Correa C

Language: Spanish
References: 5
Page: 340-343
PDF size: 72.98 Kb.

ABSTRACT

Gaucher disease (GD) is the most common of all inherited lipid storage diseases. It is an autosomal recessive disorder portraying catabolism and cerebroside deposit in the lysosomes, which is due to a lack of glucocerebrosidase enzyme. Though GD shows a panethnic pattern of presentation, it particularly affects the Ashkenazi Jew Population. Several mutations have been defi ned among GD patients, and some genotypes related to neurologic affection have been described (L444P—most common mutation for neuropathic GD—N188S, V394L and G377S). Lipid material storage or deposit exerts multiorganic affection. Enzyme replacement therapy (ERT) has demonstrable effi cacy in reversing organic damage related to GD, though its capability to stop neurologic affection is currently under controversy and particular research. This paper portrays two GD cases of Mexican children treated with ERT at general zone hospitals of the Instituto Mexicano del Seguro Social in recent years, both of them depicting characteristic type 3 GD mutations, and comparing their clinical evolution with and without neurological features.

REFERENCES

1. Campbell PE, Harris CM, Vellodi A. Deterioration of the auditory brainstem response in children with type 3 Gaucher disease. Neurology. 2004;63(2):385-387.

2. Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefi eld BK, et al. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res. 2003;53 (3):387-395.

3. Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol. 2005;129(2):178-88.

4. Lebel E, Dweck A, Foldes AJ, Golowa Y, Itzchaki M, Zimran A, et al. Bone density changes with enzyme therapy for Gaucher disease. J Bone Miner Metab. 2004;22(6):597-601. Texto libre en: http://www. springerlink.com/content/l6k1am55ben- 1vmv7/fulltext.pdf

5. Filocamo M, Mazzotti R, Stroppiano M, Grossi S, Dravet C, Guerrini R. Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). Epilepsia. 2004;45(9):1154-7. Texto libre en: http://onlinelibrary.wiley.com/doi/10.1111/j. 0013-9580.2004.15904.x/pdf