Unable to walk or eat without assistance in pregnancy—Wilson’s disease in a resource-limited and conflict-affected setting: a case report

Information from the abstract

Abstract Background Wilson’s disease, an autosomal recessive disorder, affects body copper metabolism. It can be fatal if left untreated as the copper accumulation ultimately leads to liver failure, brain damage, or both. In women discontinuation of menstruation, miscarriage and impaired conception can be symptoms of Wilson’s disease. Successful pregnancies in untreated patients with major symptoms are rare. Case presentation A 30-year-old, gravidity 5, parity 4, Karen woman presented, after travelling for more than 5 h to a clinic on the Thailand–Myanmar border. Over the course of a year she progressively lost the ability to walk, sit or drink by herself. Kayser–Fleischer rings were present along with a 7-month pregnancy. Oral zinc was commenced based on a provisional diagnosis of Wilson’s disease, and later switched to D-penicillamine when it could be sourced. After birthing a healthy term female baby, mum required an assistant to secure and maintain attachment for breastfeeding. After 1 year of follow-up most of the symptoms had resolved and the baby was thriving. Conclusions A thorough physical examination remains essential for neurological presentations in resource-limited and conflict-affected settings remains key to diagnosis and life-saving treatment, including for Wilson’s disease.

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