Volume 9, Issue 1

Objectives Lung tissue choristoma is a very rare disorder where mature lung tissues develop in the site not normal to the lung. Case presentation We hereby report a first case of fetal pulmonary choristoma in a 23–24 weeks fetus where antenatal ultrasound showed a mass in posterior fossa with severe ventriculomegaly. The mass extended inferiorly in cervical spinal column and thereafter extended in the skin over the back of fetus. Fetal autopsy confirmed these findings. Pathologic findings showed mature lung tissues with bronchi, bronchioles, and alveoli. Clinical exome sequencing showed normal results. Conclusions We describe the antenatal ultrasound, fetal autopsy and pathologic findings of an intracranial and cutaneous pulmonary choristoma.

Objectives Partial trisomy 14q is a rare chromosomal abnormality with an extremely variable phenotype ranging from mild to severe forms of malformation. Most of the cases described in literature are postnatal clinical findings although few prenatal cases have been reported. Case presentation A 33-year-old woman at 21+6 weeks’ gestation was referred to our hospital for a detailed foetal ultrasound with suspected partial agenesis of corpus callosum and ureterocele. On examination, we found a short corpus callosum and ureterocele with a duplicated right renal collecting system. Moreover, there was an intrarotation of left foot with a prominent part departing from the ankle, both thighs appeared thicker, a thickening of the nuchal fold, a mild hypertelorism and a thick heterogeneous placenta. The patient underwent magnetic resonance imaging (MRI), which confirmed the foetal anomalies. The couple opted for a termination of pregnancy. Chromosome analysis and molecular karyotyping of amniocytes revealed a de novo rearrangement of chromosome 14 with an interstitial gain 14q31.1–14q32.22 and a terminal deletion 14q32.33. Conclusions The majority of partial trisomy 14q reporter are postnatal diagnoses. Improvement in the quality of foetal imaging and molecular techniques have made possible to identify many genetic syndromes prenatally. In our opinion, anomalies of the brain, urinary system and limbs may be the core findings of trisomy 14q. To our knowledge, no such case has ever been described previously.

Objectives To describe the prenatal diagnosis of Kleefstra syndrome (KS), a rare panethnic disorder characterized by mental and developmental delays, distinct facial features, congenital heart and urogenital defects, among others. KS is caused by haploinsusufficiency and loss of function of euchromatin histone methyltransferase 1 (EHMT1) due to deletions or mutations in the chromosomal region 9q34.3. Case presentation The prenatal diagnosis of KS in this case report includes the description of subtle fetal phenotypic abnormalities detected by the fetal ultrasound examination as well as the results of the amniotic fluid microarray analysis that confirmed a fetal denovo deletion in the chromosomal region 9q34.3. These results confirmed the prenatal diagnosis of KS. Conclusions This case is noteworthy because of the late development of very subtle ultrasound abnormalities that triggered prenatal diagnostic studies in amniotic fluid cells, including SNP microarray analysis, that defined the diagnosis of KS. It allowed us to obtain the necessary antepartum consultations with neonatology, other pediatric subspecialties and arrange for the patient’s appropriate place of delivery to optimize the fetal and neonatal outcome.

Objectives Infective endoplastitis/endocarditis (IE) due to a cardiac implant is an extremely rare event during pregnancy. Management and prognosis is not well known in this population. Case presentation A 29-year-old woman, gravida 1 para 0, at 19 3/7 weeks gestation with an Amplatzer septal occluder presented to the hospital with fever. A transesophageal echocardiogram demonstrated cardiac vegetations. She subsequently underwent cardiopulmonary bypass surgery with fetal monitoring to remove the device and eventually went on to deliver a full-term infant. Conclusions IE should be on the differential in patients with cardiac device. Multidisciplinary efforts enable prompt initiation of treatment after weighing the risks and benefits to both mother and fetus. Lastly, the fetal status can be utilized to assess for hemodynamic status of the mother.

Objectives We aim to report a case of a fetal goiter with postpartum spontaneous resolution. Fetal goiter can be secondary to maternal treatment and range from clinically asymptomatic or cause alterations in the fetus, from impaired swallowing to difficulty in vaginal delivery and even perinatal asphyxia due to the mass effect. The need for intrauterine treatment remains controversial. Case presentation We present a case of fetal goiter with postpartum resolution. A 34-year-old multigravida presented to the emergency department with hiperemesis gravidarum at 10 weeks’ gestation. During evaluation for severe vomiting, Graves disease was diagnosed and treated with propylthiouracil. A routine ultrasound scan at 28 weeks gestation revealed a fetal anterior neck mass suggesting a fetal goiter. Cordocentesis showed fetal iatrogenic hypothyroidism. Conservative treatment was decided. Pregnancy concluded uneventful and the mass resolved spontaneously in the newborn. Conclusions The fetal thyroid gland is a structure that usually goes unnoticed during the process of prenatal diagnosis. In cases of maternal Graves diseases, fetal thyroid needs monitoring during pregnancy and conservative treatment is an option. Fetal goiter should be searched for secondary to thyroid alterations of the gravida, and in selected cases it can be managed without intrauterine treatment.

Objectives Uterine fibroids are the most common benign tumors in women of procreative age. The effects of their occurrence affect the course of pregnancy by increasing the frequency of abortions, premature delivery or premature abruption of the placenta. Medical treatment includes clinical observation, pharmacological pain control, myomectomy during pregnancy or perinatal hysterectomy. Case presentation We present a survey of literature and the case of a pregnant woman with an enormous uterine fibroid 23×13×16 cm on the basis of which a diagnostic-therapeutic scheme for tumors of the reproductive organs during pregnancy has been developed. Conclusions The study presents improved recommendations for management the pregnancies in presence of the uterine myomas based on clinical practice.

Objectives Umbilical cord varix is an abnormal dilatation of the umbilical vein. There are two types of umbilical venous varix, of which the free-loop type is extremely rare, and the prognosis and etiology are unclear. In this report, we present a case of a significantly enlarged varix in the free loop of the umbilical cord found in the second trimester. Case presentation Cesarean section was performed at 28 weeks’ gestation due to enlargement of the varix and rapidly increased umbilical venous velocity at the outlet of the varix. Neonatal blood tests revealed anemia and high concentrations of D-dimer, and they were considered to be due to clot formation inside the umbilical cord venous varix. The neonate received blood transfusion but other neonatal course was generally favorable. Thrombus formation in the enlarged varix was due to the constriction of the umbilical cord. Conclusions This case showed that the assessment of umbilical venous flow velocity can be used for estimating the constriction of the umbilical vein and for determining the timing of delivery.

Objectives A novel betacoronavirus, SARV-COV-2, was first reported in China on December 31, 2019. Since that time, the number of cases worldwide has grown exponentially. Because this coronavirus was newly described in the human population, strategies to combat spread, to test appropriately, and to identify those at higher risk for severe disease changed frequently as understanding evolved. Case presentation This is a report of a case that demonstrate that coinfection with SARS-CoV-2 is possible and likely more common than initially projected. The patient is a 28-year-old G2P1001 at 31 weeks and four days gestation that presented with a 5-day history of high fevers, cough, myalgias, malaise and headache. Patient was diagnosed with Rhinovirus/Enterovirus, admitted for supportive care, and no longer considered a person under investigation for COVID19 because of her positive respiratory panel. Patient’s SARS-CoV-2 screen came back positive two days after her discharge from the hospital. Patient required readmission for worsening symptoms later that night, presenting with tachypnea, hypotension, and pneumonia. Patient was successfully discharged home on hospital day six. Conclusions Co-infection with other respiratory viruses happens more than originally thought, therefore going forward protocols should be cognizant of this. When patients present with symptoms suspicious of COVID-19, he or she should be tested regardless of the status of the respiratory viral panel, including influenza.

Objectives To analyze pregnancy management and postnatal follow-up in monochorionic monoamniotic (MCMA) pregnancies complicated by a congenital heart defect (CHD) in one twin and to compare the results with current recommendations concerning time and mode of delivery in MCMA pregnancies. Cases presentation Perinatal medical records of five pairs of monoamniotic twins referred to Fetal Cardiology Department were analyzed. 5 out of 23 MCMA pregnancies (21.7%) were complicated by CHD in one fetus. Cesarean section (CS) was performed between 32 and 35 weeks of gestation (WoG). 9 out of 10 neonates had respiratory failure, including all patients with CHD. Twins without congenital abnormalities spent median 21 days (range 10–40 days) in neonatal units. Patients with CHD were transferred to cardiology departments on average 6th day of life. All were operated on later than term-born neonates, 4 out of 5 required stage surgery and their median stay in the hospital was 75 days (range 48–106 days). Conclusions According to current recommendations, delivery in MCMA pregnancies should be scheduled at 32–34 weeks. In cases complicated by CHD in one twin, such early delivery complicates surgical treatment and may affect the final outcome. Low body weight and respiratory disorders increase the risk of complications in the perioperative period and prolong hospitalization.

Objectives A case report involving a tight nuchal cord and concomitant shoulder dystocia with a review of the literature. We demonstrate that favorable outcomes may result with correct application of maneuvers and adequate management after delivery. Case presentation A 41 years old woman was admitted with spontaneous rupture of membranes. The first stage of labor was unremarkable. During the second stage, an intentionally-cut tight nuchal cord was followed by 9 min of shoulder dystocia that was finally relieved by delivery of the anterior shoulder. APGAR scores were 0, 3, 4, 7 at 1, 5, 10 and 20 min respectively. The neonate was placed under therapuetic hypothermia and was discharged after 13 days. At 5 months and 1.5 years of age, the infant met age appropriate developmental milestones with no neurologic sequela. Conclusions Shoulder dystocia can result in fatal outcomes for the neonate. Adequate management highlights the need for prompt recognition of this complication and application of appropriate maneuvers. Therapeutic hypothermia decreases mortality and improves neurological development in infants who experience hypoxic ischemic encephalopathy (HIE).

Objectives Circumvallate placenta is a rare abnormality of placental shape. Current data indicates that a circumvallate placenta can be a risk factor for severe adverse obstetric and neonatal outcomes such as antepartum bleeding, premature delivery, oligohydramnios, intrauterine growth restriction and placental abruption. An unusual insertion of the umbilical cord can cause a reduction of perfusion and can also lead to pregnancy complications. However, the clinical significance of these pathoanatomical findings often remains unclear. Case presentation We report a case of a 22-year-old third gravida nullipara in 28+2 pregnancy weeks with a pathological cardiotocography (CTG) and a growth restricted fetus with oligohydramnios and pathological umbilical blood flow. Due to recurrent decelerations of fetal heart rate the baby was delivered via cesarean section. The examination of the placenta showed a circumvallate placenta and fixated umbilical cord mimicking a battledore insertion. Conclusions It can be concluded that circumvallate placenta may predispose to severe obstetric complications. Women with circumvallate placenta and abnormal cord insertion probably benefit from stringent follow ups in a specialized perinatal center. Histopathological examination of the placenta can be a diagnostic tool in women with recurrent obstetric complications.

Objectives Chorioangiomas (CAs) are the most frequent tumor-like-lesions of the placenta. Giant CAs (more than 4–5 cm in diameter) is rare and may result in severe maternal fetal complications. Case presentation A 38-year-old multigravida presented at 31 weeks’ gestation with contractions. Upon evaluation, contractions were spontaneously ceased, and the cervix was closed. Ultrasound examination revealed a single viable fetus, polyhydramnios and a 75 x 48 x 82 mm vascular lesion located on the placental surface near the cord insertion. Doppler assessment was suggestive of fetal anemia with middle cerebral artery-peak systolic velocity (MCA-PSV) 1.8 MoM’s. Fetal heart rate monitoring and biophysical scores were reassuring. Following betamethasone fetal cord sampling that revealed fetal hemoglobin level of 8.8 g/dL, 57 cc of blood was transfused resulting in final hemoglobin level of 14.3 g/dL measured prior to needle extraction. MCA-PSV was normalized immediately after the procedure, however aggravated at the following day with MCA-PSV 65 cm/s (1.46 MoM’s). No other intervention was taken and MCA-PSV continued to fluctuate from slight to severe anemia spontaneously over a period of two weeks. At 34 gestational weeks, the women delivered a healthy baby. Fetal hemoglobin level at delivery was 21 g/dL. Conclusions Fetal blood transfusion is a reasonable treatment for fetal anemia in cases of giant chorioangiomas. Following transfusion, MCA-PSV may act unexpectedly reflecting various mechanisms affecting the flow.

Objectives We aim to report a case of a septated urinary bladder with kidney dysplasia in a fetus presenting with 2q13 microdeletion. Several genes have been related to urogenital malformations. Reports of fetal multi-septated urinary bladder are extremely rare. Deletion 2q13 is responsible for a wide range of phenotypic manifestations but not commonly urogenital diseases. Case presentation We present a case of a primigravida with no contributing history referred to our center for suspected fetal kidney dysplasia. Ultrasound scan at 25 weeks gestation revealed septated urinary bladder and severe pelvic renal dilatation. CGH array showed de novo deletion 2q13. Upon counseling the parents opted for termination. Autopsy confirmed the urinary tract findings and normal external female genitalia. Conclusions To the best of our knowledge this is the first report of a 2q13 microdeletion and septated bladder. We suggest offering genetic counseling at the finding of a septated bladder and determine prognosis upon renal parenchymal destruction.

Objectives Umbilical artery thrombosis is a significant umbilical cord condition that is associated with adverse pregnancy outcomes. However, no consensus has been reached regarding how umbilical artery thrombosis should be diagnosed or managed because of its rarity and the difficulty associated with an antenatal diagnosis. Case presentation Here, we describe a case involving decreased fetal movement and non-reassuring fetal status (NRFS) in which acute umbilical artery thrombosis was prenatally diagnosed. Transabdominal ultrasound showed that the cross-section of the umbilical cord had one normal artery and a small deformed echogenic area. A characteristic ultrasound finding known as the “wink sign” contributed to the prenatal diagnosis. Conclusions Evaluation of the umbilical cord enabled the estimation and facilitated the subsequent antenatal management.

Objectives Spina bifida manifests in various forms, and the clinical imaging findings depend on the level of the vertebral defect. It is difficult to predict the severity of the neurological symptoms and the degree of urgency of early treatment antenatally. Case presentation In the present case report of fetal myelomeningocele (MMC), three-dimensional (3D) ultrasound showed accurate findings of fetal back surficial skin and tissue defect. The neonatologist and surgeons were able to decide upon appropriate treatment strategies on the basis of these findings. Conclusions 3D ultrasound helps provide information to neonatologists and neurosurgeons about the initial treatment and illustrates the physical appearance of the disease for the parents of the unborn child.

Background According to a 2017 Centers for Disease Control and Prevention (CDC) report, there were 23.1 million Americans living with diagnosed diabetes. Diabetes-related complications in pregnancy are spontaneous abortion, preterm delivery, preeclampsia, fetal malformations, altered fetal growth, polyhydramnios, and unexplained fetal demise. Continuous insulin delivery through insulin pump is used for effective management of type 1 diabetes (T1DM). Case presentation We present case reports of four patients who were on insulin pump for at least 1 year prior to pregnancy and continued throughout their pregnancy. Although these case reports demonstrated overall good pregnancy outcomes, it did not show how well their blood glucose was controlled during pregnancy. Conclusion Standard of care in diabetic management during pregnancy using insulin pump in the presented case reports supports the American Association of Clinical Endocrinologists recommendation that insulin pump should be used for women with preexisting T1DM during pregnancy.

Background Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening disease. It is characterized by impaired natural killer cell and cytotoxic lymphocyte function leading to dysregulated macrophage phagocytosis of erythrocytes, leukocytes and platelets. Coupled with a massive release of cytokines this rapidly leads to multi-organ failure and mortality if not treated promptly. Case presentation We report a case of pregnancy-associated, treatment-resistant HLH with no identified risk factors. Conclusion It is likely that HLH is an unrecognized cause of intractable fever and disseminated intravascular coagulation (DIC) in young pregnant women and it should be included in the differential diagnosis when patients do not respond to typical therapies. High serum ferritin should further prompt consideration of this diagnosis. This rare disease is often not thought of and many gynecologist obstetricians have never heard of it, making this case report of essential importance to reignite the interest in HLH, particularly when it occurs during pregnancy.

Background Umbilical cord prolapse is rare but a very serious obstetric emergency. Its incidence has declined over time and significant advances in its management have improved perinatal outcome. Case presentation A 38-year-old woman (gravida 3, para 0) conceived a dichorionic twin pregnancy through in vitro fertilization presented at 21 weeks of gestation with premature rupture of membrane of the presenting twin. At 21+4 weeks’ gestation, cord prolapse of the presenting twin into the vagina was identified by ultrasound. Parents chose conservative management, and planned cesarean section was done at 27+4 weeks. Conclusion Our case demonstrates that conservative management with measures to reduce the risks of infection and a planned delivery can result in positive outcomes even in cases where the cord prolapse occurs prior to viability.

Background Intrahepatic cholangiocarcinoma (ICC) is a rare form of cancer that has a poor prognosis with a 5-year survival rate for localized disease of approximately 15%. Case presentation This is a report of a case of cholangiocarcinoma (CC) diagnosed in pregnancy in a patient with an opioid use disorder. The patient is a 37-year-old G7P2042 who presented at 29 weeks of gestation with acute right upper quadrant pain along with jaundince, and changes to her urine and stool. Her workup revealed CC, a rare diagnosis in pregnancy. Approximately 6 months after the diagnosis of ICC the patient died. Conclusion Along with the management of this cancer in pregnancy, this case was further complicated by opioid tolerance and the difficulty in controlling the patient’s pain in pregnancy.

Background Intrapericardial teratomas are rare tumors arising from all three germinal layers. They are mostly benign but can lead to life-threatening complications. Case presentation A 38-year-old woman with an in vitro fertilization (IVF) conception had a normal fetal anatomical survey at 20 weeks of gestation. At 32 weeks, during evaluation for decreased fetal movements and gestational diabetes, the fetus was found to have a unilateral right pleural effusion, a large pericardial effusion with an 18 × 16 × 17 mm-sized cystic intrapericardial mass and ventricular dysfunction with associated, significant, polyhydramnios. Echocardiography was suggestive of a teratoma which was confirmed by pathology after postnatal surgery. Conclusion Early prenatal diagnosis and appropriate monitoring during pregnancy are important to optimize outcome, however, even though antenatal intervention may improve the outcome in cases with hydrops, in utero mortality remains high.

Background Uterine sacculation with a resulting uterine rupture is a rare complication in pregnant patients. Fibroids or a previous cesarean section increase the risk of severe complications such as a uterine rupture due to increased pressure and the elongation of the affected uterine segment. Prenatal clinical diagnosis and medical imaging of a uterine sacculation and rupture of the uterus remain challenging, even with the most modern imaging techniques. An early diagnosis is essential to reduce severe complications. Case presentation Here, we report the case of a 38-year-old female patient II G I P in the 19 th week of pregnancy with a ruptured uterine sacculation. Conclusion This case report is intended to raise awareness for the importance of the knowledge and supervision of a retroverted uterus in early pregnancy, especially after a cesarean section.

Postpartum hemorrhage (PPH) is an underestimated problem in labor and delivery units and remains a leading cause of maternal morbidity and mortality worldwide. Managing PPH starts with immediate recognition and intervention. Goal-directed massive transfusion protocol can be achieved by properly monitoring the maternal coagulation profile during severe obstetric hemorrhage. Conventional coagulation tests (prothrombin time, activated partial thromboplastin time, international normalized ratio, fibrinogen analysis, platelet count) have long turnaround times (occasionally >60 min and provide little information about the in vivo condition of hemostasis) compared to viscoelastic tests (VETs) (available results within 10–30 min). The outcome in actively hemorrhaging patients can be optimized by VETs, including thromboelastography (TEG), rotational thromboelastometry and Sonoclot, providing more individualized blood component therapy compared to traditional 1:1:1 ‘damage control resuscitation’ ratios of blood transfusion strategy. The main limitations of the efficacy of VETs include, but are not limited to, the lack of validation, not having well-established reference ranges for each patient group, results affected by fluid resuscitation regimes and consistent operator proficiency. Although there is limited data with the use of VETs in obstetric patients, the value of VETs is supported by guidelines with increasing evidence. This article will demonstrate two obstetric cases to evaluate the reliability of the TEG in the management of postpartum coagulopathies. The lesson we took from our two cases is presented.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder, acknowledged as the most debilitating form of chronic intestinal pseudoobstruction disorders. Because the disease is often fatal in the first years of life and the surviving individuals are dependent on supportive medical or surgical treatment, definite antenatal diagnosis is desirable. We report a case of prenatally diagnosed MMIHS and discuss the suspicious findings and diagnostic criteria that allow a rapid and definite prenatal diagnosis.

Fetal head entrapment by a uterine scar or adhesion is a rare obstetric complication. We present a case of a uterine constriction diagnosed in pregnancy that resulted in confinement of the fetal head to the lower uterine segment. The developing fetus ultimately suffered growth restriction of the head and was delivered after the mother experienced preterm premature rupture of membranes (PROM). Severe adhesions of the lower uterine segment were confirmed during the patient’s classical cesarean section.

Objectives Diprosopus is a rare subtype of conjoined twinning, with approximately 30 reported cases in English literature. Due to the rarity of conjoined twins, the mechanism leading to this developmental anomaly is not yet understood. Case presentation We present a case of diprosopus with multimodality imaging (prenatal and postnatal), and with pathological correlations. Developmental anomalies include partial duplication of frontal lobes, formation of a midline “third” frontal lobe, as well as orofacial and cardiac anomalies. The constellation of anomalies coincide with development during embryonic days 23–26, where the anterior prosencephalon, prechordal plate/oropharyngeal membrane, and cardiogenic plate are in very close proximity to each other. Conclusions This case offers an opportunity to better appreciate the radiologic and pathologic manifestations of diprosopus, and adds to the current body of evidence.

Objectives The incidence of vertically transmitted severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) could be higher than published. We feel that cases of SARS-CoV-2 vertical transmission are under-reported. Case presentation We report a case of SARS-CoV-2 in premature monochorionic monoamniotic twins born by caesarean section to an asymptomatic SARS-CoV-2 positive mother. Conclusions This case supports the potential for intrauterine transmission of SARS-CoV-2 as previously reported. The incidence of SARS-CoV-2 vertical transmission from reported cases is low; however this may be due to the difficulty disproving horizontal transmission or under-reporting of cases.

Objectives The spinal dysraphism and situs inversus are a rare association. Since 1909, reports on the coincidence of malformations of the spine and gastrointestinal tract have been published. So far there is no plausible explanation for the association. Case presentation We report a term female infant with spinal dysraphism with club feet associated with dextrocardia and situs inversus totalis. Whole genome SNP microarray analysis was normal. However, there are extended contiguous regions of allele homozygosity [>8 Mb[megabase]) observed in chromosome 6 and 14. Conclusions We report a rare association of spinal dysraphism and situs inversus totalis in a neonate. We review the literature. There have recently been theorized by some to in fact represent nothing more than the presence of two or more polytopic field defects, with all the anomalies present sharing a common molecular basis.

Objectives Congenital hemangiomas have been well documented, but there remains relatively little information regarding the workup of large or atypical vascular lesions in neonates beyond history and physical exam. Case presentation We report a case of a large congenital hemangioma overlying the anterior chest wall of a term male infant. Imaging by ultrasound and computed tomography (CT) scan confirmed the diagnosis of congenital hemangioma, either non-involuting or rapidly-involuting type. Further imaging supported a plan to manage this case conservatively. Conclusions We present a case of a giant congenital hemangioma overlying most of the chest wall of a term infant and describe the findings on physical exam and imaging, as well as a work-up of similar lesions.

Ojectives Transient neonatal Myasthenia gravis is a postsynaptic neuromuscular junction disorder seen in 10–21% of infants born to mothers with myasthenia gravis. Alemtuzumab is an anti-CD52 monoclonal antibody used in the treatment of multiple sclerosis. The possibility of developing Myasthenia gravis in a pregnant mother treated with Alemtuzumab is rare. Case presentation We report a case of transient neonatal myasthenia gravis following treatment with Alemtuzumab for multiple sclerosis in the mother. Conclusions Therapy with Alemtuzumab increases the risk of secondary autoimmune diseases including Myasthenia gravis.

Objectives Congenital pulmonary lymphangiectasia (CPL) is a rare but fatal disorder of the lung. Case presentation We describe the case of an extremely low birth weight (ELBW) infant who presented with severe respiratory distress and recurrent bilateral pneumothorax. He died on day 17. The post-mortem examination of the lungs showed numerous cystic spaces, ranging from 1 to 2 mm in size, in the visceral pleura, in the thickened interlobular septum and hilum. A diagnosis of primary CPL was made. Conclusions We intend to underline that CPL, albeit rare, must be one of the differential diagnoses in infants with severe neonatal respiratory distress not responding to intensive care. Chronic interstitial lung diseases are a challenging diagnostic clinical problem, which requires a multidisciplinary approach. Histological lung examination may be useful to demonstrate the presence of CPL.

Objectives To describe challenges in diagnosis and treatment of congenital Kaposiform hemangioendothelioma (KHE). Case presentation The neonate was born with an upper extremity vascular tumor and stable clinical state. His biopsy was inconclusive before discharge. At three weeks follow-up he presented with Kasabach-Merritt phenomenon (KMP), leading to the diagnosis of KHE, a rare locally aggressive vascular tumor that was managed with combination of steroids and mammalian target of rapamycin inhibitor (mTOR). Conclusions KMP in combination with the lesion biopsy can enhance KHE diagnosis, leading to successful treatment with mTOR inhibitor.

Objectives Agnathia-otocephaly complex (AOC) is an extremely rare, lethal disorder causing obstruction of the upper airway at birth due to absence of the mandible and hypoplasia of the oral cavity. Implications for future pregnancies need to be elucidated by parental counselling, as recurrence of AOC or associated comorbidities are possible. Very little is known on this subject, because of the rarity of the disorder and scarce data on genetic causes of this complex. The objectives of this study were to determine the recurrence risk and mode of inheritance for AOC based on current literature. Contents Recurrence of AOC or associated comorbidities within the family of an index case was reported in eight articles, describing 7 and 27 relatives, respectively. There were eight AOC cases in which the genetic cause was known. Mutations in 2 genes, orthodenticle homeobox 2 (OTX2) and paired related homeobox 1 (PRRX1), have been described. Due to its mainly sporadic appearance, recurrence risk is low. Counselling on recurrence risk is difficult, because of a broad heterogeneity with complex inheritance patterns and variability in phenotypic expression. Outlook Chromosomal analysis and exome sequencing in children with AOC will help unravel current aetiological uncertainties and could help in further reproductive decisions. We emphasize the need for timely diagnosis through ultrasound, providing parents with the opportunity to receive multidisciplinary counselling, giving them the chance to contemplate their management decisions.

Objectives Hypophosphatasia is a rare, inherited metabolic disorder characterized by low serum alkaline phosphatase activity. It is caused by mutations in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP) [1], [2], [3]. The degree of skeletal malformation varies, but the severe form carries a very poor prognosis. Case presentation This study reports a male neonate diagnosed with infantile hypophosphatasia (HPP). Genetic analysis showed two heterozygous missense variants at nucleotides c.977G>T (protein Gly326Val) and c.862+4A>G (IVS8+4A>G) (protein NA). The two mutations originated separately from the parents, consistent with autosomal recessive infantile HPP. The pathogenic variant was ALPL exon-9-heterozygous, and the other allele was ALPL IVS8-heterozygous, a variant of uncertain significance. Conclusions This case of infantile HPP was caused by two heterozygous mutations. One of those is a novel genetic mutation needed for further study. Genetic consultation is recommended for future offspring of affected parents.

Objectives Group-B streptococcus (GBS) continues to be a significant cause of late-onset neonatal illness. Rarely does it present as cellulitis-adenitis syndrome, and rarely does the infection recur in the same infant after complete recovery. Case presentation Here we report a case of recurrent late-onset cellulitis-adenitis GBS syndrome in a term 12-day-old neonate. The infant presented with fever and cellulitis of the right neck. Full sepsis workup was normal and the infant recovered completely with antibiotics. Three days after the completion of antibiotics the patient returned to the emergency department due to fever, toxic appearance and rapidly spreading cellulitis, and adenitis on the left side of the neck. Blood culture revealed GBS. The patient was re-admitted to the hospital and successfully treated with a prolonged course of antibiotics. Conclusions This case highlights the importance of treating neonatal cellulitis with fever as bacteremia, and reminds us of the rare possibility of recurrent invasive GBS disease. Moreover, this case illustrates that GBS cellulitis-adenitis syndrome is possibly underdiagnosed in mild cases. Physicians should be aware that neonatal cellulitis can precede the appearance of severe sepsis. Neonates with fever and cellulitis without a clear external port of entry should undergo a complete sepsis workup and receive antibiotic treatment appropriate for bacteremia, even if the blood cultures are negative. Although the recurrence of GBS sepsis is rare, physicians should be aware of this possibility in order to treat the infection early.

Objectives Though it is rare and challenging to study, neonatal hypertension (HTN) has been explored and studied by many pediatricians. There were some causes reported in preterm infants such as renal diseases and bronchopulmonary dysplasia. Case presentation We report a premature female infant who was born at a gestational age of 25 + 6 weeks and developed systemic hypertension on the day of a gestation age of 30 + 3 weeks. This case had a rare cause which involved high-normal serum aldosterone level that could possibly indicate hyperaldosteronism and over-stimulation of renin–angiotensin–aldosterone system (RAAS). We believe elevation of serum aldosterone was caused by a left-to-right shunt flow through a patent ductus arteriosus. Hypertension due to a patent ductus arteriosus sounds like a paradox. However, in our case, the shunt flow was shown to be a possible cause of the systemic hypertension. Surgical closure of the shunt was done and the hypertension resolved. We evaluated serum aldosterone levels and plasma renin activities both, before and after the closure to look for a possible cause. Conclusions Neonatologist often treats systemic hypertensive infants considering possible causes in order to prevent hypertensive crisis. Our case shows that possibility of hyperaldosteronism and (RAAS) over-stimulation should be considered as causes in case of severe systemic hypertension in preterm infants with large left-to-right shunt flows.

Background We describe a term neonate who was exposed to maternal mid-gestation infection with Babesia microti and prenatal antimicrobic treatment with quinine, azithromycin, atovaquone, and clindamycin. Case description The neonate was born with a “blueberry muffin rash” and was diagnosed with extramedullary hematopoiesis (EHM) after ruling out congenital infection and malignancy. At 8 months of age, he presented with M5 acute myeloid leukemia (AML) with a t(8:16)(p11;13) translocation. This translocation is described in adult patients with treatment-related AML, suggesting sensitivity of the genome to extrinsic toxicity. Conclusion We postulate that the biologic stress and treatment of maternal babesiosis played a role in the development of the rare form of AML seen in our patient.

Background Congenital high airway obstruction syndrome (CHAOS) is a rare disease and recently has been noticed to show typical prenatal images, such as hyperinflated lungs and flattened or inverted diaphragms. However, in some cases correct diagnosis may be difficult and in such cases the mortality rate increases. Case presentation We report four cases of CHAOS complicated with a high airway fistula to the alimentary tract and foregut malformation. The patients did not show the typical features of CHAOS in the fetus. This may be attributed to the high airway fistula acting as a decompression route for the accumulated lung fluids to the alimentary tract. Conclusion The combination of CHAOS, foregut malformation and a high airway fistula is very rare and classified into four distinct types: (1) CHAOS with a high airway fistula but not with a foregut malformation; (2) CHAOS with esophageal atresia and tracheoesophageal fistula; (3) CHAOS with a high airway fistula and duodenal atresia; and (4) CHAOS with esophageal atresia, tracheoesophageal fistula and duodenal atresia. It may be useful for treating physicians to be aware of these four distinct types and the typical characteristics of each type.

Background Aplasia cutis congenita (ACC) is a rare skin disorder characterized by a localized absence of skin at birth. It has been linked to both assisted reproductive technology (ART) and feto-reduction procedures. Group V ACC presents with a distinct, symmetrical distribution pattern. It is thought to result from an insult to the fetus after concomitant twin demise and is almost exclusively reported in monochorionic gestations. Case presentation We report a rare case of Group V ACC in a dichorionic, triamniotic (di-Tri) triplet in-vitro fertilization (IVF) pregnancy subsequent to feto-reduction. The lesions were managed conservatively. Conclusion ACC in multi-fetal pregnancies is a rare, but widely described complication. With increased incidence of ART-associated pregnancies and the use of feto-reduction for multiple pregnancies, this may become a more common phenomenon. Neonatologists and obstetricians should be aware of this complication and counsel their feto-reduction patients on the risks. This case is interesting because, to the best of our knowledge, there have been only nine reported cases of Group V ACC in triplet or higher order gestations.

Background Prenatally detected oligo- or even anhydramnios may – beside other reasons – be indicative for a diminished or absent urine production. The resulting clinical picture is a “Potter sequence” with arthrogrypotic joint contractions, a flat face and most importantly pulmonary hypoplasia. In severe cases this pulmonary hypoplasia can be life-limiting irrespective of the underlying lesion. Case presentation Our patient initially presented with anhydramnios and normal kidneys at external ultrasonography after 31 weeks of pregnancy. Following spontaneous birth after 37 weeks of gestation, the baby boy was born with all the clinical signs of a “Potter-sequence” along with a severe pulmonary hypoplasia leading to insufficient oxygenation and ventilation. Despite all measures taken, the child died after 8 h of life. Beside life-limiting pulmonary hypoplasia postmortem examination again confirmed macroscopically normal kidneys, but microscopy showed compact and variable sized glomeruli, numerically reduced and immature tubules, a structurally altered renal vascular bed and an expanded medullar interstitium. Immunohistochemical studies revealed the absence of proximal convoluted tubules, shortened proximal straight tubules beside an immaturity and dysmorphogenesis of the other segments of the nephron, and thus proved renal tubular dysgenesis (RTD) as the underlying disease. A homozygous mutation c.377G>C (p.Arg126Pro) in exon 2 of the AGTR1 gene was found, leading to the exchange of a highly conserved arginine to proline. This mutation has not been reported in public databases so far. As expected, both consanguineous parents were heterozygous for this mutation. Conclusion RTD has to be considered in an anuric fetus with apparently normal renal sonography in order to allow adequate prenatal counseling and – if indicated – palliative postnatal care.

Background Congenital tumors, including mesenchymal rhabdomyoma, are highly infrequent. The combination of a congenital tumor and rhabdomyoma is rarer yet, even more so when primary origin is in the heart. Case presentation We present a case of fetal hydrops fetalis, wherein the post-mortem exam revealed a cardiac tumor more than twice the size of the heart itself; histological study confirmed primary rhabdomyoma involving the left ventricle. Conclusion It is essential to keep in mind that fetal tumors should always be differentiated from malformations; in fetuses tissue immaturity must be taken into account for categorization; despite benign labeling, they can be lethal.