An uncommon case of an infected ovarian endometrioma.

INTRODUCTION AND IMPORTANCE: Ovarian endometriosis is common, most often associated with other endometriotic lesions of the pelvis. Among the classic complications of endometriosis, secondary infection is described but rare. We report a very interesting case of an endometrioma cyst mimicking a tubo ovarian abscess. We describe our diagnosis and surgical management by laparoscopic approach. CASE PRESENTATION: A case of a 32-year-old patient, with a history of surgery for ovarian and deep peritoneal endometriosis, who consulted urgently for pelvic pain syndrome in a febrile context. Emergency laparoscopic surgery showed secondary infection of the endometriosic cyst with the presence of pus. A right adnexectomy was performed. The postoperative follow-up was simple. DISCUSSION: Secondary infection of endometriomas is a classically described but rare complication. Severe endometriosis would be a risk factor for developing a tubo-ovarian abscess with an incidence of 2.3 % in patients with endometrioma. Laparoscopic endometrioma surgery has demonstrated its superiority beyond question, numerous trials have confirmed these data. The benefit is established in terms of pain, infectious risk, scarring, wall complications, adhesion risk, length of hospitalization, return to normal activity, thromboembolic risk and cost. CONCLUSION: Infection of an endometriosic cyst is an exceptional complication. It is necessary to emphasize the particularities of this surgery, namely careful dissection to avoid secondary lesions, particularly digestive.

Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.

Worldwide variation in the distribution of BRCA mutations is well recognised, and for the Moroccan population no comprehensive studies about BRCA mutation spectra or frequencies have been published. We therefore performed mutation analysis of the BRCA1 gene in 121 Moroccan women diagnosed with breast cancer. All cases completed epidemiology and family history questionnaires and provided a DNA sample for BRCA testing. Mutation analysis was performed by direct DNA sequencing of all coding exons and flanking intron sequences of the BRCA1 gene. 31.6 % (6/19) of familial cases and 1 % (1/102) of early-onset sporadic (< 45 years)were found to be associated with BRCA1 mutations. The pathogenic mutations included two frame-shift mutations (c.798_799delTT, c.1016dupA), one missense mutation (c.5095C>T),and one nonsense mutation (c.4942A>T). The c.798_799delTT mutation was also observed in Algerian and Tunisian BC families, suggesting the first non-Jewish founder mutation to be described in Northern Africa. In addition, ten different unclassified variants were detected in BRCA1, none of which were predicted to affect splicing. Most unclassified variants were placed in Align-GVGD classes suggesting neutrality. c.5117G>C involves a highly conserved amino acid suggestive of interfering with function (Align-GVGD class C55), but has been observed in conjunction with a deleterious mutation in a Tunisian family. These findings reflect the genetic heterogeneity of the Moroccan population and are relevant to genetic counselling and clinical management. The role of BRCA2 in BC is also under study.

[Peripartum cardiomyopathy]. / Cardiomyopathie du péripartum.

Peripartum cardiomyopathy (PP-CMP) or Meadows' syndrom, is a dilated cardiomyopathy which occurs during or following pregnancy. It is characterized by heart failure with a systolic left ventricle ejection fraction of less than 45%. It is rare and its pathophysiologic mechanism is poorly elucidated. From a clinical point of view, it is characterized by unespected heart failure with rapid onset of symptoms, unpredictable evolution and risk of refractory cardiogenic shock, justifying patient's management in Cardiovascular Unit. PP-CMP requires no specific treatment compared to other causes of heart failure. We here report the case of a 29-year old primip at 32 weeks of amenorrhea presenting with congestive heart failure associated with peripartum cardiomyopathy. The aim of this study was to highlight the features of this heart disease which, despite its rarity, should not be disregarded by obstetricians.

[Struma ovarii: a rare case of giant ovarian cyst]. / Struma ovarii: un cas rare de kyste ovarien géant.

Struma ovarii is a rare tumor, which accounts for 2.7% of ovarian teratomas and 0.01% of ovarian tumors. It usually affects women in the fifth decades of life and is most often detected incidentally during ultrasound and then confirmed histologically. The gold standard treatment is surgery and prognosis is excellent. We here report the particular case of a young female patient with giant struma ovarii whose radiological features were classified as unusual presentation. We match patient's data with those from the literature.

[Idiopathic intracranial hypertension: a rare case related to pregnancy]. / Hypertension intracrânienne idiopathique: à propos d'un cas rare associé à la grossesse.

We report the case of a 25-year old primipara whose pregnancy was complicated by idiopathic intracranial hypertension (ICHT) associated with visual impairment in the first quarter. She underwent lumboperitoneal shunt without obstetric consequences. This study aimed to determine the features of this rare pathological entity whose pathophysiological mechanism is poorly elucidated. It would be caused by poor absorption of cerebrospinal fluid (CSF) through the arachnoid granulations. Major risk factors are: obesity, polycystic ovary syndrome, thrombophilia and hyperfibrinolyse. Diagnosis is based on modified Dandy criteria after negative clinico-biological and radiological assessment. Visual prognosis is compromised, as in the case of « classical ¼ ICHT. However, there is no risk for cerebral involvements which could be life-threatening. In addition, this disease does not influence pregnancy outcome. This said, rapid and effective treatment should be implemented in order to preserve visual function in these patients.

Villoglandular papillary adenocarcinoma: case report.

Villoglandular papillary adenocarcinoma (VPA) is a very rare subtype of adenocarcinoma of the uterine cervix, but a well-recognized variant of cervical adenocarcinoma with a favorable prognosis and generally occurring in women of child-bearing age. Herein, we report a case of VPA diagnosed and managed successfully with conservative measure. This management is particularly desirable in young women to preserve reproductive capability.

Paraneoplastic syndromes revealing ovarian teratoma in young and menopausal women: report of two cases.

Paraneoplastic syndromes are a heterogeneous group of clinical and biological manifestations caused by underling neoplasms. They can reveal ovarian teratoma which express neuroendocrine proteins, or contain mature or immature neural tissue inducing an autoimmune response. The etiological investigation is then crucial to early identification of the tumor in order to optimize the prognosis and to limit neurological sequelae. In case of ovarian teratoma, management is essentially based on surgical resection sometimes associated with immunotherapie. We report two new cases of ovarian teratoma revealed by paraneoplastic syndromes in young and menopausal woman.

Complete androgen insensitivity syndrome with a Sertoli-Leydig cell tumor.

BACKGROUND: The complete androgen insensitivity (testicular feminization) syndrome was described in phenotypic females with 46XY karyotype, presenting with primary amenorrhea, adequate breast development, and absent or sparse pubic or axillary hair. Gonads consist usually of seminiferous tubules without spermatogenesis. CASE: We report the case of a 15-year-old girl with testicular feminization since age 4. She was admitted to surgically remove the testes from the inguinal canal. Microscopic examination of the left testis revealed a Sertoli-Leydig cell tumor and the draft of fallopian tube with adjacent seminiferous tubules. SUMMARY AND CONCLUSION: These patients have a 5%-10% risk of developing germ cell tumors. Sertoli-Leydig cell tumors are uncommon neoplasms, usually benign in testicular feminization syndrome.

Intraperitoneal solitary fibrous tumor.

Solitary fibrous tumors of the pelvis are rare. We report the case of a 32-years-old patient who presented with abdominopelvic mass. The imaging studies showed a right adnexal mass of more than 10 cm. Exploratory laparotomy revealed a 20 cm mass at the Douglas pouch which was adhered to the posterior wall of the uterus. Complete resection of the mass was performed. Histological analysis showed a spindle cell undifferentiated tumor whose morphological and immunohistochemical profile are consistent with solitary fibrous tumor. It is important to know that although these tumors are rare, their evolution can be pejorative. Therefore, long-term followup should be recommended.

The single nucleotide polymorphism +936 C/T VEGF is associated with human epidermal growth factor receptor 2 expression in Moroccan breast cancer women.

The vascular endothelial growth factor (VEGF), a potent regulator of angiogenesis, is involved in the development and progression of breast cancer (BC). The functional +936 C/T polymorphism of the VEGF-A gene has been implicated in BC susceptibility; however, published data are conflicting. In the current case-control study, we analyzed the association of the +936 C/T polymorphism with BC risk and tumor markers expression, human epidermal growth factor receptor 2 (HER2/neu) and caner antigen 15.3 (CA 15.3) in Moroccan women. We genotyped the DNA of 70 BC patients and 70 healthy women by TaqMan SNP assays. The χ(2) test and Fisher's exact test were used for statistical analyses. The overall results revealed that there is no association between the +936 C/T polymorphism and BC risk [p = 0.8; OR 0.87, 95 % CI (0.32-2.42)]. However, when we stratified the group of patients according to the status of tumor markers, a statistical significant association of +936 C/T SNP and HER2/neu expression was observed (p = 0.009). In contrast, no association with the other tumor marker, CA 15.3, was found (p = 0.090). Thus, the +936 C/T polymorphism seems to have a correlation with HER/neu expression in BC disease.

Investigating the association of vascular endothelial growth factor polymorphisms with breast cancer: a Moroccan case-control study.

The main mediator of breast cancer (BC) angiogenesis is the vascular endothelial growth factor (VEGF). Variation of VEGF-A gene may influence the BC susceptibility. The present case-control study investigated the association of the four commonly studied single nucleotide polymorphisms (SNP) of VEGF-A, namely: -1154A/G (rs1570360), -2578C/A (rs699947), -634G/C (rs2010963) and -460T/C (rs833061) with BC susceptibility and aggressiveness in Moroccan women. After genomic DNA extraction, genotyping was performed by TaqMan SNP assays on 70 BC patients and 70 healthy women. The χ2 test was used to detect differences in the genotype frequencies of VEGF between the groups and to stratify genotypes by the clinico-pathological characteristics in patient's group. Women carriers of -1154AG + AA and -2578AC + AA VEGF genotypes had a reduced risk to develop BC [p = 0.018, OR 2.25 95 % CI (1.14-4.42) and p = 0.022, OR 2.26 95 % CI (1.12-4.58), respectively]. Carriers of -460CT and CT + CC genotypes had also a reduced risk to develop BC [p = 0.045, OR 2.63 95 % CI (1.19-5.84) and p = 0.043, OR 2.12 95 % CI (1.01-4.43), respectively]. Moreover, the A-1154A-2578G-634C-460 haplotype seems to have a protective effect against BC risk [p = 0.007, OR 2.41 95 % CI (1.27-4.55)]. Stratification for BC patients according to clinico-pathological characteristics reveals no association with any of VEGF-A SNPs. In conclusion, the data indicated significant associations of VEGF -1154A/G, -2578C/A and -460T/C polymorphisms with BC susceptibility in Moroccan individuals. These VEGF-A polymorphisms can be useful as predisposing genetic markers for BC. Further larger-scale studies are necessary to confirm our finding.