Case Reports in Perinatal Medicine最新文献

Objectives: Aromatase deficiency is a rare autosomal recessive condition due to a mutation in the CYP19A1 encoding aromatase enzyme. This enzyme protects the fetus and mother from excess androgens by converting them into estrogen. We are reporting a case of aromatase deficiency presented with atypical genitalia and maternal virilization due to a novel mutation in CYP19A1.

Case presentation: A 10-day-old newborn presented with atypical genitalia and a history of maternal virilization during pregnancy. On examination, the baby had a Prader score of 3. Further investigation revealed karyotype 46 XX, with a normal uterus and ovaries on ultrasonography. The hormonal profile of the baby was normal except for the raised follicle stimulating hormone (FSH). Maternal ultrasound revealed polycystic ovaries, and the hormonal profile was within the normal range with slightly raised testosterone. Whole exome sequencing was done, which reported that the baby was carrying a novel homozygous mutation of the CYP19A1 gene c.575G>C p. (Arg192Pro), confirming the diagnosis of aromatase deficiency.

Conclusions: Aromatase deficiency is a rare condition. A history of maternal virilization during pregnancy in a child born with atypical genitalia should alert physicians to consider aromatase deficiency.

Objectives: To present a case of acquired factor VIII deficiency in the setting of labor and describe the challenges of its diagnosis and treatment.

Case presentation: A 31-year-old woman was diagnosed with acquired factor VIII deficiency while undergoing induction of labor. Her labor and post operative course were complicated by epidural hematoma formation, prolonged postoperative surgical site bleeding, and subcutaneous hematoma. Management included blood products, human Factor VII, rituximab, and a steroid taper.

Conclusions: Acquired factor VIII deficiency can be challenging to diagnose and should be considered in the differential diagnosis in patients with prolonged bleeding accompanied by a prolonged activated partial thromboplastin time (aPTT).

Objectives: Milroy syndrome is a rare hereditary disorder characterized by congenital lymphedema, caused by mutations in the vascular endothelial growth factor receptor 3 (VEGFR3) gene.

Case presentation: We present a case report of a first-described mutation of a male fetus diagnosed prenatally with Milroy syndrome through amniocentesis. The fetus had bilateral lower limb edema, and genetic testing confirmed the diagnosis of Milroy syndrome. The patient was closely monitored throughout the pregnancy, and after delivery, the infant was managed with appropriate therapies, including compression garments and manual lymphatic drainage. The parents were provided with appropriate counseling and support.

Conclusions: This case highlights the significance of early detection and appropriate management of Milroy syndrome, which can lead to improved outcomes for affected infants.

Objectives: The incidence of congenital brain tumors is estimated at 1.1-3.6 per 100.000 live births, accounting for 0.5-2 % of all cancers in the pediatric population. Congenital gliomas account for 3.1-8.9 % of all congenital brain tumors and are cancers with a poor prognosis. The rate of stillbirth and death on the first day of life reaches 29 %; 38 % die within the first week, and 56 % die within the first two months. The average length of survival is two years.

Case presentation: In the 29th week of pregnancy, a female fetus was diagnosed with intracranial hemorrhage complicated by hydrocephalus. Postnatal brain MRI imaging showed a solid proliferative lesion of the left hemisphere with dilatation of the ventricular system. Brown cerebrospinal fluid was collected during the puncture of the left lateral ventricle to reduce hydrocephalus. No tumor cells were detected by cytology. Due to increasing hydrocephalus, the patient was qualified for Rickham reservoir implantation. On day 27th, a craniotomy was performed to determine the etiology of recurrent prenatal intraventricular bleeding. During surgery, the bleeding mass raised the suspicion of neoplasm-histopathological examination of the retrieved tissue diagnosed WHO stage IV malignant glioma. The patient died at 8 months of age.

Conclusions: Prenatal diagnosis of an abnormal structure in the fetal brain remains a diagnostic challenge in neonates. Glioblastoma is a rare neoplasm with a poor prognosis.

Objectives: With increasing rates of cesarean delivery across the United States, a trial of labor after cesarean (TOLAC) is a reasonable alternative for qualified candidates. Although Müllerian anomalies are associated with a variety of adverse pregnancy outcomes, there is little existing data regarding TOLAC in these patients. We present a case of a patient with a didelphys uterus who achieved a successful vaginal birth after cesarean section (VBAC) in the setting of labor augmentation.

Case presentation: Our patient is a 32-year-old G4P1021 (Gravida 4 Para 1,021-1 term delivery, 0 preterm deliveries, 2 abortions, 1 living offspring) who presented at 8 weeks of gestation with a known history of a didelphys uterus. Her obstetrical history was significant for a prior low-transverse cesarean section at term. All four of her pregnancies were located in the right uterine horn. At 39 weeks 3 days of gestation she presented in early labor and requested a TOLAC. She received an epidural, a cervical ripening balloon was placed, and she was started on pitocin. She pushed to deliver a viable infant. The patient's postpartum course was uncomplicated, and she was discharged home on postpartum day two.

Conclusions: Müllerian anomalies are associated with several poor pregnancy outcomes including increased rates of PPROM, preterm delivery, FGR, and malpresentation necessitating a cesarean section. Our patient required augmentation of her labor but was ultimately able to achieve a successful VBAC with a healthy neonate. She represents an understudied population of patients with uterine anomalies who not only can have favorable pregnancy outcomes but may even be able to safely achieve a VBAC.

Objectives: Bilateral congenital diaphragmatic hernias (CDH) occur in one to two percent of CDH patients. There is a lower survival due to the greater likelihood of lung hypoplasia and associated anomalies. We report an infant with bilateral CDH and duodenal atresia who was successfully treated by fetoscopic endoluminal tracheal occlusion (FETO).

Case presentation: The fetus was diagnosed with CDH at 23 weeks of gestation. Her mother was referred to our tertiary centre as the observed to expected lung-to-head ratio (O/E LHR) at 26 weeks of gestation was only 17 %. The fetus was treated by FETO with an increase in the LHR. The mother had polyhydramnios and underwent amniotic fluid drainage at 26 and 31 weeks of gestation. She had preterm, premature rupture of the membranes at 31+3 weeks of gestation. The FETO balloon was punctured and the mother received corticosteroids. She underwent spontaneous labour at 35+6 weeks of gestation when the LHR was 55 %. At birth, the female infant was electively intubated and ventilated. After successful stabilisation, surgical intervention was undertaken on day six when the defects were identified as bilateral, type C posterolateral CDHs. Bilateral patch repair of the CDHs was undertaken using 'domed' Goretex patches. Type one duodenal atresia (DA) was identified and repaired with enterotomy and diamond duodenoduodenostomy. There was partial and then full abdominal closure on days 12 and 15 respectively. The infant is now four months of age and requires no respiratory support.

Conclusions: FETO can improve prognosis in infants with bilateral CDH.

Objectives: Birth-related mechanical trauma to the newborn is an important issue and may be underestimated [Chaturvedi A, Chaturvedi A, Stanescu AL, Blickman JG, Meyers SP. Mechanical birth-related trauma to the neonate: an imaging perspective. Insights Imag 2018;9:103-18]. Risk factors for birth-related injuries include vacuum or forceps delivery, large size for gestational age and abnormal presentation before delivery [Gupta R, Cabacungan ET. Neonatal birth trauma: analysis of yearly trends, risk factors, and outcomes. J Pediatr 2021;238:174-80]. When a newborn has a soft tissue mass, there is a wide range of potential diagnoses, ranging from benign traumatic origins to aggressive phenotypes of malignant tumors [Thacker M. Benign soft tissue tumors in children. Orthop Clin N Am 2014;44:433-44]. Diagnosing a congenital tumor in a newborn creates uncertainty for parents and health care providers. Accurate imaging is crucial for distinguishing soft tissue mass origins.

Case presentation: A 32 weeks 6 days pregnant Caucasian woman was admitted after premature prelabor rupture of membranes (PPROM). Fetal ultrasound showed no abnormalities, the infant was born by a caesarean section. The delivery was complicated by the infant's transverse position. A female infant was born with a large left-sided dorsal soft tissue mass at the thoracic level with elastic consistency, and multiple skin lacerations. A broad differential diagnosis was made. Additional imaging was suggestive for a posttraumatic swelling due to transverse position during birth. The mass decreased and disappeared over three days.

Conclusions: The diagnosis of a soft tissue mass in a newborn can be challenging. A birth-related trauma affecting the soft tissue should be considered, especially if prenatal ultrasound findings were normal. Malpresentation during birth is a significant risk factor. Accurate diagnostic imaging is important to do before conducting further diagnostic examinations. The time course of the mass, before and after birth, can aid in determining its origin.

Objectives: To present an unusual presentation and diagnosis of CHARGE syndrome with vocal fold paralysis, a rarely associated congenital laryngeal anomaly, as the presenting feature.

Case presentation: A four-day old, full-term, male infant born via uncomplicated vaginal delivery with a nursery course significant for failed hearing screen presented to an emergency department (ED) with respiratory distress and worsening stridor. He was transferred to a level III neonatal intensive care unit (NICU) for further evaluation and required intubation due to progressive hypercarbia. Laryngoscopy revealed left-sided unilateral vocal fold paralysis (VFP). He underwent further evaluation that included a normal MRI brain, neck and chest. Genetics was consulted with concern for dysmorphic features on physical exam. Following gene panel testing, VFP was attributed to known association with CHARGE syndrome. Airway edema was noted on laryngoscopy that prevented extubation until two months of age. Further features of CHARGE syndrome identified included colobomas, glaucoma, sensorineural hearing loss, and genital abnormalities. He was discharged in room air and following gastrostomy tube placement with otolaryngology follow up.

Conclusions: Although choanal abnormalities are classically associated with CHARGE syndrome, other upper airway anomalies such as VFP may be present. VFP is a rarely reported anomaly in association with CHARGE syndrome (Naito Y, Higuchi M, Koinuma G, Aramaki M, Takahashi T, Kosaki K. Upper airway obstruction in neonates and infants with CHARGE syndrome. Am J Med Genet 2007;143A:1815-20; Morgan D, Bailey M, Phelps P, Bellman S, Grace A, Wyse R. Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg 1993;119:49-54).

Objectives: Standard genetic testing can fail to identify an underlying genetic etiology in pregnancies affected by multiple fetal abnormalities. Recently, whole exome sequencing (WES) studies have shown promise in recognizing genetic diagnoses where standard genetic testing does not yield answers.

Case presentation: A 35-year-old G1P0 healthy female found at anatomy scan to have multiple fetal anomalies, including severe bilateral ventriculomegaly, renal pyelectasis, and short long bones. Karyotype and microarray were normal. Whole exome sequencing showed the fetus was compound heterozygous for likely pathogenic variants in the ROBO1 gene.

Conclusions: In the presence of multiple fetal anomalies with normal karyotype and microarray, whole exome sequencing should be considered to not only provide answers for the affected parents, but also aid in future pregnancy planning.

Objectives: Amniotic fluid is essential for proper fetal development. In the case of severe polyhydramnios associated with low fetal growth, a number of different underlying disorders must be considered. One such condition is congenital central hypoventilation syndrome (CCHS) or Ondine's curse, a rare genetic disease caused by mutation of the PHOX2B gene. The incidence of CCHS is estimated to be 1 case in 200,000 live births. No publications have been made to date on the intrauterine period findings. This precludes an early intrauterine diagnosis and impedes ethically responsible therapeutic options.

Case presentation: A 37-year-old patient presented in her second pregnancy with a small for gestation fetus and severe polyhydramnios evidenced in the third trimester ultrasound (US) study. There were no previous signs of maternal diabetes or fetal abnormalities at US. During the immediate postpartum period, the newborn presented repeated apneas with cyanosis and hypo-responsiveness. Neonatal arterial blood gas testing revealed severe respiratory acidosis requiring orotracheal intubation and admission to the Neonatal Intensive Care Unit. Over the following days, all imaging and functional test findings were within normal ranges. A de novo pathogenic PHOX2B variant was identified.

Conclusions: Despite a high mortality rate, no neurological sequelae or other systemic diseases were recorded, thanks to multidisciplinary and coordinated follow-up.