The Complexity of Early Diagnosis of Congenital Ataxia: A Case Report.

  • Olena Koreniuk Department of Propedeutics of Pediatric Diseases, SI "Dnipropetrovsk Medical Academy of the Ministry of Health of Ukraine."
  • Svitlana Ilchenko
  • Anne P. Hernandez
Keywords: congenital ataxia, telangiectasia, children, the complexity of diagnosis


Ataxia-telangiectasia (AT) is a rare form of phakomatoses with multisystem lesions that are characterized by a specific neuro-cutaneous syndrome. AT is a multisystem disease that includes progressive clinical manifestations of cerebral ataxia, oculocutaneous telangiectasia, and increased susceptibility to cancer due to ionizing radiation sensitivity. Lack of awareness of this disease by medical providers could ultimately lead to a delay in diagnosis and increase morbidity in patients. This case study presents the history of a female adolescent patient, who was eventually placed in protective custody with congenital AT. She was clinically observed for fifteen years. This paper demonstrates the complexity of early diagnosis of AT in children. The importance of a comprehensive evaluation of neural and immunological systems, timely genetic testing, and aggressive treatment of infectious diseases is paramount in the formulation of an appropriate treatment plan. Early diagnosis and management significantly improve the prognosis and quality of life for these patients.


1. Klyushnikov SA, Illarioshkin SN Algoritm diagnostiki nasledstvennyh ataksij. Nervnye bolezni. 2012.1: 7-12. Available from: articles / nervo / an_1_2012_07.pdf
2. Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia-telangiectasia: a review. Orphanet J Rare Dis. 2016 Nov 25; 11 (1): 159. DOI: 10.1186 / s13023-016-0543-7.
3. Kurlemann G. Neurocutaneous syndrome. Handb Clin Neurol. 2012; 108: 513-33. DOI: 10.1016 / B978-0-444-52899-5.00046-0.
4. Teive HA, Moro A, Moscovich M, Arruda WO, Munhoz RP, Raskin S, Ashizawa TJ Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. Neurol Sci. 2015 Aug 15; 355 (1-2): 3-6. DOI: 10.1016 / j.jns.2015.05.022.
5. Zaki-Dizaji M, Akrami SM, Abolhassani H, Rezaei N, Aghamohammadi A. Ataxia telangiectasia syndrome: moonlighting ATM. Expert Rev Clin Immunol. 2017 Dec; 13 (12): 1155-1172. DOI: 10.1080 / 1744666X.2017.1392856.
6. Cavalieri S, Funaro A, Pappi P, Migone N, Gatti RA, Brusco A. Large genomic mutations within the ATM gene detected by MLPA, including duplication of 41 kb from exon 4 to 20. Ann Hum Genet. 2008; 72: 10-8. DOI: 10.1111 / j.1469-1809.2007.00399.x.
7. Chun HH, Sun X, Nahas SA, Teraoka S, Lai CH, Concannon P, Gatti RA. Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Mol Genet Metab. 2003; 80: 437-43.DOI: 10.1016 / j.ymgme.2003.09.008.
8. Verhagen MM, Martin JJ, van Deuren M, Ceuterick-de Groote C, Weemaes CM, Kremer BH, Taylor MA, Willemsen MA, Lammens M. Neuropathology in classical and variant ataxia-telangiectasia. Neuropathology. 2012 Jun; 32 (3): 234-44. doi: 10.1111 / j.1440-1789.2011.01263.x.
9. Amirifar P, Ranjouri MR, Yazdani R, Abolhassani H, Aghamohammadi A. Ataxia-telangiectasia: A review of clinical features and molecular pathology. Pediatr Allergy Immunol. 2019 May; 30 (3): 277-288. DOI: 10.1111 / pai.13020.
10. Yurov Yu.B., Vorsanova SG, Tagirova MK, Yurov I. Yu. Geneticheskie parodoksy nejrodegeneracii pri ataksii-teleagniektazii (sindrom Lui-Bar). Fundamental'nye issledovaniya. 2013. 1 (2): 315-326. Available from:
11. Yurov I. Yu., Tagirova MK, Kolotij AD Geneticheskie mekhanizmy nejrodegeneracii: issledovanie genomnoj nestabil'nosti v nervnyh kletkah pri ataksii-teleangiektazii (sindrom Lui-Bar). Uspekhi sovrem. estestvoznaniya. 2012.3: 89–89. Available from:
12. Sahama I, Sinclair K, Pannek K, Lavin M, Rose S. Radiological imaging in ataxia-telangiectasia: a review. Cerebellum. 2014b; 13: 521-30. DOI: 10.1007 / s12311-014-0557-4.
13. Sahama I, Sinclair K, Fiori S, Pannek K, Lavin M, Rose S. Altered corticomotor-cerebellar integrity in young ataxia-telangiectasia patients. Mov Disord. 2014; 29: 1289–98. DOI: 10.1002 / mds.25970.
14. Taylor AM, Lam Z, Last JI, Byrd PJ. Ataxia-telangiectasia: more variation at clinical and cellular levels. Clin Genet. 2015 Mar; 87 (3): 199-208. DOI: 10.1111 / cge.12453.
15. Riboldi GM, Debopam S., Frucht S. Ataxia Telangiectasia. Available from:
How to Cite
Koreniuk, O., Ilchenko, S., & Hernandez, A. P. (2021). The Complexity of Early Diagnosis of Congenital Ataxia: A Case Report. Journal of Rare Diseases and Orphan Drugs, 2, 30 - 33.