Ataxia telangiectasia: presentation and diagnostic delay

Abstract

There are significant delays in presentation and diagnostic confirmation of A-T. A greater awareness of A-T and early measurement of AFP may help to improve this.

Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia

“…Our observation that 95% confidence intervals separate towards the end of the first decade (Fig. 2C) is consistent with clinical experience that cerebellar atrophy can be difficult to detect by visual inspection of diagnostic MRI scans in the first few years of life for children subsequently confirmed to have A-T, and this may contribute to reported delays in diagnosis of A-T (Devaney et al., 2017). The relationship between cerebellar volume and age was similar for A-T participants with absent ATM kinase production and those producing non-functioning ATM kinase.…”

“…In classical A-T onset of clinical features occurs at median age 18 months (Devaney et al., 2017) but brain MRI scans early in the disease are often subjectively normal. In older children structural imaging studies (reviewed by Sahama et al.…”

Treatable Movement Disorders of Infancy and Early Childhood

“…Ataxiatelangiectasia [102][103][104][105]109 x X x Oculomotor apraxia, immunodeficiency, malignancy (typically hematologic), pulmonary failure…”

“…102 Most but not all children have an elevated serum α-fetoprotein on presentation; so, genetic testing should be pursued with high suspicion despite negative serum testing. 103,104 Prophylactic antibiotics and intravenous immunoglobulin may be instituted for those with frequent infections. Symptomatic treatments for ataxia include amantadine, 105 4-aminopyridine, 106 and short courses of steroids, 107,108 though symptoms recur following steroid cessation.…”

Advances in pediatrics in 2017: current practices and challenges in allergy, endocrinology, gastroenterology, genetics, immunology, infectious diseases, neonatology, nephrology, neurology, pulmonology from the perspective of Italian Journal of Pediatrics

“…The most well-known of the inherited ataxias includes ataxia-telangiectasia (AT), a rare, neurodegenerative, multiorgan, autosomal recessive disorder causing severe disability. Because of his rarity, the diagnosis of AT is often delayed but it can be made earlier with serum alpha feto-protein (AFP) measurement, a readily available and inexpensive test for all toddlers and children with undiagnosed chronic or progressive ataxia [ 133 ]. Children with AT suffer from increased mortality because of lymphoreticular malignancy, infections of the respiratory system, and various complications.…”