TY  - JOUR
A1  - Eurich, Benjamin
A1  - Nitsche, Catharina
A1  - Lau, Margot
A1  - Hanker, Britta
A1  - Spiegler, Juliane
A1  - Stichtenoth, Guido
T1  - Progressive respiratory insufficiency in a teenager with diaphragmatic hypomotility due to a novel combination of gliomedin gene variants
JF  - Children
N2  - Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN) and has been known to be severely life-shortening, mainly due to respiratory insufficiency. Patients with this condition have been predominantly treated by pediatricians as they usually do not survive beyond childhood. In this case report, we present a young adult who developed severe progressive respiratory insufficiency as a teenager due to diaphragmatic hypomotility and was diagnosed with LCCS11 following the discovery of compound heterozygous pathogenic variants in GLDN. This case demonstrates the importance of screening for neuromuscular diseases in well-child visits and follow-ups of patients at risk for gross and fine motor function developmental delay. It also underscores the significance of including LCCS11 and other axonopathies in the differential diagnosis of juvenile onset of respiratory insufficiency, highlights that patients with this condition may present to adult practitioners and questions whether the nomenclature of this condition with various phenotypes should be reconsidered due to the stigmatizing term ‘lethal’.
KW  - GLDN variant
KW  - gliomedin
KW  - juvenile progressive respiratory insufficiency
KW  - diaphragmatic hypomotility
KW  - scoliosis
KW  - arthrogryposis
KW  - LCCS11
KW  - axonopathy
KW  - FADS
Y1  - 2022
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-275199
SN  - 2227-9067
VL  - 9
IS  - 6
ER  -