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.
Pediatric Surgery Unit, Department of Women's and Child's Health, University Hospital of Padova, Padova, Italy.
Ital J Pediatr. 2022 Oct 22;48(1):182. doi: 10.1186/s13052-022-01367-7.
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.
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.
This case opens new perspective in this rare syndrome and a review approach to isolated tubal torsion. These symptoms should be always well checked.
昊-喷泉综合征是一种神经发育障碍，其特征是全面发育迟缓，智力发育受损程度不同，伴有明显的言语延迟，在一些男性患者中，已报道与性腺功能减退有关。目前文献中报道的病例少于 50 例。
我们报告了一例年轻女性患有孤立性输卵管扭转的这种罕见综合征；我们的患者有不同的住院经历但未接受治疗，但在上次发作中，我们决定进行腹部手术探查。这是文献中首例 USP7 基因突变的病例。
本病例为这种罕见综合征提供了新的视角，并对孤立性输卵管扭转进行了综述。这些症状应始终得到充分检查。
