We describe a patient with a background of unexplained recurrent miscarriages who was diagnosed with Wilson's disease and subsequently gave birth to two children after treatment was commenced.DECLARATIONSCompeting interestsNone declaredFundingNoneEthical approvalWritten informed consent to publication has been obtained from the patient or next of kinGuarantorDJNContributorshipThe patient in this case report is under the care of DJN who had the original idea of this report and contributed to the relevant literature search; TY was supervised by DJN, performed a large proportion of the relevant literature search and wrote and revised the report; GD was the obstetrician in charge of the patient and contributed expert opinion in her field; MM was responsible for harvesting and performing analysis on placental tissues from the patient, also providing expert opinion in his fieldReviewerSadia MalickIntroduction Section:Recurrent miscarriage is a less recognized feature of Wilson's disease and adequate treatment can alter the outcome of pregnancies favourably. Wilson's disease is a recessively inherited disorder of copper metabolism due to mutations in the ATP7B gene, which encodes for a copper-transporting P-type ATPase. Recurrent miscarriage is a complication of untreated Wilson's disease. It has been reported that miscarriages can predate neurological symptoms,1 and treatment with copper chelation improves the rate of successful pregnancies.1,2Case report Section:In May 2007, a 41-year-old woman of Pakistani origin presented with a three-year history of tremor. She had two other siblings affected with Wilson's disease, and their parents were consanguineous. She presented late because she moved between cities frequently. On examination, she had very obvious Kayser-Fleischer rings in both eyes (Figure 1). She had action tremor of both upper limbs and an unsteady ataxic gait.DownloadOpen in new tabDownload in PowerPointFigure 1 Kayser-Fleischer ring in the right eye of our PatientInvestigations confirmed the strong clinical suspicion of Wilson's disease. Serum copper was 0.6 mg/L (0.7-1.6 mg/L). Serum caeruloplasmin was 0.13 g/L (0.2-0.5 g/L). Urinary copper excretion was 124 μg/24 hr (<50 μg/24 hr). All other serological tests including liver enzymes were normal. Magnetic resonance imaging of the brain showed diffuse abnormal high signal in both thalami, cerebral peduncles, midbrain and pons consistent with Wilson's disease. Gene sequencing of ATP7B gene showed that she was heterozygous for c.3008 C > T; p.Ala1003Val novel amino acid change.However, her other main clinical problem was recurrent miscarriages. Up to the age of 34 years, corresponding to four years prior to onset of neurological symptoms, she had 10 miscarriages, all in the first trimester. Her menarche occurred aged 15, and her first pregnancy and miscarriage aged 18. Previous investigations including tests for antiphospholipid syndrome and exploratory laparoscopy and hysteroscopy revealed no causes for her miscarriages.Penicillamine was commenced in June 2007. She responded neurologically but compliance was poor due to side-effects and anxieties of teratogenicity. She was found pregnant six months into suboptimal therapy, her first on treatment, at 16 weeks gestation when she stopped treatment herself. She had cervical incompetence diagnosed at 19 weeks, likely to be caused by repeated endoscopic removal of products of reception for her previous miscarriages. She gave birth to a male infant of 574 g at 24 weeks gestation by emergency Caesarean section due to spontaneous rupture of membrane and cord prolapse. He died unexpectedly aged eight weeks due to aspiration pneumonia. An autopsy was declined, and placental copper was 0.33 μg/g (0.2-0.5 μg/g). She became pregnant for the 12th time in March 2009, and was admitted to hospital under the obstetrician for strict bed rest to avoid complications from cervical incompetence. She remained fully compliant with medication (pe
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