Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia

Journal of Postgraduate Medicine

Volumn 50, Issue 4, 2004, Pages 270-271

  Trimis, Georgios G ^a   Athanassaki, C K ^a   Kanariou, M M ^b   Giannoulia Karantana, A A ^a  

^a UNIVERSITY OF ATHENS   (Greece)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

Ataxia telangiectasia; Immunodeficiency; Normal neurological assessment

Indexed keywords

ATM PROTEIN;

ARTICLE; ATAXIA TELANGIECTASIA; CASE REPORT; CLINICAL EXAMINATION; FEMALE; HUMAN; IMMUNE DEFICIENCY; NEUROLOGIC EXAMINATION; PRESCHOOL CHILD; RADIOALLERGOSORBENT TEST;

ALPHA-FETOPROTEINS; ATAXIA TELANGIECTASIA; BRONCHITIS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IGA DEFICIENCY; LYMPHOPENIA;

EID: 11944260161     PISSN: 00223859     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: Diagnosis and treatment. Semin Pediatr Neurol 2003;10:173-82.
2. Li A, Swift M. Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Am J Med Genet 2000;92:170-7.
3. Fanos JH, Mackintosh MA. Never again joy without sorrow: The effect on parents of a child with ataxia-telangiectasia. Am J Med Genet 1999;87:413-9.
4. Schubert R, Reichenbach J, Zielen S. Deficiencies in CD4+ and CD8+ T cell subsets in ataxia telangiectasia. Clin Exp Immunol 2002;129:125-32.
5. Crawford TO, Mandir AS, Lefton-Greif MA, Goodman SN, Goodman BK, Sengul H, et al. Quantitative neurologic assessment of ataxia-telangiectasia. Neurology 2000;54:1505-9.
6. Kutluk MT, Yalcin B, Buyukpamukcu M. Ataxia telangiectasia and Hodgkin disease. Med Pediatr Oncol 2000;35:509.
7. Neubauer S, Arutyunyan R, Stumm M, Dork T, Bendix R, Bremer M, et al. Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting. Radiat Res 2002;157:312-21.
8. Geoffroy-Perez B, Janin N, Ossian K, Lauge A, Croquette MF, Griscelli C, et al. Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer 2001;93: 288-93.
9. Lefton-Greif MA, Crawford TO, Winkelstein JA, Loughlin GM, Koerner CB, Zahurak M et al. Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia. J Pediatr 2000;136:225-31.
10. Irsfeld H, Korholz D, Janssen G, Wahn V, Schroten H. Fatal outcome in two girls with Hodgkin disease complicating ataxia-telangiectasia (Louis-Bar syndrome) despite favorable response to modified-dose chemotherapy. Med Pediatr Oncol 2000;34:62-4.