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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 …
Contributors PM prepared the initial draft of manuscript and reviewed the literature. SM and CR reviewed the literature and were involved in patient care. LS and JY did the critical review of the manuscript and reviewed the literature and edited the final version of manuscript.
Funding The authors did not receive any grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Patient consent for publication Obtained.
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