A case report of severe kyphoscoliosis and autofusion of the posterior elements in two siblings with central core disease

Anthony M Sestero, Joseph H Perra


A case report of two siblings (ages 14 and 17 years) with central core disease and prior malignant hyperthermia successfully treated with spinal fusion surgery for severe kyphoscoliosis. Our objectives were as follows: to describe the previously unreported findings of posterior element autofusion and ligamentum flavum ossification; to increase surgeon awareness to the nature of this condition and associated findings; and to prepare the surgeons for the possibility of autofusion and the required surgical modifications, including extensive osteotomies at the time of spinal fusion surgery to achieve correction based on these findings. Central core disease is a rare congenital myopathy with a reported association with kyphoscoliosis. Spinal deformity of this severity in central core disease has not previously been reported in the literature. Two siblings with central core disease, history of malignant hyperthermia, and severe kyphosing scoliosis (187 degrees and 108 degrees) underwent correction of deformity and spinal fusion surgery. The clinical, operative, and radiographic features are detailed. The spinal deformities associated with central core disease in these 2 cases were severe. The posterior elements underwent autofusion n...Continue Reading


Sep 1, 1979·Brain : a Journal of Neurology·V H PattersonJ R Heron
Jan 1, 1982·Journal of the Neurological Sciences·E ByrneJ F Hallpike
Jun 1, 1994·Brain : a Journal of Neurology·A A RaymondB Kendall
Mar 1, 1994·Brain & Development·T NagaiI Nonaka
Jul 1, 1996·Journal of Neurology, Neurosurgery, and Psychiatry·D Tarsy, E Miyawaki
Jul 1, 1996·Journal of Neurology, Neurosurgery, and Psychiatry·P J HalsallP M Hopkins
Jun 17, 1998·The American Journal of Medicine·J Loke, D H MacLennan
Aug 26, 1998·Neuromuscular Disorders : NMD·P J LamontJ A Morgan-Hughes
Jan 5, 2000·British Journal of Anaesthesia·J L CurranF R Ellis
Dec 1, 1956·Brain : a Journal of Neurology·K R MAGEE, G M SHY
Sep 27, 2003·Arquivos de neuro-psiquiatria·Rosana Herminia ScolaLineu Cesar Werneck

Related Concepts

Tumoral Calcinosis
Kyphosis Deformity of Spine
Malignant Hyperpyrexia due to Anesthesia
Scoliosis, Unspecified
Bone Structure of Spine
Structure of Ligamentum Flavum
Central Core Myopathy (Disorder)
Facet Joint Structure

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Synthetic Genetic Array Analysis

Synthetic genetic arrays allow the systematic examination of genetic interactions. Here is the latest research focusing on synthetic genetic arrays and their analyses.

Congenital Hyperinsulinism

Congenital hyperinsulinism is caused by genetic mutations resulting in excess insulin secretion from beta cells of the pancreas. Here is the latest research.

Neural Activity: Imaging

Imaging of neural activity in vivo has developed rapidly recently with the advancement of fluorescence microscopy, including new applications using miniaturized microscopes (miniscopes). This feed follows the progress in this growing field.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Epigenetic Memory

Epigenetic memory refers to the heritable genetic changes that are not explained by the DNA sequence. Find the latest research on epigenetic memory here.

Cell Atlas of the Human Eye

Constructing a cell atlas of the human eye will require transcriptomic and histologic analysis over the lifespan. This understanding will aid in the study of development and disease. Find the latest research pertaining to the Cell Atlas of the Human Eye here.

Femoral Neoplasms

Femoral Neoplasms are bone tumors that arise in the femur. Discover the latest research on femoral neoplasms here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Related Papers

European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
Shiro ImagamaNaoki Ishiguro
Chirurgie pédiatrique
A Campo-PaysaaA Nouvel
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation
Kazuaki FukaharaReiner Koerfer
The Spine Journal : Official Journal of the North American Spine Society
Takao MotosuneyaKyosuke Fujikawa
© 2021 Meta ULC. All rights reserved