Volume 12, Issue 1

Objectives Hydrometrocolpos is a pelvic cystic mass representing the distension of the vagina and uterus due to obstructive congenital anomalies of the female causing accumulation of fluid secretions in the vagina and endometrial cavity. Prenatal diagnosis is uncommon and usually noticed during the adolescent period for failure to see menses with cyclic abdominal pain, abdominal mass, and local compressive symptoms. Late diagnosis after delivery of newborns with this condition results in poor outcomes from local compressive symptoms. Case presentation Here, we present a case diagnosed with congenital hydrometrocolpos at 39 weeks of gestation during routine third-trimester ultrasound scanning. The newborn was delivered vaginally and huge hydrometrocolpos secondary to imperforate hymen was diagnosed postnatally, and a hymenectomy was done and the newborn was discharged and improved from the hospital. Conclusions Although congenital hydrometrocolpos occurs rarely, it is also better to suspect prenatally in a female fetus with a cystic pelvic mass. Antenatal ultrasound diagnosis of this condition will help to make decisions early and to prevent further complications which might occur both intrauterine and after birth.

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 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 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.

Objectives Rhinoliquorrhea is a condition where cerebrospinal fluid (CSF) leaks due to a liquor fistula formation of traumatic or non-traumatic origin. It can be associated with increased intracranial pressure often due to idiopathic intracranial hypertension (IIH), typically found in young and obese female patients. Case presentation A 27-year-old woman, 2 gravida, 1 para, presented with clear rhinorrhoea. After a beta-trace-protein test the diagnosis of CSF leakage was determined. The woman had had a traumatic car accident in 2018 but had never developed clear rhinorrhoea, especially not in her first pregnancy after the accident. Due to stable condition of the mother further diagnostics were postponed until after the birth. An elective caesarean section was performed in 40 + 0 weeks of gestations. The structural bone defect in the posterior wall of the sphenoid sinus was surgically repaired by defect coverage postpartum. Conclusions Nasal CSF leakage in pregnancy has previously been described in four other case reports with mostly traumatic etiology. Additionally, IIH is an important diagnosis to keep in mind. So far there are no guidelines or evidence-based recommendations regarding to optimal fistula treatment of pregnant women available. For therapy a prophylactic antibiotic therapy, surgical reconstruction with sealing and a wait-and-see strategy should be considered and discussed.

Objectives This article outlines a process for differentiating preeclampsia from other potential causes of end-organ damage in a critically ill patient. Case Presentation A patient in her early 30s, G2P1001 with intrauterine pregnancy at 12 weeks’ gestation was admitted seven months after delivering her first child due to new-onset psychosis and starvation ketosis. She was started on lithium for postpartum psychosis at 20 weeks’ gestation. She subsequently developed respiratory failure at 26 weeks’ gestation due to aspiration pneumonia in the setting of lithium toxicity, requiring admission to the intensive care unit (ICU) and intubation. She received antibiotics and vasopressors for suspected septic shock in addition to dialysis for lithium-induced acute kidney injury. One week after ICU admission, her sepsis resolved, her serum creatinine levels returned to normal, and her respiratory status improved. However, after vasopressors were discontinued, she suddenly developed persistently elevated blood pressures with proteinuria and elevated liver function tests (LFT’s). Due to concern for preeclampsia with severe features and rapidly increasing LFT’s, the patient underwent cesarean delivery at 27 weeks’ gestation. Conclusions In a critically ill patient with multiple comorbidities, it can be difficult to diagnose preeclampsia using the standard criteria. It is important to exclude other potential etiologies, as a misdiagnosis can have potentially devastating consequences.

Objectives Fraser syndrome is a rare congenital malformation characterized by cryptophthalmos, syndactyly and urogenital tract malformations. The association with hydrometrocolpos is infrequent, with only a few cases reported in the literature. Case presentation A 19-year-old primigravida presenting at 35 weeks of gestation, with prenatal finding of hydrometrocolpos associated with hypotelorism and microphthalmia. Pre-term cesarean delivery was performed due to breech labor and perinatal death. The autopsy confirmed hydrometrocolpos secondary to vaginal atresia and imperforate hymen, associated with cryptophthalmos, syndactyly, nasal and pinna malformations, confirming the diagnosis of Fraser syndrome. Conclusions Fraser syndrome is usually a postnatal diagnosis. The association with genital abnormalities explains the finding of hydrometrocolpos, which could be considered a diagnostic criterion for this syndrome.

Objectives The congenital embryonic tumor known as sacrococcygeal teratoma (SCT) affects 1 in 35.000–40.000 newborns and is more prevalent in female fetuses and neonates. A total of 25–50% of SCTs are diagnosed by an ultrasound (US) examination during the second trimester of pregnancy. Planning the manner of delivery, determining the risk of negative outcomes, and choosing treatment options depend on the results of antenatal differential diagnosis. Case presentation This is a unique case of a 29-year-old second gravida, suspected of having a fetal sacrococcygeal dysplasia differentiable between Type 2 SCT and terminal myelocystocele. An MRI revealed no typical SCT changes, as a matter of course, the diagnosis of myelocystocele could not have been excluded. The results of the genetic examination allowed to exclude the chromosomal pathology. Punctuation of the external component of the formation and a cytological examination were suggested. Nevertheless, the patient and her partner refused further studies and insisted on the termination of pregnancy. Medical abortion was induced and histological findings confirmed fetal morphology to be mature SCT. Conclusions Cystic sacrococcygeal teratoma is an unusual malformation of fetal development. In the antenatal period SCT is diagnosed based upon an ultrasound evaluation, an MRI, and a multidisciplinary assessment of clinical experts. Differential diagnosis based upon clinical imaging during the gestational period is elaborate. The final medical diagnosis needs to be verified by a histological evaluation of pathological tissue. An antenatal medical diagnosis of fetal dysplasia is considerable for the further prognosis of fetal and newborn development.

Objectives Uterine artery pseudoaneurysm (UAP) is a rare but sinister complication during pregnancy. Diagnosis can be made by color Doppler ultrasound. Previous abdominal- and obstetric surgery increase the risk for UAP formation. Case presentation We present a case of a 36 year young healthy women, presenting at 27 weeks of gestation with acute lower abdominal pain. UAP was detected by color Doppler ultrasound. An endovascular coil embolization was performed, with good maternal and fetal outcome. Furthermore, a review of the literature looking at UAP embolization in pregnancy was performed. Conclusions UAP is reported to appear as a complication of endometriosis. UAP should be treated by endovascular coil embolization, which is a safe and with almost 100% success rate an effective treatment during pregnancy.

Objectives Although placental chorangiomas are often asymptomatic, larger tumors (>4–5 cm) can cause various perinatal complications, including polyhydramnios, preterm birth, fetal anemia, fetal hydrops, and intrauterine fetal death. Symptomatic placental chorangiomas are often diagnosed prenatally on ultrasonography as a mass on the fetal side of the placenta. Case presentation A 37-year-old pregnant woman underwent emergency cesarean delivery at 34 weeks’ gestation due to rapidly progressive fetal hydrops leading to fetal dysfunction, resulting in neonatal death. Placental pathology indicated multiple placental giant chorangiomas that occupied 40% of the placenta. Because of the disk shape of the placenta, prenatal diagnosis by ultrasonography was difficult. Conclusions Some placental chorangiomas are difficult to diagnose and lead to fetal hydrops and poor prognosis, even if ultrasonography does not show an obvious mass in the placenta.

Objectives Pregnancy associated atypical hemolytic uremic syndrome (p-aHUS) is a rare condition of thrombotic microangiopathy (TMA) which causes an increase of fetal and maternal morbidity and mortality. It presents typically with a triad of microangiopathic hemolytic anemia (MAHA), thrombocytopenia and acute progressive renal failure. Differential diagnoses of HELLP (Hemolysis, Elevated Liver enzymes, and Low Platelets) syndrome, preeclampsia, thrombotic thrombocytopenic purpura (TTP), and disseminated intravascular coagulation (DIC) syndrome must be considered. In the following case report, presented is a 32-year-old, 38 weeks pregnant Caucasian woman admitted to Eberswalde Hospital with signs of preeclampsia and HELLP Syndrome. Caesarean Section was performed due to HELLP syndrome and fetal distress. Acute renal failure occurs shortly after a successful delivery. After a diagnosis of p-aHUS is established, the patient was given Eculizumab, which yielded significant improvements. Case presentation A 32-year-old, 38 week pregnant Caucasian woman was admitted to Eberswalde Hospital with upper right abdominal pain. After a laboratory examination, a diagnosis of HELLP syndrome was established and a Caesarean Section was performed. The follow-up examination revealed deterioration of clinical signs with the patient experiencing dyspnea, oliguria, and oedema, as well as aggravation of laboratory values, ranging from severe thrombocytopenia, hemolytic anemia, liver injury, and acute kidney injury. After excluding other possible causes of TMA, a diagnosis of p-aHUS was established and a treatment with Eculizumab was administered. Clinical and laboratory signs of hemolysis and kidney functions were found to improve gradually after two administrations of Eculizumab. The patient was discharged after 20 days of hospitalization with significantly improved condition and hematological values. Conclusions A successful treatment of p-aHUS requires a comprehensive assessment and a prompt diagnosis, which can be confounded by multiple similar differential diagnoses. Treatment with Eculizumab was found to significantly improve the outcome of the patient, but more studies are required to decide on a standardized regiment for p-aHUS.

Objectives Gitelman syndrome is a rare salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene, which is expressed in the distal convoluted tubule and accounts for 5–10% of renal sodium reabsorption. Atypical symptoms and insidious conditions generally delay diagnosis until childhood or even adulthood. Here, we report the case of a 22-year-old Chinese woman who was admitted to our endocrinology department for severe hypokalemia during pregnancy. Case presentation The patient had no specific symptoms but exhibited hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, hyperreninemia, hyperaldosteronism, and normal blood pressure. Together, these symptoms indicated the clinical diagnosis of Gitelman syndrome, which was confirmed by genetic analysis. Many drugs have limited safety data during early pregnancy, and optimum potassium and magnesium levels are necessary for a successful pregnancy. Conclusions Diagnosis and management of Gitelman syndrome are crucial during pregnancy to ensure the safety of the mother and fetus, especially during the first trimester.

Objectives This article outlines an unusual presentation of a premature infant born from a pre-eclamptic mother born with a presentation resembling a disseminated intravascular coagulation syndrome. Case presentation Pregnancy-induced hypertension, also known as pre-eclampsia, and premature birth pose significant risks to neonates, making the fetus more susceptible to immunodeficiencies and coagulopathies. This article highlights a premature infant born to a pre-eclamptic mother with multiple complications. Our case involved jaundice, neonatal meningitis, thrombocytopenia, leukopenia, neutropenia, hemorrhage, apnea, gastrointestinal defects, and periventricular leukomalacia. Often these complications are seen immediately after birth; these symptoms may present after a certain amount of time lapses if the neonates if afflicted with malignancy or a viral, fungal, or bacterial infection. Here we describe the case of a premature neonate born to a preeclamptic mother that experienced these complications one day after her birth. Conclusions This is the first known case of an infant experiencing a “DIC-like” syndrome without any diagnosis of a primary hematological malignancy or infection after a certain amount of time had lapsed since her birth. As complications in premature infants as well as those from pre-eclamptic mothers are common, this case report highlights a successful model of care. We also explore the effect of a peri-COVID setting on the presentation of this patient, as similar cases have occurred post-COVID-19.

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 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 Fetus-in-fetu is a rare congenital anomaly that occur secondary to abnormal embryogenesis in a diamniotic monochorionic pregnancy. Its diagnosis can be accurately made by imaging ultrasonography, radiography, computed tomography, or magnetic resonance imaging. Differential diagnosis is an important issue because FIF, teratoma and cystic meconium peritonitis are very different in terms of their respective disease courses. Case presentation This is an interesting rare case of a 22-year-old pregnancy woman, presented for a routine antenatal ultrasound. The diagnosis of a fetus-in-fetu was suspected, complete surgical excision of the lesion was performed and the diagnosis was histopathologically confirmed Conclusions We describe also the common characteristic of FIF as revealed by prenatal and postnatal US, postnatal MRI, and the operative findings.

Objectives Neonatal compartment syndrome (NCS) occurs when increased pressure within the fasciocutaneous compartment decreases capillary perfusion, causing irreversible tissue damage from ischemia. NCS is a rare condition that requires prompt diagnosis and treatment. Diagnosing NCS is highly dependent on the examination, which can be difficult in newborns. Prompt recognition provides the best chance for good outcomes. Case presentation We present a case of NCS diagnosed and treated based on physical examination findings. Fetal ultrasonography showed bladder distension, bilateral hydroceles, urethra dilation, and abdominal urinary ascites concerning for lower urinary tract obstruction and possible bladder rupture. At 1 h after birth, examination of the infant’s left upper extremity showed no spontaneous movement, the hand and forearm appeared dusky, and the hand had a large blister with desquamation. No pulse distal to the antecubital fossa was detected via Doppler ultrasonography. The infant was diagnosed with NCS and underwent urgent fasciotomy. The clinical appearance and perfusion of the left upper extremity gradually improved. At four months of age, the wounds were healed and the patient had full passive range of motion of the left upper extremity. Recovery of active motion is ongoing. Conclusions The presence of blistering and desquamation should provoke suspicion for NCS. Once NCS is diagnosed, prompt intervention is necessary to reduce the risk of poor functional outcomes. This case highlights the need for increased awareness of the risk developing compartment syndrome in utero as part of the rare sequalae in infants with congenital anomalies of kidney and urinary tract.

Objectives Gross hematuria is rare in the neonate and requires prompt etiology evaluation and intervention. This article aims to draw attention to adenovirus as a cause of hematuria in newborns. Case presentation We present the case of a newborn admitted to the neonatal unit after birth with respiratory distress. Empiric treatment with ampicillin and gentamicin was initiated. He presented a favorable clinical and laboratory course with decreasing inflammatory parameters. On day 7 gross hematuria was detected and the urinalysis revealed red blood cells, trace of proteins and leukocytes. Cefotaxime was added after urine and blood cultures. Doppler ultrasound showed bladder sediment with no signs of renal venous thrombosis and the cultures were negative. There was a progressive improvement of gross hematuria with resolution on day 16. Urine adenovirus PCR was positive and the diagnosis of adenovirus hemorrhagic cystitis was made. Conclusions Adenovirus should be considered as a potential etiology if clinical symptoms and urinalysis are suggestive of infection, but the urine culture is negative and ensuring that all other possible causes of hematuria are ruled of. As far as the authors know, this is the first case report of a newborn with adenovirus hemorrhagic cystitis.

Objectives We aim to report a case of Donohue syndrome (DS) which is a rare genetically encoded, autosomal inherited recessive disorder linked with severe insulin-resistant diabetes. Case presentation We hereby report a case of a 4 month -old girl infant with DS. The patient exhibited dysmorphic facial features, severe growth retardation, fasting hypoglycemia, postprandial hyperglycemia, and hyperinsulinemia which are the hallmarks of DS. The diagnosis of DS was confirmed by genetic analysis. The patient was treated with high-dose insulin and frequent nasogastric formula milk feeding to achieve reasonable glycemic control. Conclusions We reported a typical case of DS in a 4-month-old female infant characterized by peculiar dysmorphic features and failure to thrive. She also fulfilled the biochemical criteria of fasting hypoglycemia, postprandial hyperglycemia, and severe hyperinsulinemia. The diagnosis was confirmed by a molecular genetic study. Our patient achieved reasonable glycemic control after treatment with high-dose insulin.

Objectives Intrauterine testicular torsion is extremely rare and the exact cause remains largely unknown. It is the result of an ischemic insult intrauterine, which presents as either extra-vaginal or intravaginal testicular torsion. Urgent surgical exploration and fixating the contralateral testis is key in the management of this condition. Case presentation We present here the case of a two-day old neonate with in-born right scrotal swelling admitted at Children’s hospital. The patient was born at term via cesarean section at a private hospital. Upon arrival in the emergency department, he was well hydrated, pink at room temperature with good perfusion. Upon examination, the right testis was found to be enlarged, tense, non-tender visibly reddish with overlying skin excoriation. Trans-illumination was negative in right but positive in the contralateral testis. Both hernial orifices were normal. Doppler ultrasound of the inguinoscrotal area found the right testis to be enlarged (15.6*9.4 mm) and showed heterogeneous hypoechoic texture with prominent rete testis and no flow on color doppler analysis. An urgent scrotal exploration was undertaken. Intra-operatively there was frank necrotic right testis with intravaginal torsion of the testis and minimal hydrocele. A right orchidectomy and contralateral orchidopexy were performed. Conclusions Intrauterine testicular torsion should be treated as a surgical emergency. We advocate early recognition of intrauterine testicular torsion, alongside surgical exploration and simultaneous contralateral orchidopexy.

Objectives Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis and Franceschetti-Zwahlen- Klein syndrome, is an autosomal dominant disorder of soft tissue and the craniofacial bones. In most cases, TCS is the result of a mutation in the TCOF1 gene. The incidence is estimated to be between 1/10,000 and 1/50,000 live births. Our purpose was to describe a case report of patient with TCS born in the Department of Neonatology at the Pomeranian Medical University in Szczecin (Poland) and his family with short review of literature. Case presentation Clinical abnormalities which were found after birth mainly affect the head – hypoplasia of the cheek bones and the zygomatic bones, micrognation, deformed auricles with undeveloped external auditory canals, retrognathia of the mandible, cleft hard and soft palate and narrow palpebral fissure. Conclusions The treatment of children with TCS is long-term. Patients require a series of reconstructive and plastic surgical procedures. Our patient presented the complete form of TCS. There are multiple surgeries awaiting him, which, eventually, will improve his quality of life.

Objectives Neuroblastoma (NB) is one of the most common tumor during perinatal period. The clinical features of NB occurring in fetuses and neonates differ from that in the older age groups. Frequently, Congenital neuroblastomas are incidentally detected prenatally. Clinical presentations of NBs in neonates are highy variable. Case presentation A 24-day old preterm 32 weeks’ gestation male neonate developed cholestasis that lead to the diagnosis of stage MS neuroblastoma. There was no NB primary site identified. Conclusions To the best of our knowledge, this is the first case report of metastatic NB (Stage MS) in a preterm neonate presenting with cholestsis but without any identifiable adrenal or extra-adrenal primary.