Spontaneous gastric rupture in a 22-month-old boy: Case report and review of the literature: The diagnostic work up and management of a rare pediatric emergency

AbstractWe report the case of 22-month-old boy who sustained spontaneous gastric rupture. The patient had an episode of nausea and vomiting after a large meal the day before admission to our emergency ward. Abdominal ultrasonography revealed free and corpuscolate fluid in the abdomen. Abdominal X-ray showed free air in the abdominal cavity, leading to diagnosis of gastrointestinal perforation. Blood examination revealed metabolic acidosis. An emergency laparotomy detected a wide perforation of gastric wall involving fundus and greater curvature. A sleeve gastrectomy was performed with two layers closure of abdominal wall. Idiopathic gastric rupture, beyond neonatal period, is extremely rare in childhood. Early diagnosis and surgery are mandatory to avoid fatal complications

Response to Snodgrass and Bush

We sincerely appreciate the comments made by Warren Snodgrass and Nicol Bush regarding our paper. First of all, we need to clarify that of our population of 130 patients only 66 have already reached pubertal development (55 in the preputial flap group and 11 in the staged repair). The aim of the published paper, as already clearly stated in our discussion, was limited to a retrospective analysis of the potential risk of development of megalourethra and fistula in this population. We fully agree that there is indeed a potential large amount of very important data retained in these series which may help to better understand some of the still unresolved questions on long-term outcome of hypospadias repair. Unfortunately we will need a few more years of follow-up before we will be able to fulfill these requests. Regarding the multiple questions mentioned we will try to provide some specific answers

Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions

Deletions of the short arm of chromosome 9 are associated with two distinct clinical entities. Small telomeric 9p24.3 deletions cause genital anomalies in male subjects, ranging from disorder of gonadal sex to genital differentiation anomalies, while large terminal or interstitial deletions result in 9p-malformation syndrome phenotype. The critical region for non-syndromic 46,XY sex reversal was assigned to a 1 Mb interval of chromosome 9p, extending from the telomere to the DMRT genes cluster. The 9p-syndrome was assigned to bands 9p22.3p24.1, but a phenotypic map has not been established for this condition, probably because of the lack of detailed molecular and/or phenotypic characterization, as well as frequent involvement of additional chromosome rearrangements. Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array-CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p-syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy. The observed deletion includes the 46,XY sex-reversal critical region, excluding the region so far associated with the 9p-syndrome. Genotype-phenotype correlations are tentatively established comparing our patient to seven other previously reported males with isolated terminal 9p deletions, finely defined at a molecular level. Our observations expand the 9p deletion clinical spectrum, and add significantly to the definition of a 9p-syndrome critical region