Journal of Korean Neurosurgical Society

The Korean Neurosurgical Society (대한신경외과학회)
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The First Neurosurgical Analysis of 8 Korean Children with Sotos Syndrome

  • Lim, Jae-Joon (Department of Neurosurgery, Ajou University School of Medicine) ;
  • Yoon, Soo-Han (Department of Neurosurgery, Ajou University School of Medicine)
  • Published : 2008.10.28
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Abstract

Objective : Sotos Syndrome is characterized by macrocephaly, overgrowth, and developmental delay, and more than 300 patients have been reported worldwide to date. The authors reviewed the clinical characteristics of 8 patients with Sotos Syndrome in Korea for a new understanding and treatment strategies. Methods : The medical records of a total of eight Korean children with Sotos Syndrome were reviewed. All patients underwent developmental checkup, lumbar punctures for measurement of intracranial pressure (ICP), brain and spine magnetic resonance imaging and computerized tomography. Results : All 8 patients showed macrocephaly and the characteristic craniofacial features of Sotos Syndrome. Other clinical characteristics shown were overgrowth (7/8), developmental delay (7/8), congenital heart defect (3/8), flat foot (8/8), scoliosis (4/8), spina bifida (8/8), hydrocephalus (4/8), cavum vergae (3/8), and increased subdural fluid collection (5/8). Mean ICP measured via lumbar puncture was $27.35{\pm}6.25\;cm$ $H_2O$ (range 20 to 36 cm $H_2O$). Two patients received ventriculo-peritoneal shunt, and 1 patient underwent subduro-peritoneal shunt with improvement. Spinal orthosis was applied to 4/5 patients with scoliosis and 4/8 children with flat foot were provided with foot orthosis. Conclusion : In this first Korean study of 8 Sotos Syndrome patients we demonstrated the presence of spina bifida and increased ICP, which had not been previously described. The authors therefore suggest that all patients with Sotos Syndrome should undergo examination for the presence of spina bifida, and that shunt procedures would improve development and alleviate clinical symptoms.

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References

  1. Ahn HJ, Kim YT, Seol IH, Shin JH : Two Cases of Cerebral Gigantism (Sotos Syndrome). J Korean Pediatr Soc 33 : 1153-1156, 1990
  2. Allanson JE, Cole TR : Sotos Syndrome : evolution of facial phenotype subjective and objective assessment. Am J Med Genet 65 : 13-20, 1996 https://doi.org/10.1002/(SICI)1096-8628(19961002)65:1<13::AID-AJMG2>3.0.CO;2-Z
  3. Aoki N : Chronic subdural hematoma in infancy. Clinical analysis of 30 cases in the CT era. J Neurosurg 73 : 201-205, 1990 https://doi.org/10.3171/jns.1990.73.2.0201
  4. Aoki N, Oikawa A, Sakai T : Serial neuroimaging studies in Sotos Syndrome (cerebral gigantism Syndrome). Neurol Res 20 : 149-152, 1998 https://doi.org/10.1080/01616412.1998.11740498
  5. Cohen MM Jr : Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth Syndromes. Am J Med Genet C Semin Med Genet 117C : 49-56, 2003 https://doi.org/10.1002/ajmg.c.10013
  6. Cole TR, Hughes HE: Sotos Syndrome : a study of the diagnostic criteria and natural history. J Med Genet 31 : 20-32, 1994 https://doi.org/10.1136/jmg.31.1.20
  7. Haga N, Nakamura S, Shimode M, Yanagisako Y, Iwaya T : Scoliosis in cerebral gigantism, Sotos Syndrome. A case report. Spine 21 : 1699-1702, 1996 https://doi.org/10.1097/00007632-199607150-00017
  8. Kaneko H, Tsukahara M, Tachibana H, Kurashige H, Kuwano A, Kajii T : Congenital heart defects in Sotos sequence. Am J Med Genet 26 : 569-576, 1987 https://doi.org/10.1002/ajmg.1320260310
  9. Kim IS, Kim JH, Choi YY, Ma JS, Hwang TJ : A Case of Sotos Syndrome. J Korean Pediatr Soc 38 : 725-729, 1995
  10. Kim SB, Yang S, Kim HD, Oh PS, Cha JK, Shin JH : A Case of Cerebral Gigantism (Sotos Syndrome). J Korean Soc Pediatr Endocrinol 7 : 122-127, 2002
  11. Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, et al : Haploinsufficiency of NSD1 causes Sotos Syndrome. Nat Genet 30 : 365-366, 2002 https://doi.org/10.1038/ng863
  12. Motohashi N, Pruzansky S, Kawata T : Roentgencephalometric analysis of cerebral gigantism : report of four patients. J Craniofac Genet Dev Biol 1 : 73-94, 1981
  13. Opitz JM, Weaver DW, Reynolds JF Jr : The Syndromes of Sotos and Weaver : reports and review. Am J Med Genet 79 : 294-304, 1998 https://doi.org/10.1002/(SICI)1096-8628(19981002)79:4<294::AID-AJMG12>3.0.CO;2-M
  14. Park SW, Park MS, Hwang JS, Shin YS, Yoon SH : A case of Sotos Syndrome with subduroperitoneal shunt. Pediatr Neurosurg 42 : 174-179, 2006 https://doi.org/10.1159/000091863
  15. Sarimski K : Behavioural and emotional characteristics in children with Sotos Syndrome and learning disabilities. Dev Med Child Neurol 45 : 172-178, 2003 https://doi.org/10.1111/j.1469-8749.2003.tb00926.x
  16. Schaefer GB, Bodensteiner JB, Buehler BA, Lin A, Cole TR : The neuroimaging findings in Sotos Syndrome. Am J Med Genet 68 : 462-465, 1997 https://doi.org/10.1002/(SICI)1096-8628(19970211)68:4<462::AID-AJMG18>3.0.CO;2-Q
  17. Sotos JF, Overgrowth, Section V : Syndromes and other disorders associated with overgrowth. Clin Pediatr (Phila) 36 : 89-103, 1997 https://doi.org/10.1177/000992289703600206
  18. Sotos JF, Dodge PR, Muirhead DD, Crawford JD, Talbot NB : Cerebral gigantism in childhood. A Syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder. N Engl J Med 271 : 109-116, 1964 https://doi.org/10.1056/NEJM196407162710301
  19. Srour M, Mazer B, Shevell M : Diagnosing Sotos Syndrome in the setting of global developmental delay and macrocephaly. J Child Neurol 21 : 287-290, 2006 https://doi.org/10.1177/08830738060210042201
  20. Sweeney E, Fryer A, Donnai D : Sotos Syndrome: two cases with severe scoliosis. Clin Dysmorphol 11 : 121-124, 2002 https://doi.org/10.1097/00019605-200204000-00009
  21. Takei K, Sueishi K, Yamaguchi H, Ohtawa Y : Dentofacial growth in patients with Sotos syndrome. Bull Tokyo Dent Coll 48 : 73-85, 2007 https://doi.org/10.2209/tdcpublication.48.73
  22. Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, et al : Genotype-phenotype associations in Sotos Syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet 77 : 193-204, 2005 https://doi.org/10.1086/432082

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