Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

BACKGROUND: Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients. METHODS: We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency. RESULTS: Twenty-nine patients were included in the study, comprising these three forms. Overall, age of symptom onset was 0.1 to 43 years old. The most frequent variant identified was c.-32-13T>G, which was detected in 14 alleles. Among the 23 different variants identified in the GAA gene, 14 were classified as pathogenic, 5 were likely pathogenic, and 1 was a variant of uncertain significance. Two variants were inherited in cis arrangement and 2 were pseudodeficiency-related benign alleles. We identified two novel variants (c.1615 G>A and c.1076-20_1076-4delAAGTCGGCGTTGGCCTG). CONCLUSION: To the best of our knowledge, this series represent the largest phenotypic and genotypic characterization of patients with PD in Mexico. Patients within our series exhibited a combination of LOPD and IOPD associated variants, which may be related to genetic diversity within Mexican population. Further population-wide studies are required to better characterize the incidence of this disease in Mexican population.

Réplica: Síndrome de Guillain-Barré en tiempos de arbovirosis / Reply: Guillain-Barré syndrome in times of arbovirosis

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Agentes causales más frecuentes del síndrome de Guillain-Barré en un hospital de Veracruz, México / The most frequent causative agents of Guillain-Barré syndrome in a Mexican general hospital

Introducción. Con posterioridad a la oleada del virus del Zika y el incremento en la incidencia de síndrome de Guillain-Barré (SGB), se ha estudiado la relación causal, pero no se ha encontrado una plena correlación etiológica. Pacientes y métodos. Del 1 de enero al 31 de diciembre de 2017, se incluyeron pacientes con SGB. Además de las serologías básicas, se solicitaron determinaciones de enterovirus, virus del herpes, Campylobacter, hepatitis B y C, TORCH, virus de la inmunodeficiencia humana, Brucella y Salmonella. Resultados. Cohorte de siete pacientes de sexo masculino. A cinco pacientes se les analizó el líquido cefalorraquídeo, que era normal. A todos se les realizó una tomografía encefálica, también normal, y se realizó neuroconducción, que mostró polineuropatía inflamatoria desmielinizante aguda en cuatro casos y neuropatía motora axonal aguda en uno. Todos recibieron inmunoglobulinas intravenosas; tuvieron buen pronóstico cinco casos y hubo dos defunciones. No se informó de casos positivos al virus del Zika. Hubo un caso positivo al dengue, uno al chikungunya, cinco a Campylobacter y uno a enterovirus. Se informó de coinfecciones de dengue + Campylobacter en un caso y de chikungunya + Campylobacter en otro. Conclusiones. La presente cohorte demuestra que no fue posible establecer una relación causal entre el SGB y el virus del Zika, pero se identificaron otros agentes causales víricos y bacterianos, como dengue, chikungunya y enterovirus, y fue aún más destacable la identificación de los casos de Campylobacter

Introduction. After Zika virus outbreak and the increase in the incidence of Guillain-Barré syndrome (GBS), the causal relationship has been studied, however a full etiological correlation has not been found. Patients and methods. From January 1 to December 31, 2017, patients with GBS were included. In addition to the basic serologies, enterovirus, herpes, Campylobacter, hepatitis B and C, TORCH, HIV, Brucella and Salmonella were requested Results. Cohort of seven male patients. Five patients analyzed cerebrospinal fluid reporting normal; all of them underwent brain scan, reporting normal. Neuroconduction was performed, resulting in acute inflammatory demyelinating polyneuropathy in four cases and acute motor axonal neuropathy in one case. All received intravenous immunoglobulins, five cases had a good prognosis and two deaths. No positive cases were reported to Zika virus. A positive case was reported to dengue and another to chikungunya. Five positive cases were reported to Campylobacter. One case positive to enterovirus. Dengue + Campylobacter coinfections were reported in one case and chikungunya + Campylobacter in another case. Conclusions. The present cohort shows that it was not possible to establish a causal relationship between GBS and Zika virus, but other viral and bacterial causal agents were identified, such as dengue, chikungunya and enterovirus, with the identification of Campylobacter cases even more remarkable