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Category: Volume 11 Issue 02 February 2023
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Title: A rare association of dandy walker variant in a child with Ataxia Telangiectasia

Authors: Dr Shefali P, Dr Sandeep B, Dr Kiran B, Dr Vidyadhar, Dr Chaitrashree

 DOI: https://dx.doi.org/10.18535/jmscr/v11i2.02

Abstract

Ataxia telangiectasia (AT) is an autosomal recessive neurodegenerative disorder caused by mutation in ATM gene. It is a complex multisystem disorder characterized by features of cerebellar degeneration, telangiectasia and immunodeficiency. Association of dandy walker syndrome with ataxia telangiectasia has been rarely reported. Here we present a case of 7year old female child who had features of ataxia telangiectasia and on further evaluation found to have dandy walker variant.

Keywords- ataxia telangiectasia, cerebellar ataxia, ATM gene, neurological impairment

References

  1. Rothblum-Oviatt, C. et al.(2016) “Ataxia telangiectasia: A Review,” Orphanet Journal of Rare Diseases, 11(1). Available at: https://doi.org/10.1186/s13023-016-0543-7. 
  2. Keene, E.J. (2013) “Diagnostic dental radiographs not allowed! A child with ataxia telangiectasia,” European Archives of Paediatric Dentistry, 15(1), pp. 55–57. Available at: https://doi.org/10.1007/s40368-013-0077-9. 
  3. Boder, E. and Sedgwick, R.P. (1958) “Ataxia-telangiectasia,” Pediatrics, 21(4), pp. 526–554. Available at: https://doi.org/10.1542/peds.21.4.526. 
  4. Cabana, M.D. et al.(1998) “Consequences of the delayed diagnosis of ataxia-telangiectasia,” Pediatrics, 102(1), pp. 98–100. Available at: https://doi.org/10.1542/peds.102.1.98.
  5. Chun, H.H. and Gatti, R.A. (2004) “Ataxia–Telangiectasia, an evolving phenotype,” DNA Repair, 3(8-9), pp. 1187–1196. Available at: https://doi.org/10.1016/j.dnarep.2004.04.010. 
  6. Abraham, R.T. (2001) “Cell cycle checkpoint signaling through the ATM and ATR kinases,” Genes & Development, 15(17), pp. 2177–2196. Available at: https://doi.org/10.1101/gad.914401. 
  7. Lavin, M.F. and Shiloh, Y. (1997) “The genetic defect in ataxia-telangiectasia,” Annual Review of Immunology, 15(1), pp. 177–202. Available at: https://doi.org/10.1146/annurev.immunol.15.1.177. 
  8. Shiloh, Y. (2003) “ATM and related protein kinases: Safeguarding genome integrity,” Nature Reviews Cancer, 3(3), pp. 155–168. Available at: https://doi.org/10.1038/nrc1011. 
  9. Shiloh, Y. and Kastan, M.B. (2001) “ATM: Genome stability, neuronal development, and cancer cross paths,” Advances in Cancer Research, pp. 209–254. Available at: https://doi.org/10.1016/s0065-230x(01)83007-4. 
  10. Kastan, M.B. and Lim, D.-sik (2000) “The many substrates and functions of ATM,” Nature Reviews Molecular Cell Biology, 1(3), pp. 179–186. Available at: https://doi.org/10.1038/35043058. 
  11. Imataka, G., Yamanouchi, H. and Arisaka, O. (2007) “Dandy–Walker syndrome and chromosomal abnormalities,” Congenital Anomalies, 47(4), pp. 113–118. Available at: https://doi.org/10.1111/j.1741-4520.2007.00158.x. 
  12. BODER, E.L.E.N.A. (1987) “Ataxia-telangiectasia,” Neurocutaneous Diseases, pp. 95–117. Available at: https://doi.org/10.1016/b978-0-409-90018-7.50014-1. 
  13. BALL, L.G. and XIAO, W. (2005) “Molecular basis of ataxia telangiectasia and related diseases,” Acta PharmacologicaSinica, 26(8), pp. 897–907. Available at: https://doi.org/10.1111/j.1745-7254.2005.00165.x. 
  14. Ichizuka K, Mishina M, Hasegawa J, Matsuoka R, Sekizawa A, Pooh RK. Diagnosis of a case of Dandy-Walker malformation aided by measurement of the brainstem-vermis angle at 14 weeks gestation. J ObstetGynaecol Res. 2015 May;41(5):790-3. doi: 10.1111/jog.12623. Epub 2014 Dec 10. PMID: 25490874.
  15. Greenberger S, Berkun Y, Ben-Zeev B, Levi YB, Barziliai A, Nissenkorn A. Dermatologic manifestations of ataxia-telangiectasia syndrome. J Am Acad Dermatol. 2013 Jun;68(6):932-6. doi: 10.1016/j.jaad.2012.12.950. Epub 2013 Jan 27. PMID: 23360865.
  16. Lin DD, Barker PB, Lederman HM, Crawford TO. Cerebral abnormalities in adults with ataxia-telangiectasia. AJNR Am J Neuroradiol. 2014 Jan;35(1):119-23. doi: 10.3174/ajnr.A3646. Epub 2013 Jul 25. PMID: 23886747; PMCID: PMC4106125.
  17. Nowak J, Horst A. Immunologic heterogeneity of the lymphocyte surface in various diseases. Ann Med Sect Pol Acad Sci. 1975;20(3):173-84. PMID: 1103513.
  18. McGrath-Morrow SA, Lederman HM, Aherrera AD, Lefton-Greif MA, Crawford TO, Ryan T, Wright J, Collaco JM. Pulmonary function in children and young adults with ataxia telangiectasia. PediatrPulmonol. 2014 Jan;49(1):84-90. doi: 10.1002/ppul.22760. Epub 2013 Feb 8. PMID: 23401357; PMCID: PMC4423797.
  19. Bosemani T, Orman G, Boltshauser E, Tekes A, Huisman TA, Poretti A. Congenital abnormalities of the posterior fossa. Radiographics. 2015 Jan-Feb;35(1):200-20. doi: 10.1148/rg.351140038. PMID: 25590398.
  20. McClelland S 3rd, Charnas LR, SantaCruz KS, Garner HP, Lam CH. Progressive brainstem compression in an infant with neurocutaneous melanosis and Dandy-Walker complex following ventriculoperitoneal shunt placement for hydrocephalus. Case report. J Neurosurg. 2007 Dec;107(6 Suppl):500-3. doi: 10.3171/PED-07/12/500. PMID: 18154021.
  21. Spennato P, Mirone G, Nastro A, Buonocore MC, Ruggiero C, Trischitta V, Aliberti F, Cinalli G. Hydrocephalus in Dandy-Walker malformation. Childs Nerv Syst. 2011 Oct;27(10):1665-81. doi: 10.1007/s00381-011-1544-4. Epub 2011 Sep 17. PMID: 21928031.
  22. Economou A, Katsetos CD. Patterns of cognitive and fine motor deficits in a case of Dandy-Walker continuum. J Child Neurol. 2012 Jul;27(7):930-7. doi: 10.1177/0883073811429500. Epub 2012 Jan 12. PMID: 22241712.
  23. Boddaert N, Klein O, Ferguson N, Sonigo P, Parisot D, Hertz-Pannier L, Baraton J, Emond S, Simon I, Chigot V, Schmit P, Pierre-Kahn A, Brunelle F. Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation. Neuroradiology. 2003 May;45(5):320-4. doi: 10.1007/s00234-003-0980-6. Epub 2003 Apr 8. PMID: 12682795.

Corresponding Author

Dr Shefali P

Assistant Professor, Pediatrics Department, East Point College of Medical Sciences and Research Centre, Bangalore, Karnataka