{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,19]],"date-time":"2024-05-19T10:40:17Z","timestamp":1716115217618},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,11,11]],"date-time":"2013-11-11T00:00:00Z","timestamp":1384128000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Sturge-Weber syndrome is a congenital neurocutaneous disorder characterized by facial port-wine stain, leptomeningeal angioma, and neurological disorders. Sturge-Weber syndrome can coexist with other disorders in a few patients; however, muscular abnormalities have not been reported in patients with Sturge-Weber syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>A Chinese girl presented with extensive port-wine stains, congenital bilateral glaucoma, and leptomeningeal angiomatosis. The neurocutaneous symptoms were consistent with the diagnostic criteria of Sturge-Weber syndrome. Meanwhile, episodes of rhabdomyolysis were supported by the recurrent symptoms as follows: exercise intolerance, hyperCKmia, elevated serum myoglobin, and renal failure. Myopathological features and high level of blood long-chain acyl-carnitine indicated that episodes of rhabdomyolysis might be caused by lipid metabolic myopathy. Causative mutations were not found in the CPT2, ACADVL, and GNAQ gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We report the first case that Sturge-Weber syndrome coexists with episodes of rhabdomyolysis associated with lipid metabolic myopathy.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2377-13-169","type":"journal-article","created":{"date-parts":[[2013,11,11]],"date-time":"2013-11-11T08:01:18Z","timestamp":1384156878000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Sturge-Weber syndrome coexisting with episodes of rhabdomyolysis"],"prefix":"10.1186","volume":"13","author":[{"given":"Min","family":"Zhu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaobin","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meihong","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Wan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuchen","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daojun","family":"Hong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,11,11]]},"reference":[{"key":"891_CR1","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1097\/NRL.0b013e318220c5b6","volume":"17","author":"AM Comi","year":"2011","unstructured":"Comi AM: Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist. 2011, 17: 179-184. 10.1097\/NRL.0b013e318220c5b6.","journal-title":"Neurologist"},{"key":"891_CR2","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/B978-0-444-52891-9.00037-3","volume":"111","author":"R Nabbout","year":"2013","unstructured":"Nabbout R, Juh\u00e1sz C: Sturge-Weber syndrome. Handb Clin Neurol. 2013, 111: 315-321.","journal-title":"Handb Clin Neurol"},{"key":"891_CR3","doi-asserted-by":"publisher","first-page":"1971","DOI":"10.1056\/NEJMoa1213507","volume":"368","author":"MD Shirley","year":"2013","unstructured":"Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J: Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ. N Engl J Med. 2013, 368: 1971-1979. 10.1056\/NEJMoa1213507.","journal-title":"N Engl J Med"},{"key":"891_CR4","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1016\/j.pediatrneurol.2008.11.017","volume":"40","author":"A De\u011ferliyurt","year":"2009","unstructured":"De\u011ferliyurt A, Kantar A, Ceylaner S, Aysun S: Hypomelanosis of Ito and Sturge-Weber syndrome without facial nevus: an association or a new syndrome?. Pediatr Neurol. 2009, 40: 395-397. 10.1016\/j.pediatrneurol.2008.11.017.","journal-title":"Pediatr Neurol"},{"key":"891_CR5","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1007\/s11255-012-0243-8","volume":"45","author":"M Niemczyk","year":"2012","unstructured":"Niemczyk M, Niemczyk R, Gradzik M, Niemczyk S, K\u0119cik D, P\u0105czek L: Sturge-Weber syndrome coexisting with autosomal dominant polycystic kidney disease. Int Urol Nephrol. 2012, 45: 923-924.","journal-title":"Int Urol Nephrol"},{"key":"891_CR6","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.pediatrneurol.2008.03.018","volume":"39","author":"AM Comi","year":"2008","unstructured":"Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL: Central hypothyroidism and Sturge-Weber syndrome. Pediatr Neurol. 2008, 39: 58-62. 10.1016\/j.pediatrneurol.2008.03.018.","journal-title":"Pediatr Neurol"},{"key":"891_CR7","doi-asserted-by":"publisher","first-page":"551","DOI":"10.5021\/ad.2011.23.4.551","volume":"23","author":"L Chen","year":"2011","unstructured":"Chen L, Wu J, Xu M, Chen N, Yang Y: Sturge-weber syndrome. Ann Dermatol. 2011, 23: 551-553. 10.5021\/ad.2011.23.4.551.","journal-title":"Ann Dermatol"},{"key":"891_CR8","doi-asserted-by":"crossref","first-page":"114","DOI":"10.4103\/1817-1745.92825","volume":"6","author":"SA Zaki","year":"2011","unstructured":"Zaki SA, Lad V: Sturge-Weber syndrome with bilateral facial nevus and early cerebral calcification. J Pediatr Neurosci. 2011, 6: 114-115.","journal-title":"J Pediatr Neurosci"},{"key":"891_CR9","doi-asserted-by":"crossref","first-page":"129","DOI":"10.3126\/nepjoph.v5i1.7841","volume":"5","author":"P Singh","year":"2013","unstructured":"Singh P, Singh S: Bilateral Sturge Weber Syndrome- a rare case report. Nepal J Ophthalmol. 2013, 5: 129-132.","journal-title":"Nepal J Ophthalmol"},{"key":"891_CR10","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1016\/j.ejpn.2012.12.003","volume":"17","author":"C Zhou","year":"2013","unstructured":"Zhou C, Zhu L, Wu J, Fang S: Atypical Sturge-Weber syndrome requires confirmation. Eur J Paediatr Neurol. 2013, 17: 323-324. 10.1016\/j.ejpn.2012.12.003.","journal-title":"Eur J Paediatr Neurol"},{"key":"891_CR11","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1002\/mus.10053","volume":"25","author":"JD Warren","year":"2002","unstructured":"Warren JD, Blumbergs PC, Thompson PD: Rhabdomyolysis: a review. Muscle Nerve. 2002, 25: 332-347. 10.1002\/mus.10053.","journal-title":"Muscle Nerve"},{"key":"891_CR12","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1001\/archneur.62.1.37","volume":"62","author":"M Deschauer","year":"2005","unstructured":"Deschauer M, Wieser T, Zierz S: Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. Arch Neurol. 2005, 62: 37-41. 10.1001\/archneur.62.1.37.","journal-title":"Arch Neurol"},{"key":"891_CR13","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.ymgme.2013.02.002","volume":"109","author":"M Schiff","year":"2013","unstructured":"Schiff M, Mohsen AW, Karunanidhi A, McCracken E, Yeasted R, Vockley J: Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2013, 109: 21-27. 10.1016\/j.ymgme.2013.02.002.","journal-title":"Mol Genet Metab"},{"key":"891_CR14","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1016\/S0002-9343(00)00315-6","volume":"108","author":"HM Trimarchi","year":"2000","unstructured":"Trimarchi HM, Muryan A, Schropp J, Colombo O, Garc\u00eda A, Pereyra H, Sarachian B, Freixas EA: Focal exertional rhabdomyolysis associated with a hemangioma steal syndrome. Am J Med. 2000, 108: 577-580. 10.1016\/S0002-9343(00)00315-6.","journal-title":"Am J Med"},{"key":"891_CR15","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1016\/S0002-9343(00)00360-0","volume":"108","author":"JP Knochel","year":"2000","unstructured":"Knochel JP: Hemangioma steal syndrome: another cause of exertional rhabdomyolysis. Am J Med. 2000, 108: 594-10.1016\/S0002-9343(00)00360-0.","journal-title":"Am J Med"},{"key":"891_CR16","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1038\/nature07586","volume":"457","author":"CD Van Raamsdonk","year":"2009","unstructured":"Van Raamsdonk CD, Bezrookove V, Green G, Bauer J, Gaugler L, O'Brien JM, Simpson EM, Barsh GS, Bastian BC: Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature. 2009, 457: 599-602. 10.1038\/nature07586.","journal-title":"Nature"},{"key":"891_CR17","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1007\/s00401-009-0611-3","volume":"119","author":"HV K\u00fcsters-Vandevelde","year":"2010","unstructured":"K\u00fcsters-Vandevelde HV, Klaasen A, K\u00fcsters B, Groenen PJ, Van Engen-van Grunsven IA, Van Dijk MR, Reifenberger G, Wesseling P, Blokx WA: Activating mutations of the GNAQ gene: a frequent event in primary melanocytic neoplasms of the central nervous system. Acta Neuropathol. 2010, 119: 317-323. 10.1007\/s00401-009-0611-3.","journal-title":"Acta Neuropathol"},{"key":"891_CR18","doi-asserted-by":"publisher","first-page":"755","DOI":"10.4103\/0019-5154.91848","volume":"56","author":"R Purkait","year":"2011","unstructured":"Purkait R, Samanta T, Sinhamahapatra T, Chatterjee M: Overlap of sturge-weber syndrome and klippel-trenaunay syndrome. Indian J Dermatol. 2011, 56: 755-757. 10.4103\/0019-5154.91848.","journal-title":"Indian J Dermatol"},{"key":"891_CR19","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1097\/WCO.0b013e32830dd5a6","volume":"21","author":"C Bruno","year":"2008","unstructured":"Bruno C, Dimauro S: Lipid storage myopathies. Curr Opin Neurol. 2008, 21: 601-606. 10.1097\/WCO.0b013e32830dd5a6.","journal-title":"Curr Opin Neurol"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2377-13-169.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2377-13-169\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2377-13-169","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2377-13-169.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,19]],"date-time":"2024-05-19T10:01:57Z","timestamp":1716112917000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/1471-2377-13-169"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,11]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["891"],"URL":"https:\/\/doi.org\/10.1186\/1471-2377-13-169","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,11]]},"assertion":[{"value":"26 June 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 November 2013","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 November 2013","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"169"}}