Gaucher Disease: Identification and Novel Variants in Mexican and Spanish Patients.

Background: Gaucher disease (GD) is the most prevalent lysosomal storage disorder, affecting all ethnic groups, although its prevalence is higher in Ashkenazi Jewish populations. Three clinical forms of GD have been described: Type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 subacute neuronopathic. An autosomal recessive disorder is caused by variants in the human glucocerebrosidase gene (GBA; MIM*606463) located on chromosome 1q21, resulting from deficit or lack of activity of the β-glucocerebrosidase enzyme, leading to the accumulation of glucocerebroside substrate in the cells of the macrophage-monocyte system.

Survival of Mexican children with acute myeloid leukaemia who received early intensification chemotherapy and an autologous transplant.

Background: In Mexico and other developing countries, few reports of the survival of children with acute leukaemia exist. Objective. We aimed at comparing the disease-free survival of children with acute myeloid leukaemia who, in addition to being treated with the Latin American protocol of chemotherapy and an autologous transplant, either underwent early intensified chemotherapy or did not undergo such treatment.

[Dentigerous cyst in a pediatric patient with acute lymphoblastic leukemia type 1].

Objective: To report medical and surgical treatment in a patient with acute lymphoblastic leukemia type 1 who developed a dangerous cyst.

Clinical Case: A male of 8 years with acute lymphoblastic leukemia type 1, whose treatment was in induction. In one month, the patient presented a facial asymmetry due to mandibular growth and acute pain, hyperthermia and malaise.

[Gaucher's disease: clinical picture in 11 children].

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.

[Mexican consensus on Gaucher's disease].

The lysosomal storage diseases (LSD) are a group of entities with a meaningful organic affectation profile and important morbidity-mortality rates, which considerably affect the patients' quality of life. At present, new LSD are regularly described because their physiopathological mechanism is recognized and they are susceptible to be treated with enzyme replacement therapy. During 2009, a cross-disciplinary group of Mexican experts on the Gaucher's disease gathered to develop diagnosis and treatment guidelines.

The age incidence of childhood B-cell precursor acute lymphoblastic leukemia in Mexico City.

The objective of this population-based survey was to assess the peak age of incidence of B-cell precursor acute lymphoblastic leukemia (ALL) in children in Mexico City (MC). All patients were classified according to their immunophenotype, and only B-cell precursor and T-lineage were analyzed. Rates of incidence were calculated x10 children.