Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Rachel Sayuri Honjo KawahiraEvelyn Cristina Nuñez VacaGabriela Nunes LealDeipara Monteiro AbellanNana Miura IkariMarcelo Biscegli JateneAna Maria MartinsChong Ae KimPublished in: BMC medical genetics (2020)
We report the first case of MPS VI whose manifestations started in the prenatal period with fetal ascites, with severe cardiac valvular disease that eventually required early surgical repair. Moreover, in MPS with neonatal presentation, including fetal hydrops, besides MPS I, IVA and VII, clinicians should include MPS VI in the differential diagnosis.