Case Reports in Perinatal Medicine最新文献

Objectives: Intrauterine testicular torsion is extremely rare and the exact cause remains largely unknown. It is the result of an ischemic insult intrauterine, which presents as either extra-vaginal or intravaginal testicular torsion. Urgent surgical exploration and fixating the contralateral testis is key in the management of this condition.

Case presentation: We present here the case of a two-day old neonate with in-born right scrotal swelling admitted at Children's hospital. The patient was born at term via cesarean section at a private hospital. Upon arrival in the emergency department, he was well hydrated, pink at room temperature with good perfusion. Upon examination, the right testis was found to be enlarged, tense, non-tender visibly reddish with overlying skin excoriation. Trans-illumination was negative in right but positive in the contralateral testis. Both hernial orifices were normal. Doppler ultrasound of the inguinoscrotal area found the right testis to be enlarged (15.6*9.4 mm) and showed heterogeneous hypoechoic texture with prominent rete testis and no flow on color doppler analysis. An urgent scrotal exploration was undertaken. Intra-operatively there was frank necrotic right testis with intravaginal torsion of the testis and minimal hydrocele. A right orchidectomy and contralateral orchidopexy were performed.

Conclusions: Intrauterine testicular torsion should be treated as a surgical emergency. We advocate early recognition of intrauterine testicular torsion, alongside surgical exploration and simultaneous contralateral orchidopexy.

Objectives: Pregnancy associated atypical hemolytic uremic syndrome (p-aHUS) is a rare condition of thrombotic microangiopathy (TMA) which causes an increase of fetal and maternal morbidity and mortality. It presents typically with a triad of microangiopathic hemolytic anemia (MAHA), thrombocytopenia and acute progressive renal failure. Differential diagnoses of HELLP (Hemolysis, Elevated Liver enzymes, and Low Platelets) syndrome, preeclampsia, thrombotic thrombocytopenic purpura (TTP), and disseminated intravascular coagulation (DIC) syndrome must be considered. In the following case report, presented is a 32-year-old, 38 weeks pregnant Caucasian woman admitted to Eberswalde Hospital with signs of preeclampsia and HELLP Syndrome. Caesarean Section was performed due to HELLP syndrome and fetal distress. Acute renal failure occurs shortly after a successful delivery. After a diagnosis of p-aHUS is established, the patient was given Eculizumab, which yielded significant improvements.

Case presentation: A 32-year-old, 38 week pregnant Caucasian woman was admitted to Eberswalde Hospital with upper right abdominal pain. After a laboratory examination, a diagnosis of HELLP syndrome was established and a Caesarean Section was performed. The follow-up examination revealed deterioration of clinical signs with the patient experiencing dyspnea, oliguria, and oedema, as well as aggravation of laboratory values, ranging from severe thrombocytopenia, hemolytic anemia, liver injury, and acute kidney injury. After excluding other possible causes of TMA, a diagnosis of p-aHUS was established and a treatment with Eculizumab was administered. Clinical and laboratory signs of hemolysis and kidney functions were found to improve gradually after two administrations of Eculizumab. The patient was discharged after 20 days of hospitalization with significantly improved condition and hematological values.

Conclusions: A successful treatment of p-aHUS requires a comprehensive assessment and a prompt diagnosis, which can be confounded by multiple similar differential diagnoses. Treatment with Eculizumab was found to significantly improve the outcome of the patient, but more studies are required to decide on a standardized regiment for p-aHUS.

Objectives: Although placental chorangiomas are often asymptomatic, larger tumors (>4-5 cm) can cause various perinatal complications, including polyhydramnios, preterm birth, fetal anemia, fetal hydrops, and intrauterine fetal death. Symptomatic placental chorangiomas are often diagnosed prenatally on ultrasonography as a mass on the fetal side of the placenta.

Case presentation: A 37-year-old pregnant woman underwent emergency cesarean delivery at 34 weeks' gestation due to rapidly progressive fetal hydrops leading to fetal dysfunction, resulting in neonatal death. Placental pathology indicated multiple placental giant chorangiomas that occupied 40% of the placenta. Because of the disk shape of the placenta, prenatal diagnosis by ultrasonography was difficult.

Conclusions: Some placental chorangiomas are difficult to diagnose and lead to fetal hydrops and poor prognosis, even if ultrasonography does not show an obvious mass in the placenta.

Objectives: Neuroblastoma (NB) is one of the most common tumor during perinatal period. The clinical features of NB occurring in fetuses and neonates differ from that in the older age groups. Frequently, Congenital neuroblastomas are incidentally detected prenatally. Clinical presentations of NBs in neonates are highy variable.

Case presentation: A 24-day old preterm 32 weeks' gestation male neonate developed cholestasis that lead to the diagnosis of stage MS neuroblastoma. There was no NB primary site identified.

Conclusions: To the best of our knowledge, this is the first case report of metastatic NB (Stage MS) in a preterm neonate presenting with cholestsis but without any identifiable adrenal or extra-adrenal primary.

Objectives: Gitelman syndrome is a rare salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene, which is expressed in the distal convoluted tubule and accounts for 5-10% of renal sodium reabsorption. Atypical symptoms and insidious conditions generally delay diagnosis until childhood or even adulthood. Here, we report the case of a 22-year-old Chinese woman who was admitted to our endocrinology department for severe hypokalemia during pregnancy.

Case presentation: The patient had no specific symptoms but exhibited hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, hyperreninemia, hyperaldosteronism, and normal blood pressure. Together, these symptoms indicated the clinical diagnosis of Gitelman syndrome, which was confirmed by genetic analysis. Many drugs have limited safety data during early pregnancy, and optimum potassium and magnesium levels are necessary for a successful pregnancy.

Conclusions: Diagnosis and management of Gitelman syndrome are crucial during pregnancy to ensure the safety of the mother and fetus, especially during the first trimester.

Objectives: Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis and Franceschetti-Zwahlen- Klein syndrome, is an autosomal dominant disorder of soft tissue and the craniofacial bones. In most cases, TCS is the result of a mutation in the TCOF1 gene. The incidence is estimated to be between 1/10,000 and 1/50,000 live births. Our purpose was to describe a case report of patient with TCS born in the Department of Neonatology at the Pomeranian Medical University in Szczecin (Poland) and his family with short review of literature.

Case presentation: Clinical abnormalities which were found after birth mainly affect the head - hypoplasia of the cheek bones and the zygomatic bones, micrognation, deformed auricles with undeveloped external auditory canals, retrognathia of the mandible, cleft hard and soft palate and narrow palpebral fissure.

Conclusions: The treatment of children with TCS is long-term. Patients require a series of reconstructive and plastic surgical procedures. Our patient presented the complete form of TCS. There are multiple surgeries awaiting him, which, eventually, will improve his quality of life.

Objectives: Uterine artery pseudoaneurysm (UAP) is a rare but sinister complication during pregnancy. Diagnosis can be made by color Doppler ultrasound. Previous abdominal- and obstetric surgery increase the risk for UAP formation.

Case presentation: We present a case of a 36 year young healthy women, presenting at 27 weeks of gestation with acute lower abdominal pain. UAP was detected by color Doppler ultrasound. An endovascular coil embolization was performed, with good maternal and fetal outcome. Furthermore, a review of the literature looking at UAP embolization in pregnancy was performed.

Conclusions: UAP is reported to appear as a complication of endometriosis. UAP should be treated by endovascular coil embolization, which is a safe and with almost 100% success rate an effective treatment during pregnancy.

Objectives: Chagas disease (CD) is caused by infection with the protozoan Trypanosoma cruzi, a parasite that nests in various tissues, causing irreversible cardiac damage in 30% of patients with chronic disease and neurological or digestive lesions in 10%. CD is now found in areas receiving migrant populations where no vector-borne transmission occurs. Chagasic cardiomyopathy (CC) is the most serious complication of the chronic phase of CD and the major cause of morbidity and mortality among patients with CD.

Case presentation: Bolivian woman at 38 weeks of gestation was admitted at the emergency room with the diagnosis of congestive heart failure. Cesarean section was performed and maternal hypotension and uterine atony occurred. Dilated myocardiopathy with severe left ventricle dysfunction was diagnosed. The patient referred positive serology for T. cruzi and polymerase chain reaction (PCR) was positive so benznidazole therapy was started. She was discharged due to progressive improvement with cardiological treatment and implantable cardioverter defibrillator was placed 5 years later for the prevention of sudden cardiac death.

Conclusions: The diagnosis of CC in non-endemic areas requires a high index of suspicion and it is based on serology. Antiparasitic drugs are almost 100% effective in infected newborn babies and highly effective in the treatment of patients in the acute stage of the disease. However, the efficacy of both drugs decreases the longer a person has been infected. Treatment of CC that causes chronic heart failure is similar to that in non-Chagasic etiology.

Objectives: The occurrence of a uterocutaneous fistula (UCF) as an uncommon and severe complication of caesarean section (CS). The aim of this study was to describe two cases of UCFs after CS and to discuss about symptoms, diagnosis and treatment.

Case presentation: Both women few days after CS had surgical site infection, fever and elevation of lab inflammation markers. bacterial culture of the wound drainage was positive for Escherichia Coli and Enterococcus Faecalis.

Conclusions: Fistula between uterine and skin is a rare condition but should be considered with signs of inflammation after cesarean section; 2D/3D ultrasound evaluation appears to be useful for diagnosis of UCFs when combined with CT fistulography and MRI in order to obtain early diagnosis and, consequently, a conservative surgery.

Objectives: To describe the integration of point-of-care ultrasound (POCUS) and rotational thromboelastometry (ROTEM) in the diagnosis and management of cardiac arrest secondary to amniotic fluid embolism (AFE).

Case presentation: A 29-year-old female presented for induction of labor at 39 weeks. Labor was complicated by hemorrhage and subsequent sinus tachycardia pulseless electrical activity (PEA) arrest. Intra-arrest POCUS demonstrated right ventricular dilation and hypokinesis adding to a presumed hemorrhagic arrest etiology. Venoarterial extracorporeal membrane oxygenation (VA-ECMO) was initiated at the bedside following the POCUS findings. ROTEM further clarified the etiology of hemorrhage as disseminated intravascular coagulation (DIC), and in combination with the POCUS findings led to a final diagnosis of amniotic fluid embolism with DIC. The patient was maintained on VA-ECMO without heparin in the setting of DIC. She had a complicated hospital course but was discharged home with her healthy child and no residual physical or neurologic deficits.

Conclusions: In the absence of more specific testing modalities the utilization of rapidly available POCUS in conjunction with ROTEM can impact clinical decision making of cardiovascular resuscitation in patients during labor and delivery by narrowing the differential between pulmonary embolism and AFE.