Nicola Zampieri1, Rebecca Pulvirenti2, Eleonora Pedrazzoli3, Francesco Saverio Camoglio4. 1. Pediatric Surgery Unit, Woman and Child Hospital, Azienda Ospedaliera Universitaria Integrata, Department of Surgery, Dentistry, Pediatrics and Gynaecology, Pediatric Fertility Lab, University of Verona, Piazzale A. Stefani n.1, 37134, Verona, Italy. dr.zampieri@libero.it. 2. Pediatric Surgery Unit, Department of Women's and Child's Health, University Hospital of Padova, Padova, Italy. 3. Department of Surgery, Dentistry, Pediatrics and Gynaecology, Anesthesia and Intensive Care Unit, University of Verona, Verona, Italy. 4. Pediatric Surgery Unit, Woman and Child Hospital, Azienda Ospedaliera Universitaria Integrata, Department of Surgery, Dentistry, Pediatrics and Gynaecology, Pediatric Fertility Lab, University of Verona, Piazzale A. Stefani n.1, 37134, Verona, Italy.
Abstract
BACKGROUND: Hao-Fountain syndrome is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay and, in some males patients, it has been reported an association with hypogonadism. At present less than 50 cases are reported in literature. CASE PRESENTATION: We report a case of this rare syndrome in a young female with isolated tubal torsion; our patients had different hospitalizations without treatment but during the last episode we decide to perform an abdominal surgical explortion. This is the first case in Literature with a new USP7 mutation. CONCLUSIONS: This case opens new perspective in this rare syndrome and a review approach to isolated tubal torsion. These symptoms should be always well checked.
BACKGROUND: Hao-Fountain syndrome is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay and, in some males patients, it has been reported an association with hypogonadism. At present less than 50 cases are reported in literature. CASE PRESENTATION: We report a case of this rare syndrome in a young female with isolated tubal torsion; our patients had different hospitalizations without treatment but during the last episode we decide to perform an abdominal surgical explortion. This is the first case in Literature with a new USP7 mutation. CONCLUSIONS: This case opens new perspective in this rare syndrome and a review approach to isolated tubal torsion. These symptoms should be always well checked.