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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. The aim was to determine variants in Mexican and Spanish populations with GD. Methods We report the molecular analysis by a direct automatic method sequenced of both chains of the GBA gene, in 69 Mexican and 369 Spanish patients with GD. Results We detected 75 variants with pathogenic or likely pathogenic effect and, identified 3 new variants c.408_412del/p.Asn136Lysfs*15; c.820G>A/p.Glu274Lys and c.1058T>G/p*. The most frequent variants were c.1448T>C/p.Leu483Pro/L444P and c.1226A>G/p.Asn409Ser/N370S. The detected genotypes were compared with data from both GD registries to define similarities and differences in both populations. Conclusions We defined the variant profile in patients with GD in a Mexican and a Spanish population and compared them. The screening permitted the detection of common variants and the report of three new variants, in addition to a variant associated with Parkinson disease but not with GD. Since molecular diagnosis has considerable predictive value in GD, it is important to study the genotype-phenotype correlations, establishing the severity of the variant.

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. Of the 364 children from MC who were included in this study, immunophenotyping had been performed for 81.6%. The frequency of B-cell precursor ALL was 76.1%, whereas T lineage ALL showed a frequency of 23.6%. Peak age for ALL was 2 to 3 years of age. B-cell precursor ALL was the major contributor to peak age; T lineage ALL showed a peak among 1 and 3 years of age. We conclude that the age peak for children with ALL in MC is within the ranges reported for developed countries and that B-cell precursor ALL is the main contributor to these peak.

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.Procedure. This was a cohort study with a historical control group, forty patients, less than 16 years old. Group A (20 patients), diagnosed in the period 2005–2007, was treated with the Latin American protocol of chemotherapy with an autologous transplant plus early intensified chemotherapy: high doses of cytarabine and mitoxantrone. Group B (20 patients), diagnosed in the period 1999–2004, was treated as Group A, but without the early intensified chemotherapy.Results. Relapse-free survival for Group A was 90% whereas that for Group B it was 60% (P=0.041). Overall survival for Group A (18, 90%) was higher than that for Group B (60%). Complete remission continued for two years of follow-up.Conclusions. Relapse-free survival for paediatric patients treated with the Latin American protocol of chemotherapy with an autologous transplant plus early intensified chemotherapy was higher than that for those who did not receive early intensified chemotherapy.

To report medical and surgical treatment in a patient with acute lymphoblastic leukemia type 1 who developed a dangerous cyst.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. In the examination, we identified lip parestesia, a second temporal molar treated with chromium steel and expansion involving the cortical of the lateral permanent incisive until the first permanent molar was identified. Since we suspected of bone metastasis, we performed an orthopantomography. We established the diagnosis of dentigerous cyst. Enucleation, curettage, and extraction of decay teeth were done in order to avoid and prevent infectious sources.The most frequent clinical manifestations of acute lymphoblastic leukemia are anemia, leukopenia, and thrombocytopenia. This leukemia may be manifested also as infiltration of the jaw bone. In this case, the results showed no presence of bone metastasis. As a first step before to begin treatment, the physician ought to make sure that the patient is free of infectious processes anywhere that may influence the clinical development of leukemia. Due to the surgical intervention and to a successful bone marrow transplant, the patient is on remission.describir el tratamiento médico-quirúrgico en un niño con leucemia linfoblástica aguda tipo 1 que desarrolló un quiste dentígero. CASO CLÍNICO: niño de ocho años de edad con leucemia linfoblástica aguda, cuyo tratamiento estaba en fase de inducción. En el transcurso de un mes, el niño presentó asimetría facial por aumento de la mandíbula, así como dolor agudo, hipertermia y malestar general. A la exploración se identificó parestesia labial, segundo molar temporal con restauración de corona de acero cromo y expansión de la cortical del incisivo lateral permanente hasta primer molar permanente. Por sospecha de metástasis ósea se realizó una ortopantomografía con la que se estableció el diagnóstico de quiste dentígero. Se realizó enucleación, curetaje y extracción de órganos dentarios cariados para prevenir infecciones.las manifestaciones clínicas más frecuentes de la leucemia linfoblástica aguda suelen ser anemia, trombocitopenia, leucopenia y ocupación de la médula ósea por blastos. También puede manifestarse con infiltrado óseo en mandíbula; en el paciente descrito no se demostró metástasis ósea. Antes de iniciar el tratamiento de la leucemia linfoblástica aguda, se debe verificar que los pacientes estén libres de fuentes de infección que pudieran influir en su evolución. Debido a la intervención quirúrgica oportuna y al trasplante autólogo de médula, al momento de este informe el paciente se encontraba en remisión.

"Objetivo: describir el tratamiento médico-quirúrgico en un niño con leucemia linfoblástica aguda tipo 1 que desarrolló un quiste dentígero. Caso clínico: niño de ocho años de edad con leucemia linfoblástica aguda, cuyo tratamiento estaba en fase de inducción. En el transcurso de un mes, el niño presentó asimetría facial por aumento de la mandíbula, así como dolor agudo, hipertermia y malestar general. A la exploración se identificó parestesia labial, segundo molar temporal con restauración de corona de acero cromo y expansión de la cortical del incisivo lateral permanente hasta primer molar permanente. Por sospecha de metástasis ósea se realizó una ortopantomografía con la que se estableció el diagnóstico de quiste dentígero. Se realizó enucleación, curetaje y extracción de órganos dentarios cariados para prevenir infecciones. Conclusiones: las manifestaciones clínicas más frecuentes de la leucemia linfoblástica aguda suelen ser anemia, trombocitopenia, leucopenia y ocupación de la médula ósea por blastos. También puede manifestarse con infiltrado óseo en mandíbula; en el paciente descrito no se demostró metástasis ósea. Antes de iniciar el tratamiento de la leucemia linfo-blástica aguda, se debe verificar que los pacientes estén libres de fuentes de infección que pudieran influir en su evolución. Debido a la intervención quirúrgica oportuna y al trasplante autólogo de médula, al momento de este informe el paciente se encontraba en remisión"

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.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.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.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.

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. This document presents the approach and recommendations of Mexican experts, according to the demography, resources, and epidemiologic reality in Mexico, a country with over 100 million inhabitants.