RESUMEN
We report for the first time a novel missense variant in NHLRC2. We extend the NHLRC2 gene associated neuropsychological and neuroimaging phenotype, and propose that the NHLRC2 gene should be considered in patients with symptoms of atypical Rett syndrome. We also summarise currently available literature on neuropsychological symptoms in children with FINCA who survived into late childhood.
Asunto(s)
Síndrome de Rett , Niño , Humanos , Mutación Missense , Fenotipo , Síndrome de Rett/genética , Sobrevivientes , SíndromeRESUMEN
The authors present a 32-year-old male patient with incarceration of a recurrent esophageal hiatal hernia after laparoscopic repair. A life-threatening strangulation of the stomach and the transverse colon occurred within a few days after the operation. Relapse of hiatal hernias amounts to almost half of early complications characteristic for the laparoscopic approach. General recommendations regarding surgical technique as well as perioperative care have been proposed in order to decrease the risk of relapse. Also, routine contrast radiology on the first or second day following the laparoscopic operation facilitates early diagnosis of relapse of hiatal hernia with emergent reoperation. This may result in decreased morbidity and improved overall outcome of the treatment.