Skip to main content

Advertisement

Log in

Medulloblastoma in association with sacral agenesis; a case report

  • Case Report
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Medulloblastoma is a congenital brain tumor which can be associated with different congenital anomalies. However, coincidence of cerebellar medulloblastoma with sacral agenesis has not been reported so far. A variety of genetic and/or environmental predisposing factors have been proposed for both diseases. Herein, an unprecedented coincidence of these two conditions is presented. A neonate was born with lumbosacral agenesis, paraplegia, and atrophic legs, and he developed medulloblastoma with three ventricular hydrocephalus 3 years later. Different aspects regarding the embryology and etiology of both ailments are discussed, assuming the possibility that the same genetic and/or environmental risk factors may have played a part in both conditions.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Berrebi D, Lebras MN, Belarbi N, Couturier J, Fattet S, Faye A et al (2006) Bilateral adrenal neuroblastoma and nephroblastoma occurring synchronously in a child with Fanconi’s anemia and VACTERL syndrome. J Pediatr Surg 41(1):11–14

    Article  Google Scholar 

  2. Budorick NE, Pretorius DH, Grafe MR, Lou KV (1991) Ossification of the fetal spine. Radiology 181(2):561–565. https://doi.org/10.1148/radiology.181.2.1924805

    Article  PubMed  CAS  Google Scholar 

  3. De Biasio P, Ginocchio G, Aicardi G, Ravera G, Venturini PL, Vignolo M (2003) Ossification timing of sacral vertebrae by ultrasound in the mid-second trimester of pregnancy. Prenat Diagn 23(13):1056–1059. https://doi.org/10.1002/pd.722

    Article  PubMed  Google Scholar 

  4. Gorlin RJ, Goltz RW (1960) Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 262(18):908–912. https://doi.org/10.1056/NEJM196005052621803

    Article  PubMed  CAS  Google Scholar 

  5. Guszkiewicz E, Jezela-Stanek A, Marsza E, Kalemba B, Jamroz E (2005) Coffin-Siris syndrome in a four-year-old girl: a case presentation. Int J Pediatr Neonatol 5(2):1–5 https://print.ispub.com/api/0/ispub-article/11395

    Google Scholar 

  6. Horn D, Tönnies H, Neitzel H, Wahl D, Hinkel GK, von Moers A et al (2004) Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3. Am J Med Genet A 128A(1):85–92. https://doi.org/10.1002/ajmg.a.30031

    Article  PubMed  Google Scholar 

  7. Koontz NA, Hess CP (2010) AJR teaching file: brain tumor in a patient with familial adenomatous polyposis. AJR Am J Roentgenol 195(3):S25–S28. https://doi.org/10.2214/AJR.07.7128

    Article  PubMed  Google Scholar 

  8. Lendon RG (1975) The embryogenesis of trypan-blue induced spina bifida aperta and short tail in the rat. Dev Med Child Neurol Suppl 35:3–10

    Google Scholar 

  9. Liu F, Zhang Z, Lin X, Teng G, Meng H, Yu T, Fang F, Zang F, Li Z, Liu S (2011) Development of the human fetal cerebellum in the second trimester: a post mortem magnetic resonance imaging evaluation. J Anat 219(5):582–588. https://doi.org/10.1111/j.1469-7580.2011.01418.x

    Article  PubMed  PubMed Central  Google Scholar 

  10. Merello E, De Marco P, Mascelli S, Raso A, Calevo MG, Torre M, Cama A, Lerone M, Martucciello G, Capra V (2006) HLXB9 homeobox gene and caudal regression syndrome. Birth Defects Res A Clin Mol Teratol 76(3):205–209. https://doi.org/10.1002/bdra.20234

    Article  PubMed  CAS  Google Scholar 

  11. Newman CA, Reuther WL, Wakabayashi MN, Payette MM, Plavsic BM (1999) Gastrointestinal case of the day. Gardner syndrome. Radiographics 19(2):546–548. https://doi.org/10.1148/radiographics.19.2.g99mr21546

    Article  PubMed  CAS  Google Scholar 

  12. Padmanabhan R (1998) Retinoic acid-induced caudal regression syndrome in the mouse fetus. Reprod Toxicol 12(2):139–151. https://doi.org/10.1016/S0890-6238(97)00153-6

    Article  PubMed  CAS  Google Scholar 

  13. Pavone P, Ruggieri M, Lombardo I, Sudi J, Biancheri R, Castellano-Chiodo D, Rossi A, Incorpora G, Nowak NJ, Christian SL, Pavone L, Dobyns WB (2010) Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. Eur J Pediatr 169(4):475–481. https://doi.org/10.1007/s00431-009-1061-6

    Article  PubMed  Google Scholar 

  14. Rojansky N, Fasouliotis SJ, Ariel I, Nadjari M (2002) Extreme caudal agenesis. Possible drug-related etiology? J Reprod Med 47(3):241–245

    PubMed  Google Scholar 

  15. Rufener SL, Ibrahim M, Raybaud CA, Parmar HA (2010) Congenital spine and spinal cord malformations—pictorial review. AJR Am J Roentgenol 194(3):S26–S37. https://doi.org/10.2214/AJR.07.7141

    Article  PubMed  Google Scholar 

  16. Schweitzer S, Hogge JP, Grimes M, Bear HD, de Paredes ES (1999) Cowden disease: a cutaneous marker for increased risk of breast cancer. AJR Am J Roentgenol 172(2):349–351. https://doi.org/10.2214/ajr.172.2.9930780

    Article  PubMed  CAS  Google Scholar 

  17. Semba K, Ki Y (2013) Etiology of caudal regression syndrome. Human Genet Embryol 3(02):107. https://doi.org/10.4172/2161-0436.1000107

    Article  Google Scholar 

  18. Shinagare AB, Giardino AA, Jagannathan JP, Van den Abbeele AD, Ramaiya NH (2011) Hereditary cancer syndromes: a radiologist's perspective. AJR Am J Roentgenol 197(6):W1001–W1007. https://doi.org/10.2214/AJR.11.6465

    Article  PubMed  Google Scholar 

  19. Stroustrup Smith A, Grable I, Levine D (2004) Case 66: caudal regression syndrome in the fetus of a diabetic mother. Radiology 230(1):229–233

    Article  PubMed  Google Scholar 

  20. Taylor MD, Northcott PA, Korshunov A, Remke M, Cho YJ, Clifford SC (2012) Molecular subgroups of medulloblastoma: the current consensus. Acta Neuropathol 123(4):465–472. https://doi.org/10.1007/s00401-011-0922-z

    Article  PubMed  CAS  Google Scholar 

  21. Unsinn KM, Geley T, Freund MC, Gassner I (2000) US of the spinal cord in newborns: spectrum of normal findings, variants, congenital anomalies, and acquired diseases. Radiographics 20(4):923–938. https://doi.org/10.1148/radiographics.20.4.g00jl06923

    Article  PubMed  CAS  Google Scholar 

  22. von Ehrenstein OS, Heck JE, Park AS, Cockburn M, Escobedo L, Ritz B (2016) In utero and early-life exposure to ambient air toxics and childhood brain tumors: a population-based case-control study in California, USA. Environ Health Perspect 124(7):1093–1099

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Zohreh Habibi.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Soltani, Z.E., Habibi, Z. & Nejat, F. Medulloblastoma in association with sacral agenesis; a case report. Childs Nerv Syst 34, 1263–1266 (2018). https://doi.org/10.1007/s00381-018-3737-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-018-3737-6

Keywords

Navigation