Case Reports in Perinatal Medicine最新文献

Objectives: Intracranial hemorrhages are common events in premature infants but in fetal life those incidents are often of ominous prognosis and unknown etiology.

Case presentation: We present the diagnosis, evolution and management of a fetal hemorrhagic accident associated with an inherited maternal microdeletion of the chromosome 16 short arm. Abnormal neurosonography in routine second trimester ultrasound led to follow up. Fetal germinal matrix hemorrhage along with severe asymmetric ventriculomegaly and a secondary periventricular cyst developed in the early third trimester. Array CGH showed microdeletion 16p11.2.

Conclusions: This microdeletion had not been previously associated with fetal intracranial hemorrhage.

Objectives: To describe a rare case of methemoglobinemia in a newborn baby with excellent prognosis. Methemoglobinemia in the neonatal period is very rare and when present is usually caused by environmental toxicity from strong oxidizing agents and rarely due to enzyme deficiency or inherited disorders of hemoglobin metabolism.

Case presentation: We report a newborn baby presented with cyanosis and desaturation right from birth, later found to have methemoglobinemia and started medication. Genetic evaluation revealed a mutation in the gamma chain of fetal haemoglobin (HbF) causing abnormal hemoglobin. Physiologically significant mutations in gamma-globin genes cause symptoms in the fetus and neonate that gradually abate in the first few months of life.

Conclusions: Genetic evaluation is advisable in babies with unexplained methemoglobinemia as the prognosis of the condition depends on the underlying mutation. Early diagnosis of methemoglobinemia due to gamma chain mutation in HbF as in our case helps in reassuring the parents and also in preventing unnecessary aggressive investigations.

Objectives: Bilateral renal agenesis is a rare congenital anomaly that is associated with high neonatal mortality. Bilateral renal agenesis is most often present with anhydramniosis in the mid-trimester.

Case presentation: We report a case of bilateral renal agenesis diagnosed prenatally. We presented the ultrasound and pathology images of this fetus with a new sonographic sign, segmental anterior deviation in the abdominal aorta.

Conclusions: To our knowledge, this is the first reported case of a fetus with a segmental aortic anterior deviation.

Objectives: The objective of this case series is to discuss the various presentations of acute uterine inversion and to discuss how these varied presentations can cause a diagnostic confusion. Differences in acute uterine inversion following a vaginal delivery and a cesarean section are also discussed along with the management of acute uterine inversion, emphasizing the need for a rapid diagnosis and management.

Case presentation: Three such cases of acute uterine inversion - two after vaginal delivery (one second-degree inversion and one third degree inversion) and one during cesarean section have been discussed along with their management.

Conclusions: Uterine inversion is a potentially life-threatening complication which can be prevented by active and careful management of third stage of labor and avoiding cord traction prior to development of the signs of placental separation. Early stages of uterine inversion may be confused with a prolapsed fibroid or a cervical polyp. Prompt management can avert maternal mortality and morbidity.

Objectives: To describe the importance of comprehensive assessment to determine the underlying diagnosis and the role of physiological pulmonary measurements in the management of congenital bilateral eventration of the diaphragm.

Case presentation: A female infant born at 34 weeks gestation required intubation and ventilation at birth. Chest radiographical imaging revealed bilateral density to the bases of both lung fields with raised hemi-diaphragms. Ultrasound imaging showed focal diaphragmatic eventration with bulging of the dome of the liver into the right and left hemithoraces. Assessment of the electrical activity of the diaphragm during a spontaneous breathing trial demonstrated a mean amplitude consistent with that of ventilated infants of the same gestational age with intact diaphragms. Hence she was extubated which was successful. Chest radiographic thoracic area measured post extubation was 1,654 mm², equivalent to that of a term infant with severe congenital diaphragmatic hernia. As the electrical activity of the diaphragm was normal this suggests replacement of the diaphragmatic muscle tissue with fibrous bands was likely to be only partial, and hence why extubation was successful. She had other abnormalities presenting in the neonatal period including dermal melancytosis, central hypotonia, hyperinsulinism and poor feeding. The infant underwent extensive investigation which revealed a KMT2D gene mutation associated with Kabuki syndrome.

Conclusions: Physiological pulmonary measurements may add clinical management in bilateratal diaphragmatic eventration.

Objectives: Fetal macrosomia is a term to describe excessive fetal birth weight. Fetal macrosomia is strongly associated with adverse obstetrical outcome.

Case presentation: We report a rare case of excessive neonatal weight in a medically unsupervised pregnancy and give a literature review on this significant subject. A 38 year-old woman (Gravida 8 Para 7) presented herself at 42 2/7 weeks of gestation at the labor ward. The pregnancy had not been supervised medically. Labor induction was initiated. Due to failure to progress and suspicion of a disproportion of the fetal head and maternal pelvis an urgent caesarean section was performed. A morbidly macrosomic male infant was delivered (birth weight: 6,760 g [>99. percentile], length: 60 cm [>99. percentile]).

Conclusions: The morbidity for infants and women increases with a birth weight exceeding 4,500 g. Gestational diabetes mellitus, a high pre-pregnancy body mass index and excessive gestational weight gain have been independently associated as risk factors. The increase in pregnancies complicated by maternal obesity and gestational diabetes emphasizes the necessity of evidence-based clinical interventions to prevent or reduce these diseases. If prenatal care is not frequented by mothers-to-be there are no options open for obstetricians to detect fetal macrosomia and to intervene.

Objectives: To detect common congenital disorders in Holt-Oram syndrome.

Case presentation: We present a case of a 32 years old primigravida pregnant woman affected by Holt-Oram syndrome referred to our institution for second trimester routine anatomy scan. The ultrasound reported a bilateral aplasia radii, slightly curved ulna and bilateral twisted hand with four digital rays. A significant enlargement of the right atrium without tricuspid regurgitation was also detected. The patient refused the amniocentesis and the postnatal evaluation confirmed the diagnosis of Holt-Oram syndrome.

Conclusions: Holt-Oram syndrome is an autosomal dominant genetic condition. It is characterized by abnormalities in the bones of the upper limb and congenital heart malformation. The mutation can be inherited, but most cases result from a new mutation in patients without family history of the disorder.

Objectives: To present a case of fetal hemothorax after two times of thoracoamniotic shunting (TAS) performed to pleural effusion with hydrops fetalis, resulting in non-reassuring fetal status due to hemothorax.

Case presentation: This is a case of bilateral pleural effusion with hydrops fetalis and polyhydramnios at 32 weeks gestation, in which unilateral fetal TAS was performed twice, resulting in non-reassuring fetal status due to hemothorax. After delivery, the infant was diagnosed with trisomy 21 and transient myeloproliferative disorder (TMD) with disseminated intravascular coagulation and congenital systemic lymphangiopathy.

Conclusions: In conclusion, since TAM case do not always show hemothrax, TAM is not inhibited but technical carefulness should be necessary.

Objectives: Placental abruption occurs when a normally implanted placenta prematurely separates, causing rupture of decidual spiral arteries and retroplacental hemorrhage. Estimates place the incidence of placental abruption somewhere between 0.22% and 1% of all deliveries. Clinical abruption represents a spectrum from mild to the most severe form, in which blood can extravasate into or through the myometrium, the broad ligament, or the peritoneum, causing the uterus and surrounding structures to take on a blue discoloration. This phenomenon is a clinical entity known as Couvelaire uterus, so named because it was first described by French physician Alexandre Couvelaire in the early 20th century as "uteroplacental apoplexy." Its incidence is difficult to estimate because it has classically been diagnosed only by direct intraoperative visualization. Imaging is not usually indicated in this clinical setting, so radiologic correlation with operative findings has not been previously described.

Case presentation: In this report, we discuss the case of a multipara who presented with abdominal pain and vaginal discharge several days after a classical cesarean delivery. Her prolonged and complex clinical course led to evaluation via several radiologic modalities. At first, a focal placenta accreta or retained products of conception were suspected, however these diagnoses did not correlate with the patient's reported intraoperative findings of a clean endometrial cavity or with histopathology that was consistent with massive abruption.

Conclusions: The clinical presentation and features identified on multimodal imaging were ultimately most consistent with the patient's intraoperative diagnosis of Couvelaire uterus.

Objectives: Acute glycogenic hepatopathy (AGH) is a rare complication of poorly controlled diabetes mellitus. This is the first report in the English literature describing accurate diagnosis and management of AGH during pregnancy.

Case presentation: A 46 year-old gravida 4 para 2 presented at 30 weeks gestation with uncontrolled diabetes, ketoacidosis, and severe hypertension. Euglycemia and normotension were achieved within 24 h of admission but serum transaminase levels which had been normal on admission increased to a very high level over several days, and then resolved spontaneously.

Conclusions: AGH may occur during pregnancy and should be considered in the context of chronic poorly controlled overt diabetes, rapid normalization of maternal blood glucose levels following high dose insulin therapy, and unexplained new-onset serum transaminase levels elevation. Accurate diagnosis is important because the correct treatment is conservative management, not delivery.