurological symptom survey of patients with type I Gaucher disease. J Inherit Metab Dis 2003;26(7):641-645. https://doi.org/10.1023/ b:boli.0000005623.60471.51




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