Cerebral White-Matter Changes Suggesting Leukodystrophy in Ataxia Telangiectasia

Abstract

Ataxia telangiectasia is an autosomal recessive disorder characterized by progressive cerebellar ataxia, recurrent sinopulmonary infections, oculocutaneous telangiectasia, selective immunoglobulin deficiency, and defective cellular immunity. We report a 4-year-old girl with ataxia telangiectasia whose initial magnetic resonance imaging (MRI) scan at 17 months of age showed leukoencephalopathy compatible with a leukodystrophy, a neuroimaging feature of ataxia telangiectasia that has not been described. Ataxia telangiectasia was not suspected until the child developed more typical clinical features. Diffuse white-matter high signal intensity on T2-weighted MRI scans may occur in the early stages of ataxia telangiectasia. This disease should be considered in the differential diagnosis of any child with a history and MRI findings suggestive of one of the leukodystrophies. The nonneurologic manifestations of ataxia telangiectasia may be of help diagnostically in this clinical setting.

Extracerebellar MRI—Lesions in Ataxia Telangiectasia Go Along with Deficiency of the GH/IGF-1 Axis, Markedly Reduced Body Weight, High Ataxia Scores and Advanced Age

“…An MRI scan of the same patient at the age of 38 months showed progress of the lesions in the left frontal white mater and left centrum semiovale. The authors discussed their findings to stand for demyelinization areas around central nervous telangiectasias with hemosiderin leakage [30][31][32][33][34]. Another MRI imaging study of 19 patients aged between 2 and 38 years reported the involvement of the lateral cerebellar hemispheres as the most frequent finding with subsequent progression to the superior and inferior portions until diffuse.…”

Investigating neural connectivity of corticomotor networks in ataxia telangiectasia: improving our understanding of the clinical phenotype

“…The early images showed leukoencephalopathy compatible with leukodystrophy, a neuroimaging finding that has not been described in A-T. 157 This eludes to the possibility of diffuse WM signal intensity on T2-weighted MRI, 159 which indicates progressive demyelination may occur in the early stages of A-T. The specificity of this finding has yet to be established.…”

“…While cerebellar degeneration is a wellestablished finding in A-T, structural changes in the cerebral motor cortex and spinal cord, particularly in histopathological studies, have been confined mainly to older A-T patients (reviewed in Sahama 15 ) and sparingly in young patients. 88,157 Cerebral abnormalities in structural MRI studies have also been observed largely in adult A-T patients, 145,158,193 however exceptional cases in early A-T have been noted. 157 Our current findings of cerebellar, somatosensory and spinal cord neurodegeneration, and our previous observations of reduced grey matter density in A-T motor regions, 183 provide evidence that the thalamus, precentral gyrus and postcentral gyrus are likely affected in our young A-T patient cohort.…”

“…88,157 Cerebral abnormalities in structural MRI studies have also been observed largely in adult A-T patients, 145,158,193 however exceptional cases in early A-T have been noted. 157 Our current findings of cerebellar, somatosensory and spinal cord neurodegeneration, and our previous observations of reduced grey matter density in A-T motor regions, 183 provide evidence that the thalamus, precentral gyrus and postcentral gyrus are likely affected in our young A-T patient cohort. To our knowledge, involvement of these cortical areas has not previously been reported in imaging studies in A-T, however reduced metabolism in the fusiform gyrus of the cerebral cortex has been observed using 18 F-FDG PET imaging.…”

“…Very few studies have focused on reporting radiological findings in A-T. 133,[143][144][145][146][147][148][150][151][152][153][154][155][156][157] Of these, studies using standard T1-and T2-weighted MRI sequences have consistently shown diffuse cerebellar atrophy, predominantly within the vermis and cerebellar hemispheres. This reflects the loss of Purkinje cells on a histological level, which is a well-established neuropathological hallmark of A-T. Foci of T2-weighted WM hypo-and hyper-intensity have also been observed and attributed to capillary telangiectasia and focal extracerebellar demyelination.…”