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Hirschsprung Disease in an Infant with L1 Syndrome: Report of a New Case and a Novel L1CAM Variant
  • Teresa Andreone
Teresa Andreone
Saint Louis University Care - The Physicians of Saint Louis University
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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.

Peer review status:ACCEPTED

20 Oct 2020Submitted to Clinical Case Reports
27 Oct 2020Assigned to Editor
27 Oct 2020Submission Checks Completed
03 Nov 2020Reviewer(s) Assigned
24 Dec 2020Review(s) Completed, Editorial Evaluation Pending
24 Dec 2020Editorial Decision: Accept