Prenatal Diagnosis of Neu-Laxova Syndrome.

Neu-Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, just eighty-eight cases have been reported. The syndrome is characterized by early and severe growth restriction, and craniofacial anomalies, such as microcephaly, hypertelorism and other malformations, resulting in quite characteristic features. Additionally, it might appear as generalized edema, flexion contractures and other malformations of the extremities, abnormalities in the CNS (central nervous system), skin (severe ichthyosis), and genitourinary and cardiac abnormalities. We present the case of a patient who had her first pregnancy with a fetus with Neu-Laxova syndrome diagnosed in our center during the second-trimester ultrasound. The ultrasound findings suggested the diagnosis, which was confirmed with a genetic study of the amniotic fluid: the variant of the PSAT1 gene, associated with NLS (Neu-Laxova syndrome) 2 in homozygosis. Moreover, there was a second pregnancy with a fetus carrying the same mutation in heterozygosis. In addition, we have carried out a review of published literature about this disease up to the present time.

Fournier's Gangrene under Sodium-Glucose Cotransporter-2 Inhibitors Therapy in Gynecological Patients.

Fournier's gangrene (FG) is a serious pathology of the soft tissues and fascia of the perineum and genital region with a high morbidity and mortality rate. In recent years, the SGLT-2 inhibitor oral antidiabetic has been related to this entity. According to the new warnings from the main drug agencies, a compilation of cases has been initiated to establish or deny a possible causal relationship. Most of these cases have been reported in men. However, it is important not to underestimate this entity in the gynecological field, since it is extremely serious and requires intense and rapid aggressive treatment based on surgery and empiric antibiotherapy. Later, some cares are needed to involve surgical reconstruction of the defects introduced by debridement. As a result of the low incidence of FG, clinical trials' data may be insufficient to robustly assess this issue because of the limited numbers of participants. Real-world evidence may help to clarify the association between SGLT2i and FG. The aim of this review is to describe and compare the reported cases of GF in diabetic women who received SGLT2 inhibitors as antiglycemic agents.

Advanced Ovarian Cancer during Pregnancy. Tumour Evolution Analysis and Treatment Approach.

BACKGROUND: The possible presence of malignant adnexal mass should be considered during pregnancy. For this reason, it is important to keep in mind such possibility while performing routine obstetric ultrasounds to diagnose asymptomatic ovarian cancer in the early stages. CASE PRESENTATION: 27-year-old pregnant patient with a known adnexal tumour occurring at week 20 and enlarged supraclavicular lymph nodes of 3 cm size who was diagnosed with metastases from low-grade papillary serous ovarian carcinoma. The patient, obstetricians, neonatologists and oncologists agreed on initiating neoadjuvant chemotherapy and performing an elective C-section at week 34. She gave birth to a female infant weighing 2040 g who is currently in good health, and continues receiving follow-up care by a medical oncologist. CONCLUSIONS: An early diagnosis of gynaecologic malignancies during pregnancy is of critical importance because, although they are very rare, managing and treating carcinomas at an early stage allow us to increase maternal and fetal well-being and to offer more alternatives to our patients.