Multiple café-au-lait macules and movement disorder: think beyond neurofibromatosis

摘要

A boy aged 3 years presented with mild motor delay. He could walk independently but could not run. On examination, he was hypotonic and had multiple café-au-lait spots (CALS; >6) on the back (figure 1). There was no family history and/or other features of neurofibromatosis-1 (NF-1). Neuroimaging was non-contributory. He was initiated on rehabilitative measures. Six months later, he developed choreoathetosis and neck dystonia. Repeat neuroimaging was normal. Peripheral smear did not show acanthocytes. α-Fetoprotein was elevated suggesting a possibility of ataxia telangiectasia (AT), which was later confirmed genetically (a pathogenic homozygous null variant c.6547G>T (p.E2183*) in ATM gene) and clinically as he developed ataxia, ocular telangiectasia and oculomotor apraxia over next 2?years.