Band 3, Heft 1

Erythropoietic protoporphyria is a rare, inherited disorder, mainly characterised by photosensitivity. Its accompanying vitamin D and iron deficiencies, as well as potential effects on the liver, make it an important condition to monitor in pregnancy. However, as discovered in our subject case, pregnancy and delivery appear to pose little additional burden to the woman or baby, and in fact, may lead to an improvement of symptoms.

Aim: Hyperreactio luteinalis (HL) is characterised by ovarian cystic enlargement that is associated with high levels of human chorionic gonadotropin (hCG). Here the possible effects of abnormally high hCG levels on foetal development are demonstrated. Method: We report a 28-year-old patient who was referred for evaluation of bilateral maternal ovarian enlargement in the second trimester. Abnormally elevated hCG (887,514 IU/L) was found with ultrasound examination identifying various foetal malformations. The karyotype was normal. Spontaneous abortion occurred at 20 weeks. Autopsy showed testicular hypertrophy with marked Leydig cell hyperplasia. The HL resolved with normalisation of the hCG levels following delivery. Conclusion: HL is a rare finding in normal pregnancies; the potential effects of abnormally elevated hCG on the foetus are discussed.

The most frequent surgical intervention in obstetric practice is a caesarean section, which is associated with several short- and long-term complications. Re-laparatomy after caesarean section is one of the most distressing of these complications and the reported incidence is 0.12–0.70%. The most common indications for re-laparatomy after caesarean section are bleeding, uterine atony, eventration and haematoma in the muscles. Herein, we report a case of entrapment of the small bowel caused by improper closure of the parieatal peritoneum after a caesarean section that required re-laparatomy. Closure of the parieatal peritoneum is recommended to avoid future development of adhesions, however, stitch intervals should be properly adjusted to prevent incarceration of the small bowel. We recommend closure of the peritoneum after caesarean section, however, stitch intervals should be kept at no more than 1.5 cm to avoid entrapment of the small bowel.

Prochlorperazine is a class I-A anti-emetic recommended for the treatment of severe nausea and vomiting in pregnancy. We present a case where a patient presented with hyperemesis gravidarum refractory to pyridoxine/doxylamine and dimenhydrinate and developed akathisia and dystonia after receiving prochlorperazine. Her condition resolved immediately following the administration of diphenhydramine. While procholorperazine is known to very rarely cause focal dystonias such as an oculogyric crisis, the influence of phenothiazines and neuroleptics on dopaminergic receptors can also trigger behavioural changes, which can rapidly evolve into a life-threatening condition.

Pregnancy in patients with cirrhosis of the liver poses significant risks to both the mother and her fetus. Little is known about the occurrence of thrombocytopenia or placental abruption in pregnant women with cirrhosis. We present an 18-year-old primigravida who was diagnosed with cirrhosis of the liver during evaluation of severe thrombocytopenia at 20 weeks’ gestation. Esophagogastroduodenoscopy confirmed large esophageal varices, and β-blocker therapy was initiated for primary prophylaxis of esophageal bleeding. She delivered via emergent cesarean section at 24 and 6/7 weeks for fetal heart rate decelerations and placental abruption. This case demonstrates how cirrhosis of the liver, especially in association with thrombocytopenia, may be associated with an increased risk for placental abruption. Hypersplenism should be considered in a pregnant woman with thrombocytopenia and leukopenia.

Diabetes insipidus is a condition characterised by polyuria and polydipsia with excretion of diluted urine. Transient diabetes insipidus has been reported in pregnancy and is often associated with acute fatty liver of pregnancy, pre-eclampsia, HELLP syndrome and multiple pregnancy. Presenting symptoms can be vague. In our case, a primigravida with spontaneous monochorionic diamniotic twin pregnancy presented at 36+3 weeks in early labour. Severe hypernatremia was found in the patient and in both twins after a caesarean section was performed. Transient diabetes insipidus was diagnosed based on paired serum and urine osmolality. The hypernatremia was corrected gradually and 1-deamino-8D-arginine vasopressin was given. A high index of suspicion and early involvement of physicians and paediatricians are needed to avoid catastrophic consequences.

Antiphospholipid antibody (APLA) syndrome is an autoimmune disease which is associated with preeclampsia and can cause thromboembolic events in several organs including the spleen. This report includes a case of post-partum splenic rupture in a woman with preeclampsia in the presence of APLA syndrome and a literature review of splenic rupture during the third trimester and puerperium. Unlike the prominent clinical manifestation of liver hematoma and rupture during preeclampsia, rupture of the spleen can be silent and mistakenly underdiagnosed.

Introduction: Amyotrophic lateral sclerosis (ALS) is a progressive degenerative motor neuron disease that is rarely encountered in the obstetric population. This report describes the successful use of long-term mechanical ventilation in a pregnant woman with ALS. Case presentation: A 37-year-old G3P2 woman with ALS was admitted to the emergency room with shortness of breath, tachypnea, and evidence of hypoxic and hypercapnic respiratory failure at 24 weeks of gestation, precipitated by bacterial pneumonia. Antibiotic therapy, intubation, and mechanical ventilatory support were initiated, followed by an early tracheostomy as soon as the need for prolonged airway access was identified. The mother remained with prolonged mechanical ventilation until spontaneous preterm birth occurred at 32 weeks of gestation, with the vaginal delivery of a healthy infant. The mother was discharged from the intensive care unit during puerperium to continue mechanical ventilation support in a home care facility. Conclusion: Long-term mechanical ventilation can be successfully performed during pregnancy. Goals of oxygenation and ventilation need to be modified and customized based on the underlying condition and the status of the mother.

Background: Uterine or hypogastric artery embolization is a useful alternative to hysterectomy in the treatment of postpartum hemorrhage. Case: Puerpera requiring a bilateral hypogastric artery embolization for postpartum hemorrhage after cesarean section in a term twin pregnancy. Unexpected unilateral buttock necrosis appeared 5 days later. Treatment consisted of debridement, the use of vacuum-assisted closure therapy and skin grafting. Conclusion: Buttock necrosis is a rare complication after hypogastric artery embolization in the treatment of postpartum hemorrhage.

Objective: Gitelman syndrome (GS) is a rare renal disease, originating from a defect in the Na-Cl co-transporter in the distal tubule, which causes hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and low-normal blood pressure. Mild hypokalemia of pregnancy is physiological. Fatigue, nausea, vomiting, polyuria and low blood pressures are also common complaints associated with a normal pregnancy. Therefore, the diagnosis of an organic renal disorder, i.e., GS, may go undetected, until severe hypokalemia and possible life-threatening cardiac arrhythmias develop. Maternal consequences are obvious. The possibility of fetal pathology remains unclear. Study design: In this study, we describe nine pregnancies in seven women with a clinical diagnosis of GS. Nearly all women were diagnosed initially during pregnancy. We describe their clinical presentation, serum and urine electrolyte levels during pregnancy and immediately post-partum, their treatment and pregnancy outcome. Results: Fetal pregnancy outcomes were mostly favorable. While it is likely that women suffering from GS do not require special fetal surveillance, they are at high risk for electrolyte depletion and thus aggravation of GS during pregnancy. Conclusion: Clinical suspicion of GS should arise in all women presenting with symptomatic hypokalemia. Once the diagnosis is made, adequate supplementation and routine maternal monitoring should ensue.

Extraordinary weight gain may be an initial finding in some patients with peripartum cardiomyopathy (PPCM). This case highlights the need for studies of the relationship between degrees of antenatal weight gain and risk of PPCM. A 33-year-old woman exhibited weight gain of 1.0 kg/week (38.5–60.6 kg) between gestational weeks (GW) 12+2 and 33+2 at which dyspnea appeared. Her body weight further increased to 69.1 kg at GW 34+2 at which echocardiography revealed left ventricular dysfunction (ejection fraction=27%, fractional shortening=4.0%). She then lost 24 kg in body weight by 4 weeks postpartum.

Misplaced or wandering clips in endoscopic surgery have led to a variety of complications and diagnostic challenges. We describe a woman at 37 weeks of gestation, who presented to our hospital with symptoms of acute abdomen pain. Sonographic examination showed voluminous abdomino-pelvic fluid and laparotomy revealed a bladder perforation with endoclips attached to the urinary bladder fundus. The clips had been placed for hemostasis during the laparoscopic removal of an intrapelvic intrauterine device 2years earlier. We emphasize the importance of meticulous dissection, proper tissue handling and the removal of any misplaced/wandering clips during endoscopic surgery.

Uterus didelphys is one of the developmental malformations of the mullerian ducts because of non-fusion in the midline resulting in two separate uteri. Simultaneous twin gestation with each fetus in a separate horn of uterus didelphys is an extremely rare entity. Herein, we report a case with spontaneous gestations in each uterine cavity in which the course of pregnancy of the right horn was complicated by preterm labor.

We present the prenatal ultrasound findings of massive macroglossia in a fetus with prenatally diagnosed Beckwith-Wiedemann syndrome. Three-dimensional surface mode ultrasound was utilized for enhanced visualization of the macroglossia.

Congenital abdominal aortic aneurysms are rare but have chronic and life-threatening sequelae including hypertension, thromboses, and death. A fetal ultrasound at 27 weeks’ gestation diagnosed a giant abdominal aortic aneurysm. The patient delivered at another tertiary care center where pediatric cardiovascular surgery care was available. Her term 3096-g female infant developed hypertension, biventricular hypertrophy, and right kidney ischemia. She underwent surgical repair at 2 months of life but subsequently lost all residual renal function and was not a candidate for dialysis. Support was withdrawn and she expired. Although isolated fetal AAA is rare, prenatal diagnosis is feasible and facilitates early referral for multi-disciplinary postnatal care. Outcome depends on the size and location of the aneurysm as well as on peri-operative complications.

Monochorionic (MC) twins are characterized by prenatal intertwin placental anastomoses, which can lead to twin oligo-polyhydramnios sequence (TOPS) or twin anemia-polycytemia sequence (TAPS). Symptoms of both TOPS and TAPS may interfere with symptoms of parvovirus B19 (B19V) infection. We describe here the course of an MC twin pregnancy with prenatal B19V infection and intrauterine death of one twin. Both the antenatal and postnatal diagnoses of B19V infection require a detailed approach including serology, DNA analysis, and specific fetopathologic investigation.

Tessier no. 30 cleft, also known as median mandibular cleft or lower midline facial cleft, is extremely rare. Less than 100 cases are reported in the literature, which show great variation in severity and associated abnormalities. We herein report a median mandibular cleft extending into the neck. Its importance comes from the fact that it is one of the two cases diagnosed antenatally and it is the first one diagnosed as early as 17 weeks of gestation. Early diagnosis allowed the patient to deliver in a more specialized clinic that was able to deal with immediate postnatal complications. The family was psychologically prepared for the delivery of a baby with a major anomaly.

Background: Although fetuses with Klippel-Trénaunay-Weber syndrome (KTS) show various morphological abnormalities on imaging studies, fetal presentation with hydrops fetalis is relatively uncommon in KTS. Case: A 28-year-old Japanese woman who had previously given birth to a healthy infant was referred to us at gestational week (GW) 22 due to huge pleural effusion and ascites. The possibility of fetal pulmonary hypoplasia prompted us to place bilateral thoracoamniotic shunts at GW 23 after extensive discussion with both parents. The bilateral shunts were effective in preventing recurrence of pleural effusion. However, ascites gradually increased and clinical signs of fetal cardiac failure necessitated cesarean section at GW 34. A male infant, weighing 4252 g at birth and 2860 g after removal of ascites, survived to the neonatal period and did not require oxygen after postnatal day 63. The infant left hospital on day 103 with a diagnosis of KTS. Conclusion: Fetuses with KTS may present with massive pleural effusion and ascites. Thoracoamniotic shunting may be effective in such hydropic fetuses with KTS.

We describe a case report of acardiacus acephalus twinning associated with exomphalos major in both twins. One twin survived, who in addition had an anorectal anomaly and hypospadias. This is the first reported description of this combination of anomalies.

Small for gestational age (SGA) newborn infants can have prolonged hypoglycemia due to diminished glycogen stores, diminished alternative energy substrates, or hyperinsulinism. Recurrent episodes of hypoglycemia are strongly correlated with persistent neuro-developmental and physical growth deficits. Treatment includes glucose supplements or medications affecting insulin secretion, gluconeogenesis, or glycogenolysis. Diazoxide suppresses insulin secretion by acting as an ATP-sensitive potassium channel agonist to prevent membrane depolarization, calcium influx, and insulin secretion. Therefore, it is used in persistent hypoglycemia of neonates associated with hyperinsulinism. We report a case of a female SGA preterm infant who had persistent hypoglycemia (>2 weeks of age) with low adequate serum insulin levels and no other clear biochemical evidence of hyperinsulinism or other abnormalities. As a result of an inability to control her glucose levels without high intravenous levels of glucose and continuous glucagon infusion, she was treated successfully with diazoxide, which was discontinued when the infant reached 5 kg. No side effects were noted. In rare cases of persistent hypoglycemia, and a need for high glucose infusion rate but with adequate low insulin levels even without biochemical evidence supportive of hyperinsulinism, diazoxide treatment can be offered with close monitoring of glucose levels and possible side effects. The exact mechanism is not clear and deserves further evaluation.