{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T12:02:19Z","timestamp":1698062539291},"reference-count":9,"publisher":"Scientific Scholar","content-domain":{"domain":["surgicalneurologyint.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:sec id=\"st1\">\n<jats:title>Background: <\/jats:title>\n<jats:p>Megalencephaly-capillary malformation (M-CM) syndrome is a rare overgrowth syndrome characterized by macrocephaly, port-wine stains, asymmetric brain growth, hydrocephalus, and developmental delay. Cerebellar tonsil herniation is often seen, but rarely with syringomyelia.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"st2\">\n<jats:title>Case Description: <\/jats:title>\n<jats:p>A newborn with M-CM syndrome developed a progressive Chiari malformation type I (CM-I) with syringomyelia. At 4 months, he was treated for subdural hematomas, while at 10 months, he required a shunt for hydrocephalus. At 16 years of age, he newly presented a left hemiparesis and ataxia. Notably, successive volumetric measurements of the posterior fossa\/cerebellum showed disproportionate cerebellar growth over time that correlated with the appearance of a CM-I. Following a suboccipital craniectomy with C1-laminectomy and duraplasty, he neurologically improved.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"st3\">\n<jats:title>Conclusion: <\/jats:title>\n<jats:p>M-CM with CM-I and syringomyelia rarely present together. Here, we treated an infant with M-CM who developed a progressive CM-I malformation and syringomyelia reflecting disproportionate growth of the cerebellum\/posterior fossa over a 16-year period.<\/jats:p>\n<\/jats:sec>","DOI":"10.25259\/sni_1016_2021","type":"journal-article","created":{"date-parts":[[2022,5,20]],"date-time":"2022-05-20T12:44:38Z","timestamp":1653050678000},"page":"211","update-policy":"http:\/\/dx.doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia"],"prefix":"10.25259","volume":"13","author":[{"given":"Tom","family":"Deleu","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, University Hospitals Leuven, Leuven, Belgium."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrien","family":"Jansen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank Van","family":"Calenbergh","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University Hospitals Leuven, Leuven, Belgium."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2022,5,20]]},"reference":[{"key":"10.25259\/SNI_1016_2021\/ref-1","doi-asserted-by":"crossref","first-page":"161","DOI":"10.3171\/2014.10.PEDS14295","article-title":"Pediatric and adult Chiari malformation Type I surgical series 1965-2013: A review of demographics, operative treatment, and outcomes","volume":"15","author":"Arnautovic","year":"2015","journal-title":"J Neurosurg Pediatr"},{"key":"10.25259\/SNI_1016_2021\/ref-2","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1097\/00019605-199710000-00001","article-title":"Macrocephaly with cutis marmorata, haemangioma and syndactyly a distinctive overgrowth syndrome","volume":"6","author":"Clayton-Smith","year":"1997","journal-title":"Clin Dysmorphol"},{"key":"10.25259\/SNI_1016_2021\/ref-3","doi-asserted-by":"crossref","first-page":"2981","DOI":"10.1002\/ajmg.a.32040","article-title":"Neuroimaging findings in Macrocephaly-Capillary malformation: A longitudinal study of 17 patients","volume":"143","author":"Conway","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.25259\/SNI_1016_2021\/ref-4","doi-asserted-by":"crossref","first-page":"3101","DOI":"10.1002\/ajmg.a.33514","article-title":"Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria","volume":"152A","author":"Mart\u00ednez-Glez","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.25259\/SNI_1016_2021\/ref-5","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ajmg.a.34402","article-title":"Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyriahydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis","volume":"158A","author":"Mirzaa","year":"2012","journal-title":"Am J Med Genet A"},{"key":"10.25259\/SNI_1016_2021\/ref-6","doi-asserted-by":"crossref","first-page":"110213","DOI":"10.1016\/j.ijporl.2020.110213","article-title":"Lemierre\u2019s syndrome in the pediatric population: Trends in disease presentation and management in literature","volume":"136","author":"Patel","year":"2020","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"10.25259\/SNI_1016_2021\/ref-7","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1038\/ng.2331","article-title":"De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes","volume":"44","author":"Rivi\u00e8re","year":"2012","journal-title":"Nat Genet"},{"key":"10.25259\/SNI_1016_2021\/ref-8","doi-asserted-by":"crossref","first-page":"205","DOI":"10.3171\/2011.5.PEDS1121","article-title":"Chiari malformation Type I and syrinx in children undergoing magnetic resonance imaging: Clinical article","volume":"8","author":"Strahle","year":"2011","journal-title":"J Neurosurg Pediatr"},{"key":"10.25259\/SNI_1016_2021\/ref-9","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1001\/archdermatol.2008.545","article-title":"The misnomer \u201cmacrocephaly-cutis marmorata telangiectatica congenita syndrome\u201d report of 12 new cases and support for revising the name to macrocephaly-capillary malformations","volume":"145","author":"Wright","year":"2009","journal-title":"Arch Dermatol"}],"container-title":["Surgical Neurology International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/surgicalneurologyint.com\/brain-overgrowth-associated-with-megalencephaly-capillary-malformation-syndrome-causing-progressive-chiari-and-syringomyelia\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/surgicalneurologyint.com\/surgicalint-articles\/brain-overgrowth-associated-with-megalencephaly-capillary-malformation-syndrome-causing-progressive-chiari-and-syringomyelia\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,20]],"date-time":"2022-05-20T12:44:47Z","timestamp":1653050687000},"score":1,"resource":{"primary":{"URL":"http:\/\/surgicalneurologyint.com\/surgicalint-articles\/brain-overgrowth-associated-with-megalencephaly-capillary-malformation-syndrome-causing-progressive-chiari-and-syringomyelia\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,20]]},"references-count":9,"alternative-id":["10.25259\/SNI_1016_2021"],"URL":"https:\/\/doi.org\/10.25259\/sni_1016_2021","relation":{},"ISSN":["2152-7806"],"issn-type":[{"value":"2152-7806","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,20]]},"article-number":"211"}}