Hirschsprung Disease in an Infant with L1 Syndrome: Report of a New Case
and a Novel L1CAM Variant
Abstract
L1 syndrome is an X-linked disorder manifesting with congenital
hydrocephalus, adducted thumbs and spasticity. There are rare cases of
L1 syndrome and coincident Hirschsprung disease, with mutations in the
L1CAM gene thought to underlie both. We present a novel pathogenic L1CAM
variant in someone with L1 syndrome and Hirschsprung disease.20 Oct 2020Submitted to Clinical Case Reports 27 Oct 2020Submission Checks Completed
27 Oct 2020Assigned to Editor
03 Nov 2020Reviewer(s) Assigned
24 Dec 2020Review(s) Completed, Editorial Evaluation Pending
24 Dec 2020Editorial Decision: Accept
