title: Bilateral congenital lumbar hernias in a patient with central core disease--A case report.
abstract: Congenital lumbar hernias are rare malformations caused by defects in the development of the posterior abdominal wall. A known association exists with lumbocostovertebral syndrome; however other associated anomalies, including one case with arthrogryposis, have been previously reported. We present an infant girl with bilateral congenital lumbar hernias, multiple joint contractures, decreased muscle bulk and symptoms of malignant hyperthermia. Molecular testing revealed an R4861C mutation in the ryanodine receptor 1 (RYR1) gene, known to be associated with central core disease. This is the first reported case of the co-occurrence of congenital lumbar hernias and central core disease. We hypothesize that ryanodine receptor 1 mutations may interrupt muscle differentiation and development. Further, this case suggests an expansion of the ryanodine receptor 1-related myopathy phenotype to include congenital lumbar hernias.
authors.affiliation: Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada. Electronic address: joanna.lazier@albertahealthservices.ca.
authors.forename: Joanna
authors.initials: J
authors.lastname: Lazier
authors.affiliation: Section of Neurology, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Jean K
authors.initials: JK
authors.lastname: Mah
authors.affiliation: Division of Neuropathology, Department of Pathology and Laboratory Medicine, University of Calgary and Calgary Laboratory Services, Calgary, Alberta, Canada.
authors.forename: Ana
authors.initials: A
authors.lastname: Nikolic
authors.affiliation: Diagnostic Imaging, Alberta Children's Hospital, Calgary, Alberta, Canada.
authors.forename: Xing-Chang
authors.initials: XC
authors.lastname: Wei
authors.affiliation: Division of Neonatology, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Veronica
authors.initials: V
authors.lastname: Samedi
authors.affiliation: Division of Neonatology, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada; Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Carlos
authors.initials: C
authors.lastname: Fajardo
authors.affiliation: Department of Surgery, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Mary
authors.initials: M
authors.lastname: Brindle
authors.affiliation: Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Renee
authors.initials: R
authors.lastname: Perrier
authors.affiliation: Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Mary Ann
authors.initials: MA
authors.lastname: Thomas
mesh_terms: D005260:Female; D046449:Hernia, Abdominal / Q000150:complications*; D006801:Humans; D007223:Infant; D008161:Lumbosacral Region / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009135:Muscular Diseases / Q000150:complications / Q000473:pathology; D020512:Myopathy, Central Core / Q000150:complications*; D013116:Spinal Cord / Q000503:physiopathology*
keywords: Arthrogryposis; Central core disease; Congenital lumbar hernia; Malignant hyperthermia; RYR1