Outcome and Follow up:
Patient 1: Since diagnosis, her course has been dominated by chronic malnutrition requiring gastrostomy tube placement, hypothyroidism (requiring levothyroxine) and complications from arthrogryposis multiplex congenita. She continues to have chronic fluctuating hepatitis (overall improving) with stable hepatomegaly and elevated serum bile acids leading to pruritus for which she is being treated with ursodiol and odevixibat. She is also on DEKA vitamins. Despite these complications, child is a happy toddler approaching 3 years of age, and otherwise stable.
Patient 2: Similar to her sibling she also has chronic fluctuating hepatitis and elevated serum bile acids leading to pruritus for which she is being treated with ursodiol and odevixibat. While her clinical features are somewhat less severe compared to her sibling, the presence of similar mutations suggests that she is likely to follow a comparable course of the condition.