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An unusual presentation of tuberous sclerosis
  1. Marina Macchiaiolo1,
  2. Paola Sabrina Buonuomo1,
  3. Daniela Longo2,
  4. Diletta Valentini3,
  5. Andrea Bartuli1
  1. 1Rare Disease and Medical Genetic Unit, Bambino Gesù Children's Hospital, Rome, Italy
  2. 2Radiology Unit, Bambino Gesù Children's Hospital, Rome, Italy
  3. 3General Pediatrics Unit, Bambino Gesù Children's Hospital, Rome, Italy
  1. Correspondence to Dr Paola Sabrina Buonuomo, Rare Disease and Medical Genetic Unit, Bambino Gesù Children's Hospital, Piazza S. Onofrio, 4, Rome 00135, Italy; psabrina.buonuomo{at}opbg.net

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A 8-year-old boy presented to the emergency department for symptomatic tachycardia (heart rate 180 bpm). According to his parents, his past history was unremarkable and he had normal neurological development.

On examination he was noted to have facial angiofibromas (figure 1A), hypomelanotic macules and a periungual fibroma (Koenen's tumour) on his toe (figure …

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