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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 1B). It was therefore suspected that the patient had tuberous sclerosis (TS). Abdominal ultrasound showed multiple bilateral renal angiomyolipomas, cerebral MRI (figure 2) showed cortical and subcortical tubers and a subependymal nodule, and cardiac ultrasound showed a small cardiac rhabdomyoma.

Figure 1

(A) Facial angiofibromas; (B) Koenen's periungual fibroma.

Figure 2

(A–C) Axial T2-weighted FLAIR images: right frontal and left parietal cortical subcortical tubers (arrowheads); (D) T2-weighted GRE image: right small subependymal calcified nodule (arrowhead).

TS is a rare multi-system genetic disorder with autosomal dominant inheritance that causes non-malignant tumours to grow in the brain, kidneys, heart, eyes, lungs and skin.1 ,2 The disease is caused by a mutation of either of two genes, TSC1 or TSC2, that code for the proteins hamartin and tuberin, respectively, which act as tumour growth suppressors.3 ,4

Two thirds of TS cases result from sporadic genetic mutations.

References

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.