Case Reports in Perinatal Medicine最新文献

Objectives: Hamartomas are non-neoplastic developmental anomalies, mostly congenital, characterized by uncontrolled, disorganized proliferation of local endogenous tissue, which can normally be found at the site of origin and are very often mesodermally derived. It is well known that hamartoma can be associated with congenital midline cervical cleft and therefore cause a variety of symptoms. In general, they are benign and indolent, but they can be the cause of complex morbidity if they are localized within specific regions, such as the head and neck, which represent highly sensitive and vulnerable areas.

Case presentation: The reported case is unusual because of the presence of a congenital mesenchymal hamartoma along with the median cervical cleft, in a 1-day-old neonate, without the presence of any respiratory symptoms or associated congenital features. Although extremely rare, hamartomas should be included in the differential diagnosis of congenital neck masses, with emphasis on diagnostic approach, to avoid overly aggressive treatment and possible complications, such as infection, further mass growth, malignant transformation and compression of the adjacent neck structures.

Conclusions: Appropriate and timely treatment of the hamartoma of the neck in neonates, with further follow-up is necessary to avoid an overly aggressive treatment and to distinguish benign from malignant lesions, which is necessary for successful curative outcome.

Objectives: Umbilical artery aneurysm, a rare structural anomaly of the umbilical cord, is frequently associated with fetal aneuploidy, fetal growth restriction and fetal demise. At present there are no definitive protocols or guidelines for the surveillance and management of this condition.

Case presentation: The index case is an 18-year-old primigravida who had an ultrasound at 35 weeks and 5 days gestation due to lagging symphysio-fundal height measurement. The ultrasound scan revealed a normal fetus with estimated fetal weight that was appropriate for gestational age. There was a cystic structure with internal echoes originating from the placenta at the point of the umbilical cord insertion, which was determined to be a 1.9 × 1.8 cm umbilical artery aneurysm on 3D and Doppler imaging. On follow up imaging the aneurysm had increased in size and measured 3.06 × 1.79 cm. The patient subsequently had a cesarean section delivery of a live female. Karyotyping subsequently revealed 46 XX.

Conclusions: A total of 15 cases of umbilical artery aneurysm have been reported in the literature to date, of which there were 5 live born infants with normal karyotype. The remaining 10 cases were intra-uterine fetal demise or trisomy 18 with subsequent neonatal deaths. When monitoring the aneurysms with ultrasound, change in size and Doppler indices play a pivotal role in helping to determine time and mode of delivery and thus allow for a favorable perinatal outcome.

Objectives: With the increased survival of preterm neonates, thromboembolic (TE) events are increasingly being recognized due to the use of indwelling catheters. It is still debatable to treat TE with low molecular weight heparin (LMWH) or follow expectant management. Despite the safety and efficacy profile about using LMWH in adults, its use in extreme preterm neonates with TE events is limited. The therapeutic level and pharmacokinetics of LMWH in the preterm population are relatively variable.

Case presentation: We present a case with a severe hematoma on the left thigh following the use of LMWH, which was surgically drained and had a successful skin graft.

Conclusions: This case highlights the importance of early and close monitoring of injection sites in patients treated with LMWH.

Objectives: Massive fetomaternal hemorrhage (FMH) is a rare and difficult to diagnose event that can have catastrophic outcomes. Although many etiologies have been associated with FMH, the majority of cases are idiopathic and affect uncomplicated pregnancies. The prevailing symptom is decreased fetal movements but some cases are asymptomatic. Changes in the fetal Doppler ultrasound, a sinusoidal cardiotocographic pattern, neonatal anemia, unexplained hydrops or stillbirth can raise suspicion that such an event has occurred.

Case presentation: This article presents a case series of severe FMH diagnosed in our center between 2011 and 2020 as well as a review of the current available literature.

Conclusions: We highlight the importance of the clinician's awareness on detecting this rare but potentially life-threatening event.

Objectives: Congenital anomalies of the kidneys and urinary tract (CAKUT) are one of the most common sets of congenital defects. Bilateral renal agenesis is a severe presentation of the CAKUT spectrum.

Case presentation: We report on two families who presented with recurrent pregnancies affected with bilateral renal agenesis and negative family histories. Likely pathogenic variants in the GREB1L gene were identified in the affected pregnancies and subsequently in their asymptomatic fathers. The first familial variant was identified by a multi-gene CAKUT panel and the second by whole exome sequencing. Renal ultrasound showed the father in family 1 had asymptomatic unilateral pelvic kidney and the father in family 2 had no apparent renal anomalies.

Conclusions: Recent identification of genes responsible for CAKUT allows for genetic testing of affected families. Identification of the genetic etiology of CAKUT cases has multiple benefits including accurate risk assessment and reproductive options. Genetic counseling around CAKUT is challenging due to the extreme variability in presentation of the disorders.

Objectives: The true incidence of anaplastic ganglioglioma during pregnancy is extremely rare, very few cases have been reported in the literature.

Case presentation: This is a report of a case of anaplastic ganglioglioma diagnosed in pregnancy. The patient is a 23-year-old primigravida who presented at 19 weeks of gestation headache and a convulsive episode. Her workup revealed a rare cerebral tumor that progressed to a neurological decline and died during the postpartum period.

Conclusions: Anaplastic ganglioglioma is an aggressive counterpart of Glial tumors; in pregnancy they are rare and symptoms are nonspecific. The outcome for the mother in this case fatal and a protocol for these cases has not yet been reported.

Objectives: The ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome is a rare genetic anomaly described as ectrodactyly (hands and feet), ectodermal dysplasia, and facial cleft with an incidence of around 1 in 90,000 in the population. This syndrome belongs to the TP63 gene's mutation family. Ectrodactyly is described as the absence of the central toes or fingers or parts of these appendages. Ectodermal dysplasia usually includes changes in the skin, teeth, hair, nails, endocrine glands, nasolacrimal ducts, genitourinary system, conductive hearing loss.

Case presentation: This is a unique case of a 40-year-old second gravida, suspected of having a sporadic form of EEC syndrome. Routine transabdominal ultrasound at 14 weeks of gestation revealed malformation of the limbs. The two-dimensional and three-dimensional ultrasound at 16 weeks showed a fetus with ectrodactyly of right hand and foot and cleft palate presence. Diagnostic amniocentesis was performed at 17 weeks of gestation. A molecular genetics test using the Sanger sequencing method from amniotic fluid was performed by scanning TP63 gene sequences and revealed a heterozygous pathogenic variant in TP63. The patient decided on feticide.

Conclusions: The heredity of the syndrome is autosomal dominant with high variable expression. More than 300 clinical cases of this syndrome are described in the literature, including both sexes, but the actual etiology is unknown.

Objectives: Pelvic actinomycotic abscess is uncommon and its presentation as a post-cesarean complication may be confused with hemorrhagic mass. It is still a disease that poses a significant diagnostic challenge. Management and prognosis are not well known for this type of infection.

Case presentation: A 36-year-old woman was admitted to the hospital six days after the cesarean section with abdominal pain and dysuria. The second operation was diagnosed as pelvic abscess, debridement and drainage about 250 mL abscess. Bacterial culture of abscess confirmed as Actinomyces odontolyticus infection. Intravenous penicillin was given immediately, amoxicillin was taken orally for three months after discharge, and no recurrence was found after follow-up for ten months.

Conclusions: Pelvic A. odontolyticus abscess may be confirmed through correct bacterial culture and cured by a short-term course of Amoxicillin. With prompt recognition and treatment, favorable outcomes of pelvic Actinomycotic abscess in the perinatal period could be achieved.

Objectives: Haemophagocytic lymphohistiocytosis (HLH) is a potentially fatal disorder of the immune system that typically occurs in the paediatric population. Diagnosing this rare disease in the adult population is challenging, particularly during pregnancy.

Case presentation: We present a case of a gravid patient developing HLH at week 13 of gestation undergoing a medical termination of pregnancy at 27 weeks due to anhydramnios and associated stopped foetal growth.

Conclusions: Disease triggers could vary from a simple viral infection to the pregnancy as such causing the disorder. Treatment should benefit the mother and limit the foetal harm.

Objectives: Coxsackievirus B3 (CVB3) is a single-stranded RNA included in the "Human Enterovirus B" category associated with multiple, even severe, health issues in humans. Newborns are at risk of life-threatening conditions due to enteroviral infections. In newborns, the infection can be transmitted vertically, intrapartum or postpartum, and potentially through breast milk. Neonatal sepsis may result in severe complications, such as liver failure and pulmonary hemorrhage, with subsequent death.

Case presentation: A male newborn was admitted to the emergency department with fever, generalized hypotonia, hypo-reactivity to external stimuli, multiple episodes of apnea and desaturation, and metabolic acidosis. Laboratory studies revealed disseminated intravascular coagulation, and evidence of progressive multiorgan failure. Polymerase chain reaction performed on specimens collected at the time of admission returned positive for Enterovirus, specifically Coxsackievirus B3 VP1 gene. The patient eventually succumbed after several days due to severe sepsis, despite aggressive treatment with immunoglobulins and Pleconaril. An autopsy revealed hemorrhage in the lung, liver, heart, and gastric mucosa.

Conclusions: Enteroviral neonatal infections should be included in the differential diagnosis of a newborn presenting with fever, failure to thrive, and hyporeactivity, especially if symptoms arise during the classic CVB3 season. Maternal medical history should be reviewed for any possible febrile symptoms associated with a recent enterovirus infection. Aggressive treatment with immunoglobulins and, if available, Pleconaril could effectively treat the infection.