Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants

Benjamin Eurich
* ORCID logo ,
Catharina Nitsche
,
Margot Lau
ORCID logo ,
Britta Hanker
,
Juliane Spiegler
,
Guido Stichtenoth
Version 1 : Received: 13 April 2022 / Approved: 29 April 2022 / Online: 29 April 2022 (03:36:40 CEST)

A peer-reviewed article of this Preprint also exists.

Eurich, B.; Nitsche, C.; Lau, M.; Hanker, B.; Spiegler, J.; Stichtenoth, G. Progressive Respiratory Insufficiency in a Teenager withDiaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants. Children 2022, 9, 797. Eurich, B.; Nitsche, C.; Lau, M.; Hanker, B.; Spiegler, J.; Stichtenoth, G. Progressive Respiratory Insufficiency in a Teenager withDiaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants. Children 2022, 9, 797.

Abstract

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 finding 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’.

Keywords

GLDN variant; gliomedin; juvenile progressive respiratory insufficiency; diaphragmatic hypomotility; scoliosis; arthrogryposis; LCCS11; axonopathy; FADS

Subject

Medicine and Pharmacology, Pediatrics, Perinatology and Child Health

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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