Author information
- 1
- Department of Clinical and Molecular Medicine, "Sapienza" University of Roma, Italy. Electronic address: maria.piane@uniroma1.it.
- 2
- Unit of Child Neurology and Psychiatry, Spedali Civili and University of Brescia, Brescia, Italy.
- 3
- Department of Pediatrics, Spedali Civili and University of Brescia, Brescia, Italy.
- 4
- Department of Clinical and Molecular Medicine, "Sapienza" University of Roma, Italy.
- 5
- Department of Neuroradiology, Spedali Civili, Brescia, Italy.
- 6
- Department of Ecological and Biological Sciences, University of Tuscia, Viterbo, Italy.
Abstract
We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed.
KEYWORDS:
ATM gene; Ataxia-Telangiectasia; Ischemic stroke; Low-grade cerebellar astrocytoma
- PMID:
- 27871447
- DOI:
- 10.1016/j.jns.2016.10.014
- [Indexed for MEDLINE]