Abstract
Introduction: Ataxia telangiectasia (AT) is a rare disease characterized by immunodeficiency and neurological manifestations. Ataxia, resulting from cerebella atrophy, runs a progressive incapacitating course. Clinical monitoring of the disease course is mandatory for early treatment. Aim: To study clinical severity of AT and correlate it with the degree of cerebellar atrophy. Patients and Methods: We retrospectively studied all children (less than 14 years) with AT seen at Hamad General Hospital Clinics between 1998-2013. We collected basic demographic data, parental consan-guinity, family history, AT clinical severity scores, and reviewed CBC with differential counts; alpha-fetoprotein, serum immunoglobulins and lymphocyte subsets. Cranial MRI scans of each subject were reviewed by a neuroradiologist. Cerebellar atrophy was visually and semi-quantitatively scored. Results: We analyzed data on 18 AT children (10 males and 8 females), mean age of 76.9 months. 77.8% had a positive family history of AT and 41.7% parental consanguinity. Lymphopenia was observed in 77.8% and high serum alpha-fetoprotein in 87.5% of children. Clinical severity of ataxia was 17.1 ± 8.4 (mean ± SD); 86.7% of patients were moderate-severe. MRI cerebellar atrophy score was 1.9 ± 1.3 (mean ± SD), and moderate in 51% of patients. AT clinical severity score correlated (coefficient r = 0.566) but not statistically significant p = 0.088) with MRI cerebellar atrophy scores. Conclusions: Moderate to severe ataxia and marked cerebellar atrophy are quite common in AT children. There is a correlation between AT clinical severity and cerebellar atrophy. Larger prospective studies might further determine the significance of our observations and help practicing practitioners monitor the progression of the disease.
Highlights
Ataxia telangiectasia (AT) is a rare disease characterized by immunodeficiency and neurological manifestations
In this retrospective cross-sectional study, we reviewed the medical records of all children, younger than 14 years, who were diagnosed to have ataxia telangiectasia at Ped Allergy-Immunology and Ped Neurology Clinics at Hamad General Hospital between 1998 and 2013
Elevated serum alpha-fetoprotein was demonstrated in 14 patients (16 of patients tested, 87.5%), and lymphopenia was observed in 14 (77.8%) patients
Summary
Ataxia telangiectasia (AT) is a rare disease characterized by immunodeficiency and neurological manifestations. Aim: To study clinical severity of AT and correlate it with the degree of cerebellar atrophy. MRI cerebellar atrophy score was 1.9 ± 1.3 (mean ± SD), and moderate in 51% of patients. Conclusions: Moderate to severe ataxia and marked cerebellar atrophy are quite common in AT children. Ataxia telangiectasia (AT) is one of the rare, genetic, primary immunodeficiency diseases [1] It is mainly characterized by immunodeficiency and neurological manifestations, with increased risk of infections, autoimmunity and malignancy [2]. It is caused by mutations involving ATM (ataxia telangiectasia, mutated) gene [3]. The degree of ATM kinase activity determined the clinical severity of the disease [7]
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