Neuropediatrics 2016; 47 - P05-10
DOI: 10.1055/s-0036-1583675

Gait Disturbances and Unspecific White Matter Hyperintensity in T2-Weighted Imaging as the First Manifestation of an Ataxia Telangiectasia

H. Kölbel 1, O. Kaiser 1, B. Andres 1, A. F. M. Taylor 2, M. Kieslich 3, F. Hoche 3, 4, U. Schara 1
  • 1Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany
  • 2School of Cancer Sciences, University of Birmingham, United Kingdom
  • 3Department of Neuropediatrics, Children's Hospital, Goethe-University, Frankfurt am Main, Germany
  • 4Cognitive Behavioral Neurology Unit, Ataxia Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, United States

Background: Ataxia telangiectasia (AT) is an autosomal recessive genomic instability syndrome characterized by cerebellar ataxia, immunodeficiency and cancer predisposition. Additional clinical features of AT include oculocutaneous telangiectasias, frequent bronchopulmonary infections, growth retardation, fatigue in adolescence and premature aging. Magnetic resonance imaging (MRI) studies are usually without pathology in early infancy; in childhood, cerebellar atrophy and in the second decade of life hyperintensive lesions in the white matter occur. Neurodegeneration in AT is closely associated with the absence or partial lack of the ataxia telangiectasia-mutated (ATM) kinase. ATM is a central player in maintaining cellular homeostasis.

Case Report: Unstable stand when the first symptom was recognized at 11 months of age. Crawling at 6 months, sitting without support at 8 months. Presented first in our hospital at 18 months of age, walking without support was not possible. MRI study showed white matter hyperintensity periventricular and parietal in T2-weighted imaging. Alpha-fetoprotein was 26.3 IU/L (<10), IgG and IgA were decreased. Two newly described heterozygote mutations were found in the ATM-gene. To ensure the diagnosis, ATM kinase activity and ATM protein levels were measured showing the absence of detectable ATM protein and absence of ATM kinase activity. Therapy with L-Dopa was initiated six months ago with a maximum of 5 mg/kg per day; gait and up-right standing clearly improved under medication.

Conclusion: White matter lesions in AT patients can occur early in childhood. In atypical cases the diagnosis should be confirmed by measurements of ATM kinase activity and ATM protein levels.