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Multiple café-au-lait macules and movement disorder: think beyond neurofibromatosis
  1. Priyanka Madaan1,
  2. Swetlana Mukherjee2,
  3. Chaitanya Reddy1,
  4. Jaivinder Yadav2,
  5. Lokesh Saini1
  1. 1 Pediatric Neurology Unit, Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India
  2. 2 Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India
  1. Correspondence to Dr Lokesh Saini, Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India; drlokeshsaini{at}gmail.com

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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 …

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