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Images in paediatrics
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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Footnotes

  • Contributors MM and PSB were involved in clinical management of the patient and wrote the paper. AB supervised the work and followed the patient. DL was the neuroradiologist who made the diagnosis and DV co-worked on the collection and interpretation of images. All authors contributed to, saw and approved the manuscript.

  • Competing interests None.

  • Patient consent Parental/guardian consent obtained.

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

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