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Familial spinal neurofibromatosis: three generations of identical level symptomatic tumours
  1. Masahiro Tsuji1,
  2. Sayaka Harada1,
  3. Yasushi Ueno2,
  4. Naohiro Osaka2
  1. 1Department of Pediatrics, Kobe City Medical Center General Hospital, Kobe, Japan
  2. 2Department of Neurosurgery, Kobe City Medical Center General Hospital, Kobe, Japan
  1. Correspondence to Dr Masahiro Tsuji, Department of Regenerative Medicine and Tissue Engineering, National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka, 565–8565, Japan, mtsujimd{at}

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A 62-year-old man with neurofibromatosis type 1 presented with slowly progressive weakness in the right leg and impaired bladder function. Physical examination revealed bilateral brisk deep tendon reflexes and extensor plantar reflex. He had dozens of café au lait spots and cutaneous neurofibromas. His 12-year-old granddaughter presented with toe walking and weakness in the right hand. She showed several (>6) café au lait …

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  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.