A clinical case of Louis-Bar syndrome with a clinical picture of cerebellar ataxia and EBV-associated lymphoproliferative syndrome


  • D.V. Maltsev Institute of Experimental and Clinical Medicine of Bogomolets National Medical University, Kyiv, Ukraine




primary immunodeficiency, herpesvirus infection, immunotherapy, neurorehabilitation


This description of the clinical case presents the medical history of the child aged 2 years and 6 months with a picture of Louis-Bar syndrome. Manifestations of progressive cerebellar ataxia, bruxism, oculomotor apraxia, and benign lymphoproliferative syndrome caused by Epstein-Barr virus have been reported. No signs of telangiectasia were noted, which may be explained by the age of the child. The immunological study identified signs of combined immunodeficiency with lymphopenia, a decrease in the number of T-helpers and cytotoxic T-lymphocytes in the blood, as well as low serum IgA concentration. The content of alpha-fetoprotein in the serum exceeded the normal upper limit by 15 times. Genetic test revealed three mutations in the ATM gene, in particular two known pathogenic nucleotide substitutions in the heterozygous state — c.8147T>C (p.Val2716Ala) and c.8584+2T>C (Splice donor), and one previously unknown mutation — c.3178A>G (p.fle1060Val) of uncertain diagnostic value in the heterozygous state. Valganciclovir was prescribed to inhibit reproductive activity of Epstein-Barr virus, leukocyte dialysate and propes — to compensate the immunodeficiency, and combination therapy with cerebrocurin and citicoline — for neurological deficits with a partial positive effect. This clinical example demonstrates the potential of a neuroimmunological approach to patient management, as the examined child suffered from both immunodeficiency and neurological dysfunction due to the pleiotropic effects of the mutated gene that caused the disease.


Евтушенко С.К. и др. Неврология раннего детского возраста. Киев, 2016. 287 с.

Мальцев Д.В., Казмирчук В.Е. Иммунодефицитные болезни человека. Киев: Феникс, 2012. 596 с.

Мальцев Д.В. Показания к применению трансфер факторов в клинической практике. Імунологія і алергологія: наука і практика. 2019. № 2. С. 4-20.

Мухин А.С. Неврология детского возраста. Москва: Медицина, 2004. 764 с.

Abdulhag U.N., Liebster D., Eisenstein E.M., Berkun Y. Efficacy of Rituximab in Refractory Cold Agglutinin Hemolytic Anemia in a Patient with Ataxia-Telangiectasia. Isr. Med. Assoc. J. 2015. Vol. 17(7). P. 455-456.

Alyasin S., Esmaeilzadeh H., Ebrahimi N. et al. Clinical Presentation of Ataxia-Telangiectasia. Arch. Iran. Med. 2019. Vol. 22(12). P. 682-686.

Asadollahi R., Britschgi C., Joset P. et al. Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene). Mol. Genet. Genomic. Med. 2020. e1409.

Bennett J.A., Bayerl M.G. Epstein-Barr virus-associated extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT Lymphoma) arising in the parotid gland of a child with ataxia telangiectasia. J. Pediatr. Hematol. Oncol. 2015. Vol. 37(2). e114-117.

Cipe F., Dogu F., Yildiran A., Yüksek M. An unusual clinical presentation: invasive Candida non-albicans infections in ataxia telangiectasia. J. Investig. Allergol. Clin. Immunol. 2008. Vol. 18(6). P. 488-490.

Dineen R.A., Raschke F., McGlashan H.L., Pszczolkowski S. et al. Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia. Neuroimage Clin. 2020. Vol. 25. P. 102-110.

Khan A., Hill J.M., Loeb E., MacLellan A., Hill N.O. Mana-gement of Chédiak-Higashi syndrome with transfer factor. Am. J. Dis. Child. 1973. Vol. 126(6). P. 797-799.

Levin A.S., Spitler L.E., Stites D.P., Fudenberg H.H. Wiskott-Aldrich syndrome, a genetically determined cellular immunologic deficiency: clinical and laboratory responses to therapy with transfer factor. Proc. Natl. Acad. Sci. U S A. 1970. Vol. 67(2). P. 821-828.

Li X.L., Wang Y.L. Ataxia-telangiectasia complicated with Hodgkin’s lymphoma: A case report. World. J. Clin. Cases. 2020. Vol. 8(11). P. 2387-2391.

Pasini A.M., Gagro A., Roić G. et al. Ataxia Telangiectasia and Juvenile Idiopathic Arthritis. Pediatrics. 2017. Vol. 139(2). e20161279.

Patiroglu T., Gungor H.E., Unal E. et al. Hashimoto thyroiditis associated with ataxia telangiectasia. J. Pediatr. Endocrinol. Metab. 2012. Vol. 25(3–4). P. 349-352.

Perez Maturo J., Gonzalez Cid M., Zavala L. et al. Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again. Mov. Disord. Clin. Pract. 2020. Vol. 7(6). P. Р. 727-729.

Pitter K.L., Casey D.L., Lu Y.C. et al. Pathogenic ATM Mutations in Cancer and a Genetic Basis for Radiotherapeutic Efficacy. J. Natl. Cancer Inst. 2020. djaa095.

Rubinstein J.D., Burns K., Absalon M. et al. EBV-directed viral-specific T-lymphocyte therapy for the treatment of EBV-driven lymphoma in two patients with primary immunodeficiency and DNA repair defects. Pediatr. Blood Cancer. 2020. Vol. 67(3). e28126.

Tatfi M., Hermine O., Suarez F. Epstein-Barr Virus (EBV)-Related Lymphoproliferative Disorders in Ataxia Telangiectasia: Does ATM Regulate EBV Life Cycle? Front. Immunol. 2019. Vol. 9. P. 3060.





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