Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review

We report on two unrelated patients with DCDC2-related NSC with additional central nervous system impairment manifesting as microcephaly, global developmental delay, and axial hypotonia. Histological findings of our patients can mimic biliary atresia or congenital hepatic fibrosis. We further show that transmission electron microscopy in patients with NSC does not always show absence of primary cilia. Hence patients with DCDC2 pathogenic variants should also undergo an evaluation of neuromotor development. Review of all reported patients further reveals a risk for supra-aortic arterial aneurysms.PMID:34155636 | DOI:10.1111/cge.14012

Source: Clinical Genetics - June 22, 2021 Category: Genetics & Stem Cells Authors: Hannes Syryn Anne Hoorens Tassos Grammatikopoulos Maesha Deheragoda Sofie Symoens Saskia Vande Velde Stephanie Van Biervliet Myriam Van Winckel Patrick Verloo Bert Callewaert Ruth De Bruyne Source Type: research