A Rare Case of Spontaneous Conception in Untreated Wilson's Disease

Wilson’s disease is a rare, autosomal inherited disorder of abnormal ATP7B gene resulting in excessive accumulation of copper in the liver and brain. It is suspected primarily in patients with degrees of liver failure or neuropsychiatric manifestations of unknown etiology in persons below 40 years of age. Diagnosis may be strengthened by presence of Kayser-Fleischer rings, serum ceruloplasmin< 20 mg% or high 24 hours urinary copper. The gold standard is however liver biopsy. Wilson’s disease usually leads to infertility or repeated miscarriages in females. It occurs in approximately 1:30,000 individuals with a carrier frequency of about 1 in 90. Here we present a rare case of spontaneous, consecutively successful pregnancies in a female with untreated Wilson’s disease.