[Gaucher's disease: clinical picture in 11 children]. / Enfermedad de Gaucher: hallazgos clínicos en 11 niños.

BACKGROUND: Gaucher's disease, the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance with a deficiency of the acid b-glucosidase enzyme. Our objective was to describe the clinical features, symptoms, evolution and treatment of Gaucher's disease in Mexican pediatric patients. METHODS: the medical files of every patient diagnosed with Gaucher's treated during the last 11 years at the Pediatrics Department at General Hospital "Dr. Gaudencio González Garza" were reviewed. Demographic and clinical data were registered. RESULTS: eleven patients were diagnosed with Gaucher's Disease: eight women and three men between the age of 7 and 172 months. Four patients were classified as type I, two as type II and five as type III. CONCLUSIONS: a better understanding of the clinical features and diverse phenotypes in Mexican patients with Gaucher's disease will contribute to a timely diagnosis and a continuous, individualized treatment.

[Ocular findings in children with mucopolysaccharidosis]. / Hallazgos oculares en niños con mucopolisacaridosis.

OBJECTIVE: to describe the ocular findings in children with mucopolysaccharidosis at the Ophtalmology department. METHODS: clinical, descriptive, retrospective, transversal, and observational study was done. The cohort included patients under 16 years old, treated at the Hospital General, Centro Médico Nacional La Raza, with diagnosis of mucopolysaccharidosis. The variables were age, gender, damaged eye, visual acuity, ocular findings, type of mucopolysaccharidosis. RESULTS: there were 11 patients with mucopolysaccharidosis, 10 of them (90.9 %) full filled the inclusion criteria; nine were men. Mean age was 5.5 ± 2.8 years. There were ocular findings in both eyes in 60 % of the patients, 10 % of them in just one eye. The most frequent finding was corneal opacity (70 %), bilateral in 85.7 %, and in a single eye in 14.3 %. The ocular findings (40 %) were common in mucopolysaccharidosis type I. CONCLUSIONS: there is visual sequels secondary to mucopolysaccharidosis. It is important to study the ocular disorders in order to treat it timely and give to patients the immediate rehabilitation to improve the quality of life.