A case of ataxia-telangiectasia with cerebellar ataxia and involuntary movements from early childhood, for which serological examination was useful for early diagnosis

Abstract

  We herein present the ataxia telangiectasia (AT) of a 2-year-old boy who presented with celebellar ataxia and involuntary movements in early infancy was diagnosed early by blood tests. The patient had no developmental delay until the start of walking. He was admitted to our department because of persistent unsteadiness in walking. His gait was unsteady, and he proceeded in rushing to keep his balance. He was prone to falling over. In addition, athetosis-like undulating movements of the fingers were observed when grasping objects. Blood tests showed high alpha-fetoprotein, low IgG, low IgG2, and genetic tests revealed abnormal frameshifting〔NM_000051.3 (ATM) : c.1402_1403del [p.Lys468Glufs＊18] ; rs58771347〕and splicing variants〔NM_000051.3 (ATM) : c.8585-1G>A ; rs876660066〕of the ATM gene, which confirmed the diagnosis of AT. Early diagnosis of AT is challenging because the neurological symptoms are diverse and the characteristic telangiectatic symptoms appear in late infancy. And also, appropriate follow up for not only neurological manifestations but also for complications such as susceptibility to infection and malignancy is important at the point of life prognosis. Serological testing of children who present with involuntary movements in addition to cerebellar ataxia symptoms can lead to early diagnosis.