Paroxysmal nocturnal haemoglobinuria, lupus and pregnancy

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Obstetric Case Reports 523 massive lipoma from the retroperitoneal space is a difficult task that should be performed by experienced surgeons. However, the prognosis after surgery is very good. Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

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References

Figure 2. Pathological detection of retroperitoneal lipoma in an adipose cell (H&E, ⫻ 200).

laparotomy was done, with a median sub-umbilical incision. The infant weighed 2,955 g and was morphologically normal. A solid encapsulated tumour with dimensions of 20 ⫻ 12 ⫻ 10 cm was also found. This had very evident cleavage planes with the left colon, left kidney, ureter, vena cava, aorta and the iliac vessels (Figure 1). The capsule showed weak adherence to retroperitoneal tissue, to smallcalibre vessels on its surface and to the large-calibre arteriovenous pedicle in the posterior region. Using a retroperitoneal approach, a large lipoma was extracted from the left pelvic cavity. The lipoma weighed 1,650 g, and had an embossed yellowish-rosy coloured surface interspersed with white striations. The tumour had not infiltrated neighbouring tissues. The space where the lipoma was located was washed out with saline. Histopathological examination of the lipoma showed that it consisted of typical mature adipose cells (Figure 2). The tumour tissue showed no oestrogen or progesterone receptors. The postoperative course was straightforward except for an apparent chest infection, which was treated aggressively. At 6 months’ review, there was no evidence of recurrence and the mother and infant were both healthy.

Discussion Retroperitoneal lipomas are a heterogeneous group of mesenchymal tumours. They are usually large and most frequently occur in the retroperitoneal, perineal and pelvic regions. Due to their gradual growth, retroperitoneal lipomas can attain considerable size (Zhang et al. 1987), generally presenting with diameters of ⬎ 15 cm. Martinez et al. (2003) described one case of lipoma with tumour dimensions of 20 ⫻ 13 ⫻ 10 cm and weighing 3,400 g. Ultrasound and computerised tomography (CT) of the abdomen are of great importance in the diagnosis and local evaluation of retroperitoneal tumours (Usandivaras and Díaz San Román 2001), but CT has greater diagnostic precision than ultrasound, as it allows better assessment of the possibilities for surgical resection. Our patient was in the 39th week of gestation, CT or MRI examination could not be performed; additionally, there were financial constraints. The retroperitoneal lipoma had been first detected at the 35th gestational week by ultrasound, which showed a voluminous hypoechoic homogenous tumour with a regular outline and a size of about 12.6 ⫻ 10 ⫻ 18 cm. However, no such tumours had been seen before pregnancy. If the tumour tissue in this case had contained oestrogen and progesterone receptors, tumour development might have been considered to be associated with pregnancy. However, the evidence suggests that the presentation was coincidental. For retroperitoneal lipomas, surgical removal of the tumour is the primary treatment option. Pregnancy combined with giant retroperitoneal lipomas is a rare and uncommon phenomenon. However, an obstetrician should be aware of this rare clinical entity. Surgery is the best treatment option in such cases, but it is dependent on the gestational stage and the size of the tumour. Surgical extraction of a

Bengmark S, Hafstrom L, Jonsson PE et al. 1980. Retroperitoneal sarcoma treated by surgery. Journal of Surgical Oncology 14:307–314. Foa C, Mainguene C, Dupre F et al. 2002. Rearrangement involving chromosomes 1 and 8 in a retroperitoneal lipoma. Cancer Genetics and Cytogenetics 133:156–159. Martinez CA, Palma RT, Waisberg J. 2003. Giant retroperitoneal lipoma: a case report. Arquivos de Gastroenterologia 40:251–255. Montesinos MR, Falco JE, Sinagra DL et al. 2000. Sarcomas retroperitoneales. Revista Argentina De Cirugía 78:1–5. Usandivaras JR, Díaz San Román AH. 2001. Resección de tumores retroperitoneales. Revista do Instituto de Medicina Tropical de São Paulo 7:23–32. Zhang SZ, Yue XH, Liu XM et al. 1987. Giant retroperitoneal pleomorphic lipoma. American Journal of Surgical Pathology 11:557–562.

Paroxysmal nocturnal haemoglobinuria, lupus and pregnancy E. N. Kontomanolis1, A. Arvaniti3, A. V. Christoforidou2, D. Margaritis2, C. Tsatalas2, N. Koutlaki1, M. Samakouri3, G. Galazios1 & V. Limperis1 Departments of 1Obstetrics and Gynecology, 2Hematology and 3Psychiatry, Democritus University, Alexandroupolis, Greece DOI: 10.3109/01443615.2013.777696 Correspondence: E. N. Kontomanolis, Michael Papadaki Street 222, Ekali 14578, Athens, Greece. E-mail: [email protected]

Case report A 27-year-old patient, primigravida, with a 5-year history of paroxysmal nocturnal haemoglobinuria (PNH), visited the fetal medicine clinic at 12 weeks’ gestation. Her medical history reported persistent fatigue, sleepiness and mild haemolytic anaemia along with mild thrombocytopenia with no transfusion needs. On examination with flow cytometry, the PNH clone size went up to 88% CD55-/CD59- of peripheral blood granulocytes at 9 weeks’ gestation. Termination of the pregnancy was offered but the patient declined. She was administered anticoagulant therapy with LMWH at therapeutic doses throughout pregnancy and the postpartum period. Her past medical evaluation was significant for positive ANAs at a low titre (1:160) of anti-SSA antibodies with negative anti-ds DNA. At the end of the 1st trimester, she also developed positive anti-dsDNA antibodies and had a five-fold increase in anti-SSA titre. Subsequent rheumatology evaluation revealed an ‘incomplete’ lupus erythematosus syndrome. Fetal echo showed tricuspid insufficiency, an uncomplicated amniocentesis was performed, and a normal fetal karyotype was found. At 35 weeks, she developed worsening thrombocytopenia (PLT 35,000/μl). Considering her ‘lupus’ syndrome, corticosteroid treatment was initiated which resulted in a moderate increase in PLT count. She did not require platelet transfusion. At 39 weeks, the woman had a vaginal delivery giving birth to a female, weighing 3,150 g, with an Apgar score of 9 at 1 min and 10 at 5 min. Steroids were tapered to 4 mg methylprednisolone every other day and enoxaparin continued at an intermediate dose of 1 mg/kg q.d. On the 20th postpartum day, she was referred to the psychiatrist because of depression. Symptoms included intense sadness, sleep disturbance, irritability, thoughts of deficiency about her maternal role and concern about hurting herself. The possibility of self-harm was evaluated and deemed to be negligible to achieve. She refused to

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Obstetric Case Reports

take antidepressant therapy or medication although the baby was not breast-feeding. On the 41st day, while still on anticoagulant therapy, the patient was admitted to the Department of Hematology with gastrointestinal haemorrhage and she received a total of four packed RBCs units plus one unit of platelet therapy. Anticoagulation was stopped. At this point, her platelet count was 100,000/μl. Gastroscopy revealed a small area of bleeding in the fundus of the stomach. Five days later, haemorrhage stopped, but at the 8th day of hospitalisation, she complained of upper right quadrant pain. Ultrasound revealed thrombosis of the left branch of the portal vein, the three main hepatic veins and an enlarged liver, compatible with Budd–Chiari syndrome, but no ascites. Laboratory investigation for known thrombophilic risk factors like antiphospholipid antibodies, Factor V-Leiden, PC, PS, AT and G20210A mutation was negative. Thrombolysis was initiated with intravenous tPA, which resulted in an incomplete resolution of thrombosis. Therapeutic doses of anticoagulation with fondaparinux at 7.5 mg q.d. were resumed and the patient was later discharged without signs of hepatic failure. In a subsequent psychiatric examination, she described psychotic symptoms that were not reported to anyone, including relatives or hospital staff. The symptoms described were mainly delusions and possibly, though less likely, hallucinations. Admission to the hospital was described as a prison and she believed that doctors, nurses and relatives had conspired in order to harm her. She believed that drug administration was a means to harm and not heal her. However, upon returning home she quickly felt ‘like herself again’ and confirmed that none of the described symptoms were recurring.

Discussion PNH is an acquired disorder of haemopoiesis, characterised by recurrent episodes of intravascular haemolysis due to an increased sensitivity to complement-mediated haemolysis. In PNH there is an acquired mutation of glycophosphatidylinositol complementation class A (PIG-A) gene. The PIG-A gene is genetically required for the biosynthesis of the GPI molecule. The GPI molecule attaches proteins onto the plasma membrane of the cells. This attachment protects the cells from basal membrane disruption and eventually haemolytic anaemia. In PNH, the absence of two major complement regulatory proteins CD55 and CD59 triggers the intravascular and extravascular cascade of haemolysis. The main clinical manifestations of the disease are bone marrow failure, haemolytic anaemia and thrombosis in large vessels (Fieni et al. 2006; Richards et al. 2007; Young et al. 2009). Many pregnancies have been reported in women with this disease but there is an increased morbidity of both the mother and the fetus (Fieni et al. 2006). Thrombotic episodes take place more frequently in the postpartum period (Fieni et al. 2006). Our patient experienced gastric bleeding which was probably due to the anticoagulant treatment and afterwards a Budd–Chiari syndrome that was successfully managed with thrombolysis. The cessation of anticoagulant treatment and the multiple transfusions may have contributed to the development of thrombosis, although it is well known that thrombosis occur frequently, even in fully anticoagulated PNH patients (Young et al. 2009). Haemolytic episodes and thrombosis can be blocked to a great extent by the monoclonal antibody, eculizumab, a potent C5 complement inhibitor (Parker 2011). Eculizumab seems to be well tolerated and effective in patients with PNH. Fetal outcomes have been good so far (Melo et al. 2011). We considered the use of eculizumab in our patient during pregnancy, but due to the absence of haemolytic episodes and need for transfusions, we decided against it. There are only two published cases of co-existence of PNH and SLE in the same patient (Gupta et al. 2009; Nakamura et al. 2011). These patients had a pre-existing SLE and both were women. Our patient developed psychotic symptomatology, which can be explained by (a) brief psychotic disorder – postpartum onset, (b) SLE and (c) treatment with corticosteroids. Most postpartum psychoses are very often the result of underlying functional psychiatric disorders (e.g. the result of an exacerbation of another disease such as SLE) (Harsch 1983).

The fact that psychotic symptoms deteriorated while the patient was receiving corticosteroids (steroid treatment has been implicated to cause psychotic disturbances) without being administered antipsychotic treatment, raises the suspicion of a ‘brief psychotic disorder with postpartum onset, most likely in the presence of lupus’. Psychosis is one of the first syndromes that may occur in SLE. The usual treatment is corticosteroids, antipsychotics and immunosuppressive regimes (Banyś et al. 2011; Mantovani et al. 2012). This case report highlights the rare but potential co-existence of PNH and SLE in the same patient with the likely haematological and psychiatric complications not just in the antenatal period and teaches us to be vigilant in the postnatal period. The woman had no symptoms of thrombosis during pregnancy, and developed serious complications in the postpartum period, despite anticoagulation. Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

References Banyś A, Kaźmierski J, Jaszewski R. 2011. Psychiatric manifestations in a patient after surgical management of aortic stenosis of systemic lupus erythematosus. Archives of Medical Science 7:342–344. Fieni S, Bonfanti L, Gramellini D et al. 2006. Clinical management of paroxysmal nocturnal hemoglobinuria in pregnancy: a case report and updated review. Obstetrical Gynecological Survey 61:593–600. Gupta A, Al Fulaij R, Gupta RK et al. 2009. Development of paroxysmal nocturnal haemoglobinuria in systemic lupus erythematosus: an unusual cause of portal vein thrombosis. Lupus 18:743–746. Harsch HH. 1983. Postpartum psychosis and systemic lupus erythematosus. Psychiatric Medicine 1:303–308. Mantovani C, Louzada-Junior P, Nunes EA et al. 2012. Antinuclear antibodies testing as a routine screening for systemic lupus erythematosus in patients presenting first-episode psychosis. Early Intervention in Psychiatry 6:322–325. Melo A, Gorgal-Carvalho R, Amaral J et al. 2011. Clinical management of paroxysmal nocturnal hemoglobinuria in pregnancy: three case reports. Blood Transfusion 9:99–103. Nakamura N, Sugawara T, Shirato K et al. 2011. Paroxysmal nocturnal hemoglobinuria in systemic lupus erythematosus: a case report. Journal Medical Case Reports 5:550. Parker CJ. 2011. Management of paroxysmal nocturnal hemoglobinuria in the era of complement inhibitory therapy. Hematology. American Society of Hematological: Education Program 21–29. Richards SJ, Hill A, Hillmen P. 2007. Recent advances in the diagnosis, monitoring, and management of patients with paroxysmal nocturnal hemoglobinuria. Cytometry Part B Clinical Cytometry 291–298. Young NS, Meyers G, Hillmen P et al. 2009. The management of paroxysmal nocturnal hemoglobinuria: recent advances in diagnosis and treatment and new hope for patients. Seminars in Hematology 46:S1–S6.

Extremely delayed delivery of second and third fetus in spontaneous triplet pregnancy M. Zimmer1, T. Fuchs1, M. Pomorski1, R. Geneja1, B. Krolak-Olejnik2, M. Lachowska2 & D. Paluszynska2 Departments of 1Gynecology and Obstetrics and 2Neonatology, Wroclaw Medical University, Wroclaw, Poland DOI: 10.3109/01443615.2013.783005 Correspondence: T. Fuchs, Department of Gynecology and Obstetrics, Wroclaw Medical University, Ul. Borowska 213, 50–556 Wroclaw, Poland. E-mail: [email protected]

Introduction Delayed deliveries in multiple gestations occur rarely, and there are no explicit guidelines covering procedures after the delivery of the

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