Left-sided congenital heart lesions in mosaic Turner syndrome.

In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X[8]/46,X,idic(Y)(pter→q11.2::q11.2→pter)[42]. This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-ß-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.

Spontaneous bladder rupture after non-traumatic vaginal delivery: a rare case report.

Spontaneous bladder rupture (SBR) is a rare condition and often missed diagnosis, especially after a non traumatic vaginal delivery. A 32-year-old para 3 woman, consulted for abdominal pain and anuria two days after instrumental vaginal delivery with forceps for foetal distress in second sate of labour. Blood tests were suggestive of an acute renal failure. An abdominocentesis revealed a clear fluid looking like ascites. The ultrasound and computed tomography (CT) scan showed a large abdominal effusion. An exploratory laparoscopy revealed a bladder perforation which was sutured after laparotomy. SRB is extremely rare after a non traumatic vaginal delivery. It is associated with significant morbidity and mortality. Symptoms are mostly non-specific. It is suspected when post partum abdominal pain is associated with an effusion and renal failure signs. If suspected, the uroscanner remains the gold standard for diagnostic. Laparotomy is the standard surgical approach in this condition. Abdominal pain with elevated serum creatinine should be suspicious of SBR in post-partum.

Hyperreactio luteinalis incidentally found in the second trimester of pregnancy with normal hCG levels: a case report.

Hyperreactio luteinalis (HL) is a rare entity in which both ovaries are multicystic and enlarged under the action of human chorionic gonadotropin (hCG), mostly seen in the third trimester of pregnancy. This benign condition is usually asymptomatic and doesn't need any specific treatment, as the ovaries spontaneously reduce in size after birth. This is a case report of a 33-year-old woman diagnosed with hyperreactio luteinalis during the second trimester of her induced pregnancy. An ultrasound scan at 22 weeks of gestation revealed bilateral multicystic enlarged ovaries along with multiple fetal malformations and hydropsfetalis. Usually, HL is most commonly seen in situations in which there are high levels of hCG, but our patient had normal levels of hCG during all her pregnancy, which makes our case even rarer. In conclusion, the most important challenge when faced with HL is to differentiate between it and other differential diagnosis especially malignant tumors, because unlike them, this benign condition doesn't need surgical treatment.

Bilateral atrophic squirrhus of breast in neglected breast cancer: case report.

The atrophic squirrhus carcinoma is an advanced form of breast cancer, which is most often neglected by patients. These days it has become very rare. The bilaterality of this form is even more exceptional. We present a case of atrophic squirrhus breast cancer of a 58 years old woman, rural origin, which is particular for its bilaterality and rapid evolution causing the death after 22 months from the first abnormal functional sign.

Meckel's diverticulum: an exceptional cause of vesicoenteric fistula: case report and literature review.

UNLABELLED: Meckel's diverticulum is the most common congenital malformation of the gastrointestinal tract. It can cause complications in the form of ulceration, hemorrhage, intussusception, intestinal obstruction, perforation and, very rarely, vesicodiverticular fistulae as noted in six previously reported cases. 66-year-old woman was presented with an enterovesical fistula. Exploratory laparotomy revealed a vesico-diverticular fistula resulting from a perforated Meckel's diverticulum. Pathologic examination revealed that the diverticulum did not contain ectopic gastric or pancreatic tissue. The patient underwent a diverticulectomy and had an uneventful postoperative course. Unlike four of the six previously reported cases, our patient had no coexisting bowel or bladder disease occurring with her vesico-diverticular fistula. CONCLUSION: This is only the third reported case of a vesico-diverticular fistula resulting from a perforated Meckel's diverticulum that did not contain ectopic tissue.

Antenatal macrosomia prediction using sonographic fetal abdominal circumference in South Tunisia.

INTRODUCTION: Identifying newborns who weight 4000 g or more is important because birth of macrosomic fetuses is associated with adverse peripartum outcomes. Ultrasound is widely used for this purpose Our objective was to evaluate the diagnostic value of sonographic measurement of fetal abdominal circumference (AC) over 350 mm for the prediction of fetal macrosomia and shoulder dystocia, to specify factors that could generate errors in its measure. METHODS: A retrospective clinical trial was conducted at the Department of Obstetrics and Gynecology, Hédi Chaker Hospital, Sfax, Tunisia. The study consisted of comparing two groups of singleton newborns: the first group (n=465) includes macrosomic babies and the second group (n=465) includes the non macrosomic ones. All women underwent sonographic measurements of the fetal abdominal circumference (AC) within 72 hours before delivery. The AC values were correlated to actual fetal birth weight. The cut-off value of AC for predicting of fetal macrosomia was analyzed. RESULTS: A cut-off value of abdominal circumference ≥ 350 mm, in predicting of fetal macrosomia., had a sensitivity, specificity, accuracy, positive predictive value, and negative predictive value: 78.7%, 76.8%, 77%, 92.6%, and 49.2%, respectively. In macrosomic group obesity was significantly more frequent when AC ≥ 350 mm. CONCLUSION: The fetal AC measurement was useful in predicting of fetal macrosomia. An AC measurement AC ≥ 350 mm could help to suspect shoulder dystocia.

Huge desmoid tumor of the anterior abdominal wall mimicking an intraabdominal mass in a postpartum woman: a case report.

Desmoid tumors are benign neoplasms that most often arise from muscle aponeurosis and have been associated with both trauma and pregnancy. The etiology of desmoids has not been determined. We report the case of anterior abdominal wall desmoid tumor in a female patient with previous history of cesarean section. Preoperative ultrasound and computed tomography demonstrated a large mass mimicking a large hematoma or an intraabdominal mass. The tumor was removed by wide excision with safe margins. The abdominal wall defect was reconstructed with polypropylene mesh. Subsequent histology revealed a desmoid tumor. Desmoid tumors in females are often associated with pregnancy or occur post-partum. The reasons behind this association are unclear. The most common sites are in the abdominal muscles.