進行性小脳失調症を伴うアタキシア・テランギエクタジアにおける広範な末梢性毛細血管拡張症

We present a school-aged girl with ataxia-telangiectasia (AT), a rare autosomal recessive neurodegenerative disorder. She presented with progressive cerebellar ataxia beginning at 12 months, ocular telangiectasias developing at 4 years and unusually extensive cutaneous telangiectasias on the dorsum of hands, feet and limbs emerging at 5 years. Laboratory investigations revealed elevated alpha-fetoprotein levels, decreased immunoglobulin A and G and cerebellar atrophy on MRI. The patient experienced recurrent sinopulmonary infections requiring monthly intravenous immunoglobulin therapy. This patient demonstrates the classical neurological manifestations of AT alongside an atypical distribution of prominent cutaneous telangiectasias, emphasising the importance of early recognition for appropriate management and genetic counselling.