Volume 2, Issue 1-2

Introduction: Disseminated intravascular coagulation (DIC) is a serious complication of obstetric emergencies, and its clinical manifestation occurs in various organs and tissues. Ocular and orbital involvement has been reported only rarely. Presentation of the case: A 15-year-old primigravida complained about loss of vision in the right eye for 3 days. Magnetic resonance imaging showed a retrobulbar hemorrhage. A first diagnosis of pregnancy (estimated gestational age of 23 weeks) was made, and intrauterine fetal death was diagnosed by ultrasound examination. Laboratory workup revealed the diagnosis of DIC. Due to massive vaginal bleeding a cesarean section was performed, and placental abruption was diagnosed intraoperatively. Discussion: The concomitance of intrauterine fetal death and other obstetric complications such as placental abruption might induce a fulminant coagulopathy with severe consequences even with uncommon organ localization.

Background: Antithrombin III deficiency is an inherited thrombophilia that places pregnant patients at an increased risk of venous thromboembolism and adverse outcomes in pregnancy. Antithrombin III-deficient patients undergoing obstetric procedures may benefit from antithrombin III infusions during labor and delivery. Case: The patient is a 32-year-old G2P1000 with known antithrombin III deficiency and factor V Leiden heterozygosity with a prior intrauterine fetal demise. The patient was managed with therapeutic enoxaparin until 37 weeks’ gestation when she was changed to IV heparin and plasma-derived antithrombin III. She underwent successful induction of labor, epidural anesthesia, and had an uncomplicated vaginal delivery. Conclusion: Plasma-derived antithrombin III can be used intrapartum for successful delivery in a patient with antithrombin III deficiency.

Background: Preeclampsia is associated with alterations in maternal vascular permeability and can thus cause intravascular volume depletion and pathologic extravascular fluid accumulation. Although typically manifesting as peripheral edema or, in more severe cases, non-cardiogenic pulmonary edema, preeclampsia-associated vascular abnormalities can theoretically cause abnormal fluid collection in any extravascular space, including the pericardium. Case: We report the case of a 30-year-old gravida 1 female admitted at 31 weeks 4 days’ gestation with mild preeclampsia, tachycardia, and dyspnea, whose initial workup was only significant for a small pericardial effusion. Over the course of the next 4 weeks, however, the effusion evolved into early cardiac tamponade that required expeditious pericardiotomy and cesarean delivery. The effusion virtually resolved over the first month postpartum. Conclusion: The case describes a unique presentation of preeclampsia and suggests that echocardiography to evaluate for pericardial effusion be considered in cases of otherwise-unexplained cardiopulmonary symptoms in the setting of preeclampsia. If detected, cardiac tamponade should be managed in association with a multidisciplinary team familiar with the physiology of cardiac tamponade.

Rectus sheath hematoma is an uncommon and often clinically misdiagnosed cause of abdominal pain. We report such a case of a 42-year-old woman who developed an abdominal-wall hematoma at 32 weeks of gestation. Initially, she was suspected as having a complicated ovarian tumor associated with pregnancy, because of the intense abdominal pain. Both ultrasound and magnetic resonance imaging proved to be useful in diagnosing rectus sheath hematoma. A conservative management was applied for the rectus sheath hematoma and the patient recovered uneventfully. Although it is a very rare entity, rectus sheath hematoma should be included in the differential diagnosis of every pregnant patient who presents with abdominal pain.

Introduction: The association of Budd-Chiari syndrome (BCS), Crohn’s disease (CD) and pregnancy is extremely rare. The successful medical treatment of BCS in the postpartum period in a woman with CD is presented. Case report: A 28-year-old woman with CD presented with fever of 42°C and gross abdominal distention 2 days following delivery. On sonographic examination, massive ascites and hepatosplenomegaly were noted. Color Doppler ultrasonography and contrast-enhanced computed tomography revealed a thrombus in the suprahepatic inferior vena cava causing significant luminal obstruction. She was diagnosed with BCS. Medical treatment with spironolactone, furosemide, imipenem, metronidazole, and enoxaparin improved the clinical picture. Conclusion: In a pregnant woman with CD, extreme thromboembolic events such as BCS might occur. If diagnosed early and treated in the acute phase, prognosis is fair.

Postpartum takotsubo cardiomyopathy is a rare phenomenon caused by stress-induced, elevated levels of catecholamines and vasoconstrictive agents or by the administration of vasoconstrictive drugs such as bromocriptine and ergotrates. The condition has only been described in the past 20 years. The usual clinical course is complete resolution, although maternal mortality is estimated at 1%. An equally rare condition is postpartum reversible cerebral vasoconstriction syndrome. Like postpartum takotsubo cardiomyopathy, the etiology of postpartum cerebral vasoconstriction syndrome is thought to involve stress-induced, elevated levels of catecholamines and vasoconstrictive agents. Also, like postpartum takotsubo cardiomyopathy, the usual clinical course is complete resolution. This is the first reported case where both of these rare conditions occurred in the same patient after spontaneous vaginal delivery.

Head and neck cancer in pregnancy is a rare disease and difficult to manage. Few case reports exist in the medical literature. We present the case of a pregnant woman with squamous cell carcinoma of the oral cavity. While initial management in the general population may consist of surgery and, if not possible, concomitant chemotherapy and radiation, these modalities were not an option for this patient given her pregnant state. As an alternative, she was treated through gestation with neoadjuvant chemotherapy. She experienced significant reduction in tumor size and associated symptoms, and fetal growth remained normal and there were no fetal myelosuppresive effects noted at birth. Risks of chemotherapy and radiation in pregnancy are reviewed.

Aim: To report on a pregnant woman with peripartum cardiomyopathy 7 years after combination chemotherapy with doxorubicine and radiation of cancer of the left breast. Case: A 35-year old primigravida who was treated 7 years earlier with cancer of the left breast (ympT1c, ypN0, cM0), according to a neoadjuvant study protocol (GeparTrio), was transferred to our unit due to HELLP syndome at 35+5 weeks. Symptoms of cardiopulmonary decompensation occurred shortly after cesarean delivery of a healthy newborn. The patient was admitted to cardiac intensive care and treated with oxygen, diuretics and ACE inhibitors. Maternal left ventricular ejection fraction recovered within a few weeks without any surgical interventions and remained stable within 1 year of follow-up. Conclusion: The association between radical primary treatment of the left breast and life-threatening cardiac disease could possibly be provoked by pregnancy.

Prenatal diagnosis of kidney disease has been greatly increased due to the improvement of antenatal ultrasound techniques, even if a level of uncertainty in differential diagnosis still leads to difficulties in the prediction of fetal outcome and in the counseling of parents. We have followed with ultrasound a 36-year-old secundigravida, referred for fetal renal ultrasound evaluation because of enlarged bilateral cystic kidneys and anhydramnios. Karyotype was normal (46,XY). On the 21 st week, the kidneys were slightly enlarged with normal morphology. Beginning with the 28 th week, repeated scans showed a reduction of amniotic fluid and an increasing number of renal cysts. Pregnancy was followed to the 37 th week when fetal death occurred without warning. Postmortem gross examination showed bilateral enlarged kidneys and histology-defined diffuse mesangial sclerosis with poorly developed cortex and renal dysplasia with multiple cysts. This is an unusual case of multiple renal congenital abnormalities difficult to interpret and which made necessary a multidisciplinary approach due to its complexity. Nevertheless, etiology was not defined. The broad spectrum of antenatal manifestation of prenatally onset kidney diseases requires the identification of more prognostic signs to define fetal outcome and improve parental guidance.

We present the prenatal detection of a 1p32.1p31.3 microdeletion (3.46 Mb) by array comparative genomic hybridization (CGH) associated with fetal agenesis of the corpus callosum (ACC) and cerebellar vermian hypoplasia. Analysis of cultured amniocytes showed a normal karyotype. Our observations strengthen the association between this locus and central nervous system development. In addition, the fetus reported herein underscores the importance of array CGH analysis when ACC is detected prenatally, especially when there are additional central nervous system anomalies, to search for submicroscopic imbalances which can facilitate further management and parental counselling. Moreover, the presence of urinary tract anomalies should alert the clinician to the possibility of a 1p interstitial deletion, although the absence of such does not exclude it. Further reports will help to provide more information on the long-term outcomes of individuals with such microdeletion as there are only limited data.

Increased nuchal and perinuchal translucency in euploid fetuses can be due to a wide range of congenital malformations, metabolopathies or syndromes. We present a case of transient increased perinuchal fluid accumulation in a euploid female fetus that showed no anomalies in the morphological ultrasound scan on the 20th week of gestation. The lymphatic fluid accumulation resolved spontaneously but hydrothorax developed at week 29 of pregnancy. The hydrops recurred despite the placement of a pleuro-amniotic shunt, and the gestation ended in premature delivery and early neonatal death due to massive hydrops. Necropsy revealed pulmonary lymphangiomatosis. This disease had not been previously related to increased perinuchal translucency in a euploid fetus.

Background: Pfeiffer syndrome (PS) is one of several related craniosynostosis and occurs in 1 out of every 100,000 births. The diagnosis has historically been based on the clinical neonatal findings of bilateral coronal craniosynostosis, midface hypoplasia, with broad thumbs and great toes. Case: A craniosynostosis suggestive of PS was identified on prenatal ultrasound at 34+3 weeks gestation by findings of polyhydramnios, a cloverleaf skull, ventriculomegaly, hypertelorism, marked orbital proptosis, short limbs, broad digits, and an abnormality of the spine. Prenatal molecular testing of the FGFR genes revealed an exon 10, p.Y340C mutation in the FGFR2 gene. Conclusion: PS can now be diagnosed prenatally. In our case, the specific mutation was associated with an especially severe phenotype. The ultrasonographic findings in conjunction with the molecular diagnosis allowed us to better inform the patient and medical staff about the diagnosis and prognosis.

We report a case of isolated agnathia, detected at 21+4 weeks’ gestation by two and three-dimensional (3D) ultrasound when routine morphological scan was performed. The scan showed an alteration of the fetal profile suggesting mandible agenesis, as well as cleft lip and palate, and low implantation ears. No midline alterations were found. Midsagittal sections of the fetal profile and 3D imaging supported the diagnosis of agnathia, and also improved the genetic counseling. The parents decided to terminate the pregnancy. The fetal necropsy confirmed the findings, which correlated with the 3D ultrasound.

Background: Pericardial effusion and cardiac tamponade are known to be rare but potentially fatal complications of umbilical venous catheterisation, even when the line tip is appropriately placed and is proximal to the right atrium. Highlight of case: We report a fatal case of cardiac tamponade due to the presence of pericardial total parenteral nutrition associated with bilateral pleural effusions in an extremely low birth weight neonate with an umbilical venous catheter. Conclusion: It is important to promptly identify and treat this rare but devastating complication of what is often considered “routine” care. Timely pericardiocentesis should be considered in a preterm baby who deteriorates suddenly and has a central venous catheter in situ .

We describe a case of congenital cytomegalovirus (CMV) infection transmitted by an immunocompetent woman infected before conception with continuous hyper CMV-immunoglobulin M (IgM). A 33-year-old woman whose CMV-IgM levels were stable more than 8 months before conception was referred at 35 gestational weeks due to fetal unilateral cerebral ventriculomegaly. The maternal serum CMV-IgG was 61.7 U/mL, and the CMV-IgM was 3.89 U/mL. An infant girl weighing 2297 g was delivered transvaginally. The neonate was found to have congenital CMV infection. After delivery, the high maternal CMV-IgM level has continued for more than 2 years. In conclusion, although continuous hyper CMV-IgM is rare, the infants of infected women may develop congenital infection. It is our hope that the information provided in the present case will further aid clinicians in counseling patients who find themselves in this situation.

Aloe vera is a plant that is commonly used as an alternative or complementary medicine. We present a case in which we believe maternal consumption of an aloe vera cordial led to toxic colitis in her breastfeeding infant. To our knowledge, a similar case has not been previously reported.

A term male infant was delivered by normal vaginal delivery following an uneventful pregnancy. He presented at 3 days of age with jaundice, weight loss, and poor feeding. He rapidly deteriorated with hypotonia, seizures, a tense fontanelle, and depressed conscious level. A cranial ultrasound scan showed moderate lateral and third ventricular dilatation, with no visible fourth ventricle. Doppler measurements showed absent diastolic flow, confirming markedly raised intracranial pressure. Cerebrospinal fluid pressure was markedly elevated and coagulation profile showed a specific prolongation of the activated partial thromboplastin time. Factor VIII assay confirmed haemophilia and a computed tomography scan showed a posterior fossa haemorrhage that was effacing the fourth ventricle and causing an acute hydrocephalus. He was managed with cerebrospinal fluid drainage and recombinant factor VIII concentrate. Posterior fossa haemorrhage is an unusual cause of acute high pressure hydrocephalus in the term neonate. Haemophilia should be considered as a cause of unusual intracranial haemorrhage in term neonates.

A preterm neonate developed catheter-related central venous and dural sinus thrombosis. Superior vena cava (SVC) obstruction caused significant bilateral chylothoraces and SVC thrombotic obstruction led to generalized anasarca and multiple organ failure. Six weeks after the diagnosis of SVC and sagittal sinus occlusion and chylothoraces, the infant expired. We report a rare case of a chylothoraces secondary to SVC obstruction, and superior sagittal sinus thrombosis in a preterm neonate, and review the literature.

This report describes a baby with trisomy 13 (Patau syndrome) with imperforate anus. It is very unusual for Patau syndrome to be associated with anorectal malformation. In the English medical literature, there are only four reported cases of trisomy13 being associated with imperforate anus: a partial trisomy of chromosome 13q and 20p [Nagai et al. Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p. Clin Genet. 1994;45:272–3.], a mosaic form [46,XX,t(13q13q)/46,XX,–13,+r(13)] (Jalal et al. Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring. Ann Genet. 1990;33:173–5.) of trisomy 13, a third case in which the form of trisomy 13 was not described (Cho et al. One hundred three consecutive patients with anorectal malformations and their associated anomalies. Arch Pediatr Adolesc Med. 2001;155:587–91.) and a fourth case of trisomy 13 with a Robertsonian translocation of the extra chromosome 13 to chromosome 14 (Lewis and Lander. Trisomy 13 is associated with anorectal malformations. Arch Dis Child. 2007;92:185.).

Appendicitis is the most common cause of acute abdominal pain requiring surgical intervention in children, but it is very rare in infants and neonates. Nonspecific clinical features and low index of suspicion make its diagnosis and management particularly challenging, which may result in high chances of complications such as perforation and peritonitis, thus increasing morbidity and mortality. We present the case of a female late preterm newborn with bloody stools and bilious gastric aspirates on the second day of life. After 24 h of clinical, laboratory and radiological surveillance, which evidenced deterioration in the newborn’s condition, an exploratory laparoscopy was performed, showing generalized peritonitis and perforated inflammatory appendix. A laparoscopic appendicectomy was performed. Histology confirmed the appendicitis diagnosis. The authors enhance the value of diagnostic laparoscopy and its potential as a therapeutic tool in neonates.