Case Reports in Perinatal Medicine最新文献

Objectives: Ependymomas are rare glial tumors arising from ependymal cells. Most fetal ependymomas reported in the literature are identified in the third trimester. This report describes prenatal detection of an occipital encephalocele at 14 weeks' gestation with subsequent post-termination histopathological identification of ependymoma.

Case presentation: A woman in her 20s (gravida 2, para 0) underwent routine ultrasonography at 14 weeks' gestation at a tertiary care hospital in India. Imaging showed a large occipital encephalocele with herniated disorganized brain parenchyma and associated fetal anomalies; no antenatal tumor diagnosis was made. After counseling regarding the severe cranial malformation, guarded prognosis, and management options, the parents elected medical termination of pregnancy. The fetus weighed 40 g. Histopathological examination showed monomorphic cells forming perivascular pseudorosettes and ependymal canal-like structures. Glial fibrillary acidic protein highlighted the perivascular processes; epithelial membrane antigen and S-100 were negative. The histomorphological features supported a histology-based diagnosis of ependymoma, CNS WHO grade 2. Molecular studies were not performed; therefore, molecular subgrouping was unavailable.

Conclusions: At 14 weeks' gestation, ultrasonography identified an occipital encephalocele, whereas ependymoma was identified only by post-termination histopathological examination. This case emphasizes early anatomical assessment, balanced parental counseling, and clinicopathological correlation while acknowledging uncertainty regarding the relationship between the encephalocele and the neoplasm.

Objectives: To describe the prenatal imaging findings and genetic diagnosis of molybdenum cofactor deficiency (MoCD) in two consecutive pregnancies, highlighting its variable prenatal presentation and diagnostic challenges.

Case presentation: MoCD is a rare autosomal recessive metabolic disorder associated with severe neurological impairment and usually diagnosed postnatally. We report a consanguineous couple with two consecutive affected pregnancies. In the first, progressive ventriculomegaly and posterior fossa abnormalities were detected in the third trimester, raising suspicion of an underlying metabolic disorder, which was confirmed by genetic testing. In a subsequent monochorionic monoamniotic twin pregnancy, early imaging was unremarkable, but targeted genetic testing confirmed recurrence in both fetuses.

Conclusions: MoCD may present prenatally with progressive central nervous system abnormalities. Combined imaging and molecular testing are essential for diagnosis, particularly in consanguineous couples, enabling timely counseling and reproductive decision-making.

Objectives: Congenital neuroblastoma is one of the most common solid tumors in the perinatal period; however, primary cranial localization with prenatal onset is extremely rare. We present a unique case of cranio-orbito-maxillary congenital neuroblastoma detected during the early second trimester, highlighting its dynamic prenatal evolution, diagnostic challenges, and postnatal clinical course.

Case presentation: A 36-year-old pregnant woman was referred at 15 weeks of gestation with a suspected fetal cranial cyst. Fetal neurosonography revealed a unilocular, avascular cystic lesion near the midline of the left cerebral hemisphere, initially suggestive of an arachnoid cyst. Serial follow-up demonstrated progressive morphological transformation, with the lesion acquiring heterogeneous solid components and extending toward the retroorbital and maxillary regions. Fetal magnetic resonance imaging confirmed a large solid-cystic retroorbital mass with orbital displacement and extension into adjacent structures. The pregnancy was complicated by polyhydramnios in the third trimester. A female infant was delivered at 36 weeks of gestation and exhibited marked postnatal proptosis. Histopathological and immunohistochemical evaluation of a tru-cut biopsy established the diagnosis of grade 4 neuroblastoma. Despite multidisciplinary management and multimodal chemotherapy, the disease progressed with pulmonary metastases, and the infant died at 15 months of age during palliative care.

Conclusions: This case illustrates an exceptionally rare presentation of congenital neuroblastoma originating as a prenatal cranial cystic lesion with progressive cranio-orbito-maxillary involvement. Neuroblastoma should be considered in the differential diagnosis of atypical fetal cranial or orbital masses. Careful prenatal surveillance, advanced imaging, and multidisciplinary perinatal planning are crucial for optimal postnatal management and family counselling.

Objectives: Transverse lie in advanced labor presents significant obstetric challenges and may complicate fetal extraction during cesarean delivery. Although cesarean delivery is generally considered protective against birth trauma, neonatal injuries may still occur during technically difficult extractions.

Case presentation: A 41-year-old gravida 6 para 5 woman with gestational diabetes mellitus, polyhydramnios, and an unstable transverse lie underwent external cephalic version at 37+3 weeks' gestation. Although cephalic presentation was initially achieved, the fetus reverted to a transverse lie within 3 h. With cervical dilatation of 8 cm and no presenting part, emergency cesarean delivery was performed under general anaesthesia. A poorly formed lower uterine segment intraoperatively necessitated the use of an inverted T uterine incision, and the neonate sustained a 2 cm scalp laceration and a minimally displaced right humeral shaft fracture. The scalp laceration was repaired immediately, while the humeral fracture was diagnosed on postnatal day 3 following the development of upper limb weakness and an absent Moro reflex. Both injuries were managed successfully with favourable outcomes.

Conclusions: This case highlights the challenges of cesarean delivery for transverse lie in advanced labor and demonstrates that neonatal trauma may occur despite operative delivery. Careful surgical planning, experienced obstetric involvement, and thorough neonatal assessment following difficult extraction are essential.

Objectives: Congenital glomuvenous malformations are uncommon vascular maformations caused by mutations in the glomulin gene that are either sporadic or dominantly inherited.

Case presentation: We describe the case of a fetal scalp mass - a glomuvenous malformation - detected prenatally in the third trimester of pregnancy. This defect was an isolated incidental finding without any other intra- or extracranial abnormalities. The pregnancy was managed in a tertiary fetal medicine unit, detailed investigations were performed and a plan for delivery was made following multidisciplinary input. The neonate was delivered following a planned caesarean section at 37-38 weeks. The mass was resected by the neurosurgical team on the first day of life and the baby was discharged in good health on day 7. The mass was sent for neuropathological examination, which confirmed a diagnosis of glomuvenous malformation.

Conclusions: Our case highlights the importance of third trimester assessment of fetal anatomy and the importance of prenatal diagnosis and multidisciplinary teamwork to improve perinatal outcomes in high-risk pregnancies. It also highlights that glomuvenous malformation should be considered in the differential diagnosis in pregnancies presenting with a subcutaneous scalp mass without an accompanying calvarial defect.

Objectives: We report an infant who presented with persistent pulmonary hypertension of the newborn (PPHN) to highlight this was likely due to congenital hypothyroidism.

Case presentation: A male infant born at term presented with respiratory distress and hypoxia two hours after birth requiring intubation and ventilation. Due to worsening clinical condition he was transferred from the local neonatal unit to a tertiary neonatal intensive care unit (NICU) for further management. An echocardiogram showed a structurally normal heart but with reduced right ventricular function and suprasystemic pulmonary artery pressures of 80 mmHg. There he required additionally inhaled nitric oxide, hydrocortisone, and intravenous fluid boluses. Sepsis was suspected as the underlying cause for the PPHN, but the infection screen was negative. He was subsequently diagnosed with congenital hypothyroidism on the newborn blood spot screening test. A technetium thyroid scan showed reduced uptake in the thyroid gland, in keeping with thyroid dyshormonogenesis. After consultation with the paediatric endocrinologists, he was commenced on levothyroxine and has made a good recovery.

Conclusions: PPHN and congenital hypothyroidism have rarely been reported in association with each other. Yet, thyroid hormones play a crucial role in perinatal cardiovascular adaptation, through their effects on vascular resistance, cardiac contractility and response to circulating catecholamines. This case emphasises that it is important to fully investigate an infant with apparently unexplained PPHN for rarer causes.

Objectives: To detail the clinical presentation, diagnostic challenges and autopsy findings of a neonate with unanticipated Congenital High Airway Obstruction Syndrome (CHAOS) and esophageal atresia (EA) with tracheo-esophageal fistula (TEF), while noting the small stomach as an observational prenatal finding in the absence of polyhydramnios that may prompt evaluation of the upper airway.

Case presentation: Thirty one weeks male neonate was born by vaginal delivery with severe respiratory distress following preterm prolonged rupture of membranes (PPROM) and placental abruption presenting with profound hypotonia and low Apgar scores. Antenatal imaging at 20 and 22 weeks had confirmed a small stomach and bilateral cerebral ventriculomegaly but consistently with normal amniotic fluid. Attempts at endotracheal intubation failed as the ETT could not be advanced past the vocal cords. During positive pressure ventilation (PPV), air was seen puffing in the neck, raising suspicion for upper airway obstruction. Emergency tracheostomy failed to achieve ventilation. Resuscitation was stopped about 90 min of life. Autopsy report showed congenital laryngeal/tracheal atresia at the level of the cricoid cartilage, proximal esophageal atresia with Type C TEF, hypoplastic lungs and a small stomach.

Conclusions: This case suggests that small stomach may be an observational prenatal finding for associated esophageal obstruction, prompting evaluation of the upper airway, especially in the setting of normal amniotic fluid. A high degree of suspicion for CHAOS should guide management in neonates presenting with severe respiratory distress and failed intubation. If difficult intubation is anticipated, ENT team availability will help for immediate tracheostomy.

Objectives: X-linked chondrodysplasia punctata type 1 (CDPX1) is a rare skeletal dysplasia caused by pathogenic variants in ARSL (Arylsulfatase L), formerly known as ARSE (Arylsulfatase E), resulting in defective arylsulfatase E activity and abnormal cartilage matrix formation. It is typically defined by stippled epiphyses, nasomaxillary hypoplasia, and brachytelephalangy, but the condition has phenotypic variability. We report an infant with a pathogenic ARSL variant (NM_000047.3:c.1442C>T; p.Thr481Met) to highlight an exceptionally severe and complex phenotype.

Case presentation: A male infant was born at term following a caesarean section. A narrow sacral spine, a flat facial profile and an absent nasal bridge had been detected antenatally. He developed refractory respiratory failure with recurrent lung collapse and pneumothoraces in the first 3 months, associated with diffuse tracheobronchial calcification and progressive high cervical myelopathy on radiological evaluation. From 5 months of age, he experienced episodes of abrupt cardiorespiratory arrest linked to movement. Stabilisation of the neck markedly reduced those events temporarily, implicating dynamic cervical cord compression as the precipitating mechanism. He required prolonged mechanical ventilation, had recurrent infections and progressive neurological impairment and hydrocephalus warranting long term respiratory and neurosurgical follow up. This case represents one of the first descriptions of movement-related autonomic reflex asystole secondary to cervical cord compromise in ARSL-related CDPX1.

Conclusions: Our report broadens the clinical spectrum of CDPX1 to include dynamic cervical cord compression with potential secondary autonomic cardiac events. Early genetic confirmation, anticipatory airway and spinal imaging, extensive respiratory and multidisciplinary management are essential for early recognition, prognostication and prevention of potentially fatal outcomes in severe forms of this rare disorder.

Objectives: This work aims to characterize the clinical manifestations and diagnostic challenges associated with pregnancies affected by congenital myotonic dystrophy through a detailed case report of an individual seen in our center and a comprehensive case series overview.

Case presentation: A 33-year-old woman presented at 33 weeks-gestation with symptomatic severe polyhydramnios (AFI 55.2) and an otherwise uncomplicated prenatal course with no anomalies on ultrasound. She underwent amnioreduction, which initially revealed normal genetic testing results (46,XX karyotype and normal microarray). At 34 weeks, she underwent repeat cesarean delivery for new-onset non-immune hydrops fetalis. Because of the hydrops, severe hypotonia, and respiratory distress requiring intubation of the neonate, further genetic testing was performed and was positive for congenital myotonic dystrophy (1,880 CTG repeats in DMPK). This testing also indicated that the mother had >200 repeats, consistent with myotonic dystrophy type 1.

Conclusions: Idiopathic polyhydramnios and non-immune hydrops fetalis, even in the absence of structural anomalies, should prompt consideration of neuromuscular conditions such as congenital myotonic dystrophy in the differential diagnosis.

Objectives: Advanced primary abdominal pregnancy, an extremely rare condition, poses diagnostic challenges and carries a risk of serious maternal and perinatal complications. In the absence of evidence-based protocols, current management approaches are predominantly guided by anecdotal reports and individual clinical judgment. We report a case of primary advanced abdominal pregnancy in a primigravida.

Case presentation: A 26-year-old asymptomatic woman at 31 + 6/7 weeks' gestation was referred for routine third-trimester ultrasonography, which revealed a non-gravid uterus, a viable extrauterine fetus, oligohydramnios, and placental invasion of the right pelvic wall. Magnetic resonance imaging confirmed these findings and demonstrated placental compression of the right ureter with moderate hydroureteronephrosis. A multidisciplinary team was assembled. At 32 + 6/7 weeks, cystoscopic-guided ureteric stenting followed by midline laparotomy resulted in the delivery of a live female neonate. Due to extensive placental vascularity and critical attachments, the placenta was left in situ, and postoperative methotrexate alternating with folinic acid was administered to promote placental involution. The postoperative course was uneventful. Serial follow-up imaging showed progressive placental regression.

Conclusions: Even when facing a rare, challenging condition, favorable maternal and neonatal outcomes can be achieved through accurate pre-operative diagnosis, early involvement of a multidisciplinary team, thoughtful intra-operative decision-making, and meticulous post-operative care.