[Ataxia telangiectasia: review of 13 new cases].
We report the review of 13 patients who were diagnosed of ataxia telangiectasia before 6 years of age. All of them manifested cerebelous ataxia, oculocutaneus telangiectasias (11), sinopulmonary infections (9), dystonia (9), oculomotor apraxia (9) and Burkitt linfoma (1). We analyse the most common presentation of the disease in early stages and the complementary studies performed. The prompt diagnosis allow us a better control of infections, malignant process and finally the possibility of genetic counseling.
Valbuena
O
O
Servicio de Neuropediatria, Unitat Integrada Hospital Clinic-Sant Joan de Déu, Barcelona.
Póo
P
P
Campistol
J
J
Vernet
A
A
Fernández-Alvarez
E
E
Sierra
I
I
Gean
E
E
D000293:Adolescent; D017668:Age of Onset; D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D001921:Brain / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004576:Electromyography; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007073:Immunoglobulin E / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007075:Immunoglobulin M / Q000097:blood; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D000509:alpha-Fetoproteins / Q000032:analysis
D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D000509:alpha-Fetoproteins; D007073:Immunoglobulin E