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TS or not TS?
  1. Cyriac Athappily1,
  2. Rickie Patani1,2,3,
  3. Sanjiv Chawda1,
  4. Elisabeth Rosser4,
  5. Rajith de Silva1
  1. 1Department of Neurology, Essex Centre for Neurological Sciences, Queen's Hospital, Romford, Essex, UK
  2. 2Anne Mclaren Laboratory for Regenerative Medicine, University of Cambridge, Cambridge, UK
  3. 3Department of Clinical Neurosciences, Cambridge Centre for Brain Repair, University of Cambridge, Cambridge, UK
  4. 4Clinical Genetics Unit, Great Ormond Street Hospital for Children NHS Trust, London, UK
  1. Correspondence to Dr Rajith de Silva, Department of Neurology, Essex Centre for Neurological Sciences, Queen's Hospital, Rom Valley Way, Romford,Essex RM7 0AG, UK;desilva63{at}

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A 47-year-old woman had first presented in her late twenties with complex partial seizures and became seizure-free on carbamazepine. She re-presented 13 years later with migrainous headaches. MR scan of the  brain showed several unusual, non-specific high signal intensity, lesions in the deep and subcortical white matter of both cerebral hemispheres (figure 1). The lesions were typical of subcortical tubers and, as such, a diagnosis of tuberous sclerosis (TS) was queried, although she had no other (peripheral) stigmata of TS.1

Figure 1

MRI T2 fluid attenuated inversion recovery (FLAIR) axial images showing cortical/subcortical tubers in the right occipital (A) and left frontal (B) lobes.

TS is an autosomal dominant, multisystem disorder, presenting with multiple harmatomous growths.1 It is usually caused by a mutation in either TSC1 or TSC2, coding for the proteins, hamartin and tuberin respectively.2 Although up to 90% of patients with TS experience seizures, epilepsy is not considered a diagnostic feature. There is no single pathognomonic clinical sign for this condition.3 Given the wide phenotypic variability in TS, Roach et al4 developed a set of diagnostic criteria in 1998 (see box 1 adapted from Hake1). They suggest several major and minor clinical features, but the cardinal signs for suspecting TS are the skin manifestations—in particular, periungual fibromas, adenoma sebaceum, Shagreen patches and ash-leaf macules (which may only be visualised after examination under Wood's light). Despite careful examination of the skin in our patient, there were no peripheral stigmata of TS. There were no dental enamel pits or gingival fibromas. We did not request additional investigations for the presence of rectal polyps and bone cysts. On further questioning the patient disclosed that she was adopted at birth (with no subsequent contact with …

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  • CA and RP contributed equally to this paper and are joint first authors.

  • Contributors CA and RP wrote the manuscript. SC performed and interpreted the neuroimaging. ER coordinated the genetic studies, and interpreted the findings. RdS is the patient's consultant neurologist and was involved in all aspects of this case.

  • Funding None.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed. This paper was reviewed by Finbar O'Callaghan, Bristol, UK.

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