RYR1-related malignant hyperthermia with marked cerebellar involvement - A paradigm of heat-induced CNS injury?

Neuromuscular Disorders

Volumn 25, Issue 2, 2015, Pages 138-140

  Forrest, Katharine M L ^a   Foulds, Nicola ^b,c   Millar, John S ^d   Sutherland, Paul D ^d   Pappachan, V John ^d   Holden, Samantha ^d   Mein, Rachael ^e   Hopkins, Philip M ^f   Jungbluth, Heinz ^g,h,i  

^a SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^d UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^e GUY S HOSPITAL   (United Kingdom)

^f UNIVERSITY OF LEEDS   (United Kingdom)

^g EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^h KING'S COLLEGE LONDON   (United Kingdom)

ⁱ KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Cerebellum; Heat induced injury; Malignant hyperthermia (MH); Malignant hyperthermia susceptibility (MHS); Skeletal muscle ryanodine receptor (RYR1) gene

Indexed keywords

CREATINE KINASE; DANTROLENE; METHIONINE; RYANODINE RECEPTOR 1; VALINE; RYANODINE RECEPTOR;

ADOLESCENT; ANESTHESIA INDUCTION; APPENDICITIS; ARTICLE; AUTOPSY; BRAIN EDEMA; BRAIN HERNIA; CASE REPORT; CELL DEGENERATION; CEREBELLUM DEGENERATION; CEREBELLUM DISEASE; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; CREATINE KINASE BLOOD LEVEL; DECOMPRESSIVE CRANIECTOMY; DISEASE ASSOCIATION; DISEASE SEVERITY; DISSEMINATED INTRAVASCULAR CLOTTING; END TIDAL CARBON DIOXIDE TENSION; EXERCISE; EXTRACORPOREAL OXYGENATION; GENE EXPRESSION REGULATION; GENERAL ANESTHESIA; HEART ARREST; HEAT INDUCED CENTRAL NERVOUS SYSTEM INJURY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROCEPHALUS; HYPERPYREXIA; HYPOXIC ISCHEMIC ENCEPHALOPATHY; LEG CRAMP; LEG PAIN; LUNG EDEMA; LUNG HEMORRHAGE; MALE; MALIGNANT HYPERTHERMIA; MEDICAL HISTORY; MUTATIONAL ANALYSIS; MYALGIA; MYOGLOBINURIA; NERVOUS SYSTEM INJURY; NUCLEAR MAGNETIC RESONANCE IMAGING; PURKINJE CELL; RESUSCITATION; RYR1 GENE; SWELLING; TORTICOLLIS; APPENDECTOMY; CEREBELLUM; FEVER; GENETICS; MUTATION; PATHOLOGY;

ADOLESCENT; APPENDECTOMY; CEREBELLUM; FEVER; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84921029415     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.10.008     Document Type: Article

References (13)

1. Gore I., Isaacson N.H. The pathology of hyperpyrexia; observations at autopsy in 17 cases of fever therapy. Am J Pathol 1949, 25:1029-1059.
2. Bazille C., Megarbane B., Bensimhon D., et al. Brain damage after heat stroke. J Neuropathol Exp Neurol 2005, 64:970-975.
3. Jungbluth H., Sewry C.A., Muntoni F. Core myopathies. Semin Pediatr Neurol 2011, 18:239-249.
4. Rosenberg H., Davis M., James D., Pollock N., Stowell K. Malignant hyperthermia. Orphanet J Rare Dis 2007, 2:21.
5. Dlamini N., Voermans N.C., Lillis S., et al. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscul Disord 2013, 23:540-548.
6. Gehlert S., Bungartz G., Willkomm L., et al. Intense resistance exercise induces early and transient increases in ryanodine receptor 1 phosphorylation in human skeletal muscle. PLoS ONE 2012, 7:e49326.
7. Howard R.S., Holmes P.A., Koutroumanidis M.A. Hypoxic-ischaemic brain injury. Pract Neurol 2011, 11:4-18.
8. Howard R.S., Holmes P.A., Siddiqui A., Treacher D., Tsiropoulos I., Koutroumanidis M. Hypoxic-ischaemic brain injury: imaging and neurophysiology abnormalities related to outcome. QJM 2012, 105:551-561.
9. Mori F., Fukaya M., Abe H., Wakabayashi K., Watanabe M. Developmental changes in expression of the three ryanodine receptor mRNAs in the mouse brain. Neurosci Lett 2000, 285:57-60.
10. Kakizawa S., Yamazawa T., Chen Y., et al. Nitric oxide-induced calcium release via ryanodine receptors regulates neuronal function. EMBO J 2012, 31:417-428.
11. Durham W.J., Aracena-Parks P., Long C., et al. RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. Cell 2008, 133:53-65.
12. Phillips K.F., Deshpande L.S., DeLorenzo R.J. Hypothermia reduces calcium entry via the N-methyl-D-aspartate and ryanodine receptors in cultured hippocampal neurons. Eur J Pharmacol 2013, 698:186-192.
13. Park J.W., Choi Y.B., Park S.K., Kim Y.I., Lee K.S. Magnetic resonance imaging reveals selective vulnerability of the cerebellum and basal ganglia in malignant hyperthermia. Arch Neurol 2004, 61:1462-1463.