RESUMEN
Achalasia is rare in the pediatric population and should prompt clinicians to consider genetic disorders associated with this condition. While AAA syndrome (also known as Allgrove or Triple A syndrome) is commonly considered, GMPPA-congenital disorder of glycosylation (CDG) should also be in the differential diagnosis. We report a 9-month-old female born to nonconsanguineous parents with achalasia and alacrima found to have two novel compound heterozygous variants in the GMPPA gene associated with GMPPA-CDG. This rare disorder is commonly associated with developmental delay and intellectual disability. We discuss management of this disorder including the importance of confirming a genetic diagnosis and summarize reported cases.
Asunto(s)
Insuficiencia Suprarrenal , Trastornos Congénitos de Glicosilación , Acalasia del Esófago , Enfermedades Hereditarias del Ojo , Insuficiencia Suprarrenal/genética , Niño , Trastornos Congénitos de Glicosilación/complicaciones , Trastornos Congénitos de Glicosilación/diagnóstico , Trastornos Congénitos de Glicosilación/genética , Acalasia del Esófago/diagnóstico , Acalasia del Esófago/genética , Enfermedades Hereditarias del Ojo/genética , Femenino , Glicosilación , Humanos , LactanteRESUMEN
Matthew-Wood syndrome represents a rare genetic disorder characterized by diaphragmatic defects, pulmonary hypoplasia, micro- or anophthalmia, and cardiac defects. Most cases are lethal with very few infants living beyond a few years of life. Siblings with this diagnosis have been reported but never twins. In this article, we provided a review and discussion of this syndrome following its presentation in monochorionic, diamnionic twin females.