Open AccessHirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant
Author(s) -
Gauntner Timothy D.,
Karumuri Manasa,
Guzman Miguel A.,
Starnes Sara E.,
Besmer Sherri,
Pinz Hailey,
Braddock Stephen R.,
Andreone Teresa L.
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3816
Subject(s) - medicine , disease , l1 , spasticity , charge syndrome , dermatology , pediatrics , pathology , physical therapy , human papillomavirus , psychiatry
L1syndrome 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.