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.