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Dehydrated hereditary stomatocytosis and recurrent prenatal ascites

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  • Obstetric Case Reports 527

    (Nohara et al. 2003). Th is case supports the acceptability of trying for vaginal delivery before resorting to caesarean section. Arguably, at caesarean section, the inadvertent cutting of the septum could result in an increased risk of bleeding and diffi culty in repair. Th ere is a lack of strong evidence for either option. Th e circumstances of the pregnancies, opinion of the medical team and importantly the mother s choice would therefore be the most crucial factors in determining which option is chosen.

    Declaration of interest: Th e authors report no confl icts of interest. Th e authors alone are responsible for the content and writing of the paper.

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    Dehydrated hereditary stomatocytosis and recurrent prenatal ascites

    H. Poret 1,2,3 , E. G. Simon 1,2,3 , P. Herv 2 & F. Perrotin 1,2,3

    1 UMR INSERM Unit 930, Tours, France, 2 CHRU de Tours, Service de gyn cologie-obst trique, Centre Olympe de gouges, CHU Bretonneau and 3 Universit Fran ois Rabelais de Tours, Tours, France

    DOI: 10.3109/01443615.2013.781142

    Correspondence: E. G. Simon, Service de Gyn cologie-obst trique, Centre Olympe de Gouges, CHU Bretonneau, 2 Boulevard Tonnelle, 37044 TOURS Cedex 01, France. E-mail:[email protected]

    Case report Dehydrated hereditary stomatocytosis (DHS), also known as heredi-tary xerocytosis , is a rare form of hereditary haemolytic anaemia with autosomal dominant transmission. Th is genetic disorder is provoked by a red cell membranopathy, leading to a well-compensated haemo-lytic anaemia. Approximately 30 families with DHS were described in the literature (Carella et al. 1998), but the exact prevalence is not yet known (Beaurain et al. 2007). Rare patients with DHS develop prena-tal oedema. It resolves spontaneously during the last weeks of gesta-tion or within the weeks following birth (Grootenboer et al. 2001).

    Here, we report a case of DHS associated with recurrent fetal ascites in two successive pregnancies. Th e mother showed haemo-lytic anaemia. Compensated hyperhaemolysis, high reticulocytosis,

    macrocytosis, presence of stomatocytes and gradient ektacytometric curves led to the diagnosis of DHS. Fetal ascites in the two pregnan-cies resolved spontaneously.

    A 32-year-old woman, gravida 2, para 1 was referred to our Prena-tal Diagnosis Unit for fetal ascites. Her past history mentioned hepa-titis at the age of 23. No aetiology had been found. Antenatal tests for hepatitis B, hepatitis C and human immunodefi ciency viruses, as well as for syphilis and cytomegalic virus were negative. She was immune to rubella. At 18 weeks, the routine scan showed severe ascites and minimal pleural eff usion. No polyhydramnios or placental oedema was present, and all organs appeared normal. Values for peak sys-tolic fl ow velocity in the middle cerebral artery remained within the normal range. An amniocentesis was performed. Th e karyotype was normal. Tests for storage diseases, digestive enzymes and infections were negative. Close ultrasound monitoring was decided. Pleural eff usion disappeared and fetal ascites increased during the 27th week of gestation. Ascites remained stable until the 31 weeks gestation and then resolved slightly. A complete resorption of ascites was noticed at 34 weeks gestation with magnetic resonance imaging. Natural vagi-nal delivery occurred at 38 weeks gestation, inducing the delivery of a female infant weighing 3,275 g with Apgar scores of 10 and 10 at 1 and 5 min, respectively.

    Th e mother s haemoglobin aft er delivery was 15 g/dl and her haematocrit NH48%, she had a macrocytosis. She refused further investigations. Th e baby did well. At the age of 5 months there was no splenomegaly, all biological tests were normal.

    Th e third pregnancy occurred 4 years later. At 14 weeks gestation, an ultrasound examination revealed a recurrence of fetal ascites with pleural eff usion. At 24 weeks gestation, another ultra-sound examination showed increased fetal ascites. Pleural eff usion had disappeared, and all organs appeared normal. Th ere was no polyhydramnios or placental oedema. Values for peak fl ow veloc-ity of the middle cerebral artery remained in the normal range. An amniocentesis was performed revealing normal karyotype. Tests for storage diseases, digestive enzymes and infections were negative. At 30 weeks gestation, the patient was hospitalised for preterm labour. Betamethasone was administered to induce pulmonary matura-tion. At this time, the patient showed an elevated serum glutamate oxaloacetate transaminase (SGOT) and serum glutamate pyruvate transaminase (SGPT) concentration. A hepatic biopsy was then per-formed under suspicion of acute fatty liver of pregnancy. Th is biopsy was normal.

    During hospitalisation, an ultrasound examination revealed increased ascites compared to the examination at 24 weeks. Th is ascites was more pronounced than in the previous pregnancy. A caesarean section was performed at 31 weeks gestation due to prema-ture rupture of membranes. A male infant with markedly increased abdominal circumference was born. Apgar scores were 6 and 6 at 1 and 5 min, respectively. He showed a mild respiratory distress as well as hypotonia and cyanosis. Th e abdomen was soft and distended with poorly formed abdominal musculature. Initial respiratory distress progressively disappeared and blood gases became normal with a CPAP for 13 days. A paracentesis was performed on his fi rst day of life; 300 ml of pale yellow coloured ascitic fl uid were removed (protein 28 g/l, glucose 4.3 mmol/l, LDH 188 UI/l; amylase 2 UI/l). No recurrence was reported aft erwards. Haemoglobin was 15.4 g/dl, macrocytosis was observed, white cells and platelets were normal. Th e patient s course was favourable and he was transferred to the neonatal intermediate care unit. Presently, this infant is doing well.

    Aft er this third pregnancy, the mother presented with spleno-megaly. A blood fi lm showed a compensated haemolysis and a macrocytosis with signifi cant reticulocytosis (271.5 10 9 /l), normal haemoglobin (14.9 g/dl), and increased mean corpuscular volume (99.9 fl ). Th en extensive investigations were performed. Th ere was no evidence of thalassaemia. But, it seemed highly likely that mother and children had the same dominantly inherited problem of intrauterine ascites, possibly associated with the mother s mild haemolysis. An ektacytometry was performed, the ektacytometric curve was shift ed left ward, as typically found in dehydrated hereditary stomatocytosis. It was concluded as DHS. Ektacytometry was performed on all children and they had DHS similar to their mother.

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  • 528 Obstetric Case Reports

    Discussion Fetal ascites is not a frequent ultrasound fi nding. An underlying pathology or associated disorder occurs in 92% of cases. A care-ful search for the aetiology of ascites should be undertaken. It is frequently associated with several pathologies such as parvovirus, cardiac malformation or dysfunction and aneuploidy. DHS is