Case Report
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A Case of Sotos Syndrome With Congenital Sacrococcygeal Teratoma

Year 2019, Volume: 1 Issue: 1, 44 - 46, 01.11.2019
https://doi.org/10.38175/phnx.634229

Abstract

Sotos syndrome is one of
the most common overgrowth syndromes. It was first described by Juan Sotos in 1964.
The incidence has been reported 1: 14,000. Major findings of the diseases include
overgrowth associated with advanced bone age, learning disability, and specific
facial dysmorphism. Although most of the cases are sporadic, cases with
autosomal dominant inheritance have also been reported. The NSD1 gene associated with the disease is
localized to the q35 region of chromosome 5. The likelihood of symptoms, such
as tumors, hypermetropia, strabismus, and hypoglycemic attacks are quite
unlikely. However, it is recommended that all patients be monitored for tumors
such as teratoma and neuroblastoma. In this article, we present a rare case of
Sacrococcygeal teratoma diagnosed with Sotos syndrome in our center.

References

  • 1. Edmondson AC, Kalish JM. Overgrowth Syndromes. J Pediatr Genet. 2015 Sep;4(3):136-43. DOI: 10.1055/s-0035-1564440.
  • 2. Neri G, Moscarda M. Overgrowth syndromes: a classification. Endocr Dev. 2009; 14:53-60.
  • 3. Sotos JF, Dodge PR, Muirhead DD, Crawford JD, Talbot NB. A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder. N Engl J Med 1964; 271: 109–116.
  • 4. Visser R, Matsumoto N. Genetics of Sotos syndrome. Curr Opin Pediatr 2003;15:598–606.
  • 5. Tatton-Brown K, Cole TRP, Rahman N. Sotos Syndrome. 2004 Dec 17 [Updated 2019 Aug 1]. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1479/
  • 6. Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S et al. Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug;77(2):193-204.
  • 7. Sotos JF, Argente J. Overgrowth disorders associated with tall stature. Adv Pediatr. 2008;55:213–254.
  • 8. Gracia Bouthelier R, Lapunzina P. Follow-up and risk of tumors in overgrowth syndromes. J Pediatr Endocrinol Metab. 2005 Dec;18(Suppl 1):1227–1235.
  • 9. Baujat G, Cormier-Daire V. Sotos syndrome. Orphanet J Rare Dis. 2007 Sep 7;2:36.
  • 10. Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Rivière JP, Rossignol S. Perlman syndrome: report, prenatal findings, and review. Am J Med Genet A. 2008 Oct 1;146A(19):2532.
  • 11. Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet. 2003;11:858–65.
  • 12. Maino DM, Kofman J, Flynn MF, Lai L. Ocular manifestations of Sotos syndrome. J Am Optom Assoc. 1994 May;65(5):339-46.
  • 13. Leonard NJ, Cole T, Bhargava R, Honoré LH, Watt J. Sacrococcygeal teratoma in two cases of Sotos syndrome. Am J Med Genet. 2000 Nov 13;95(2):182-4.
  • 14. Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, et al. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Am J Med Genet A. 2019 Apr;179(4):542-551.

Konjenital Sakrokoksigeal Teratomlu Bir Sotos Sendromu Vakası

Year 2019, Volume: 1 Issue: 1, 44 - 46, 01.11.2019
https://doi.org/10.38175/phnx.634229

Abstract

Sotos sendromu aşırı
büyüme sendromları arasında yer alır. İlk defa Juan Sotos tarafından 1964
yılında tanımlanmıştır. Görülme sıklığı 1:14.000 olarak bildirilmiştir. Hastalığın
major bulguları: İlerlemiş kemik yaşının eşlik ettiği aşırı büyüme, öğrenme
güçlüğü ve kendine özgü fasial dismorfizmdir. Vakaların çoğu sporadik olmakla
birlikte otozomal dominant olarak kalıtılan olgular da rapor edilmiştir.
Hastalıkla ilişkilendirilen NSD1 geni
5. Kromozomun q35 bölgesine lokalize olmuştur. Tümör, hipermetropi, strabismus
ve hipoglisemik atak gibi bulguların görülme olasılığı oldukça düşüktür. Buna
rağmen, bütün hastaların teratom ve nöroblastom gibi tümörler açısından
izlenilmesi önerilmektedir. Bu makalede merkezimizde Sotos sendromu tanısı
konulan ve nadir görülen Sakrokoksigeal teratomla seyreden  bir olgu sunulacaktır.

References

  • 1. Edmondson AC, Kalish JM. Overgrowth Syndromes. J Pediatr Genet. 2015 Sep;4(3):136-43. DOI: 10.1055/s-0035-1564440.
  • 2. Neri G, Moscarda M. Overgrowth syndromes: a classification. Endocr Dev. 2009; 14:53-60.
  • 3. Sotos JF, Dodge PR, Muirhead DD, Crawford JD, Talbot NB. A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder. N Engl J Med 1964; 271: 109–116.
  • 4. Visser R, Matsumoto N. Genetics of Sotos syndrome. Curr Opin Pediatr 2003;15:598–606.
  • 5. Tatton-Brown K, Cole TRP, Rahman N. Sotos Syndrome. 2004 Dec 17 [Updated 2019 Aug 1]. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1479/
  • 6. Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S et al. Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug;77(2):193-204.
  • 7. Sotos JF, Argente J. Overgrowth disorders associated with tall stature. Adv Pediatr. 2008;55:213–254.
  • 8. Gracia Bouthelier R, Lapunzina P. Follow-up and risk of tumors in overgrowth syndromes. J Pediatr Endocrinol Metab. 2005 Dec;18(Suppl 1):1227–1235.
  • 9. Baujat G, Cormier-Daire V. Sotos syndrome. Orphanet J Rare Dis. 2007 Sep 7;2:36.
  • 10. Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Rivière JP, Rossignol S. Perlman syndrome: report, prenatal findings, and review. Am J Med Genet A. 2008 Oct 1;146A(19):2532.
  • 11. Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet. 2003;11:858–65.
  • 12. Maino DM, Kofman J, Flynn MF, Lai L. Ocular manifestations of Sotos syndrome. J Am Optom Assoc. 1994 May;65(5):339-46.
  • 13. Leonard NJ, Cole T, Bhargava R, Honoré LH, Watt J. Sacrococcygeal teratoma in two cases of Sotos syndrome. Am J Med Genet. 2000 Nov 13;95(2):182-4.
  • 14. Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, et al. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Am J Med Genet A. 2019 Apr;179(4):542-551.
There are 14 citations in total.

Details

Primary Language Turkish
Subjects Genetics, Paediatrics
Journal Section Case Reports
Authors

Mustafa Tarık Alay

Aysel Kalaycı Yiğin

Filiz Özdemir This is me

Uğur Gümüş This is me

Zeynep Ocak

Mehmet Seven This is me

Publication Date November 1, 2019
Submission Date October 17, 2019
Acceptance Date October 25, 2019
Published in Issue Year 2019 Volume: 1 Issue: 1

Cite

Vancouver Alay MT, Kalaycı Yiğin A, Özdemir F, Gümüş U, Ocak Z, Seven M. Konjenital Sakrokoksigeal Teratomlu Bir Sotos Sendromu Vakası. Phnx Med J. 2019;1(1):44-6.

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