title: [Neuropathic Gaucher disease treated with long enzyme replacement therapy. Two clinical cases].
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 Jewish population. Several mutations have been defined among GD patients, and some genotypes related to neurologic affection have been described (L444P--most common mutation for neuropathic GD--188S, V394L and G377S). Lipid material storage or deposit exerts multiorganic affection. Enzyme replacement therapy (ERT) has demonstrable efficacy 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.
authors.affiliation: Servicio de Hemato-Oncología del Hospital General de Zona 1, Instituto Mexicano del Seguro Social, San Luis Potosí, San Luis Potosí, México. corc99@gmail.com.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Correa
mesh_terms: D056947:Enzyme Replacement Therapy; D005776:Gaucher Disease / Q000150:complications / Q000188:drug therapy*; D006801:Humans; D007223:Infant; D008297:Male; D009422:Nervous System Diseases / Q000188:drug therapy* / Q000209:etiology
keywords: Gaucher disease; glucosylceramide