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Arch Dis Child 98:214-215 doi:10.1136/archdischild-2012-302885
  • Miscellanea
  • Images in paediatrics

An unusual presentation of tuberous sclerosis

  1. 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
  • Received 29 August 2012
  • Revised 15 December 2012
  • Accepted 28 December 2012
  • Published Online First 12 January 2013

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 …