• Luz M Sánchez-Sánchez, Carmen Ávila-Rejón, Rubicel Díaz-Martínez, Brenda Díaz-Murillo, Ekaterina Kazakova, Jaime López-Valdez, Valentina Martínez-Montoya, Julio Olaiz-Urbina, Pablo Radillo-Díaz, Edgar Ricárdez-Marcial, Roberto Sandoval-Pacheco, Benjamín Torres-Octavo, and Imelda Vergara-Sánchez.
• Pediatrcs Department, Specialty Hospital 25, Instituto Mexicano del Seguro Social, Nuevo León.
• Gac Med Mex. 2022 Jan 1; 158 (5): 265270265-270.

IntroductionPompe disease (PD) is a rare form of metabolic myopathy; the classic infantile presentation is severe, with death occurring before reaching one year of life, and the non-classical form is of slower progression and survival can exceed one year.ObjectiveTo describe the genotype and characteristics of Mexican patients with infantile-onset PD.MethodsSeven patients with PD confirmed by enzymatic activity determination and GAA gene molecular analysis were included. Mutations were reviewed in genomic databases.ResultsMedian age at symptom onset was four months (1-12 months) and age at diagnosis was eight months (4-16 months). All patients had cardiomyopathy: four who died before one year of age had mutations that predicted severe disease (c.2431dup, c.2560C>T, c.655G>A, c.1987delC) and were negative for cross-reactive immunologic material (CRIM). Three patients survived after one year of age with enzyme replacement therapy; one survived almost five years, another 18 months, and one girl was almost three years of age at the time of this report; their pathogenic variants predicted potentially less severe disease (c.1979G>A, c.655G>A, c.1447G>A) and they were positive for CRIM.ConclusionThere was a good correlation between genotype and phenotype in children with Pompe disease.Copyright: © 2022 Permanyer.

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