Background: Ataxia can be a symptom of a wide range of neurological illnesses. Neurochemical alterations can be detected non-invasively using magnetic resonance spectroscopy (MRS).
Objective: This study aimedto reach to an early diagnosis of the neurometabolic changes of Ataxia Telangiectasia via describing the causes & clinical features of this disease and determining the functional changes in brain tissue in patients with it.
Patients and Methods: All children with Ataxia Telangiectasia (eighteen) attending to Pediatric Department, Zagazig University Hospitals. The patients were subjected to complete history taking, full clinical examination, application of Scale for the assessment and rating of ataxia (SARA) and MRS imaging.
Results: Study participants were found to have a statistically significant correlation between their overall SARA score and their gender. Total score was significantly higher in female patients. In addition, correlations between total SARA score and skin nodules, hepatosplenomegaly were statistically significant. Patients with skin nodules and hepatosplenomegaly (HSM) have significantly lower total score. MRI results and HSM results had a statistically significant relationship.
Conclusion: MRS and SARA are useful tools in studying the causes, clinical picture, diagnosis & treatment of Ataxia Telangiectasia.