Herniation of the uterus, ovaries and fallopian tubes into the canal of Nuck in a 4-month-old child: A rare entity.

Partial or complete failure of obliteration of the processus vaginalis in the female results in the formation of a potential space known as the canal of Nuck, into which various organs and/or collections can herniate. A 4-month-old female presented with a left labial mass related to herniation of the uterus, ovaries and fallopian tubes through the canal of Nuck. Early diagnosis is important as there is a high risk of ovarian torsion and incarceration.

Novel RNASEH2C mutation in multiple members of a large family: insights into phenotypic spectrum of Aicardi-Goutières Syndrome.

Background: Aicardi-Goutières syndrome (AGS) is a genetic inflammatory disorder that presents with early infantile encephalopathy. We report the clinical and molecular details of multiple members of a family with AGS secondary to a novel RNASEH2C mutation, highlighting the evolution of phenotypic abnormalities in AGS.

Methods: Between February 2018 and June 2019, a pedigree tree was constructed for 141 members of a family.