Neuropediatrics 2015; 46 - VS01-01
DOI: 10.1055/s-0035-1550746

Video-Documented Long-Term Follow-Up of a 10 Years' Old Girl with Severe Dyskinesia and Paroxysmal Choreoathetosis: A Variant Ataxia-Telangiectasia (A-T)

O. Maier 1, C. Künzle 1, C. Courage 2, J. Lemke 3, K. Hörtnagel 4, E. Boltshauser 5
  • 1Neuropädiatrie, Ostschweizer Kinderspital St. Gallen, St. Gallen, Switzerland
  • 2Medizinische Genetik, Inselspital Bern, Bern, Switzerland
  • 3Institut für Humangenetik, Universitäts-Klinikum Leipzig, Leipzig, Germany
  • 4CeGat, Tübingen, Germany
  • 5Neuropädiatrie, Universitäts-Kinderspital Zürich, Zürich, Switzerland

Case Study: We present a now 10-year-old girl with severe dyskinesia with paroxysmal choreoathetoid movements, which started at 24 months of age. Pregnancy and birth were uneventful. From the age of 3 months, a mild coordination disorder and muscular hypotonia were noted, the motor milestones were delayed (independent sitting with 12 months, independent walking with 2.5 years). Therapeutic trials with levodopa, carbamazepine, clonazepam, and carnitene did not significantly improve the dyskinesia nor the paroxysmal events. Cranial MRIs at the age of 12 months and 5 years were normal. Extensive metabolic investigations were normal. Alpha-Fetoprotein was normal. There are still no telangiectasias or ocular apraxia. The cognitive profile at the age of 9.5 years was within the lower range of normal limits. Genetic analysis revealed compound heterozygosity for the following two variants of ATM: c.1229T > C and p.V410 A (het.) which were described in a patient with ocular telangiectasia and c.5071A > C and p.S1691R (het.) which were detected in a British family with a history of A-T. Because of insufficient data, the pathogenicity of both variants remains unclear; however, the clinical presentation could argue for pathogenicity of the variants. Sequencing analysis of PRRT2 did not reveal any mutation. We present video sequences recorded over a period of 8 years of a now 10-year-old girl with a variant A-T with two missense mutations in the ATM gene. A variant A-T should be considered in a patient with dyskinesia and paroxysmal choreoathetosis, even with normal cranial imaging and normal AFP.

Keywords: ataxia-telangiectasia, paroxysmal choreoathethosis.