Open-access CNS and cutaneous involvement in tuberous sclerosis complex

Comprometimento cutâneo e do SNC no complexo esclerose tuberosa

A 13-year-old boy with tuberous sclerosis complex (TSC) presented with a painless, gradually progressive area of thickened skin in the occipito-cervical region corresponding to a giant shagreen patch (Figure A). Physical examination demonstrates facial angiofibromas (Figure B) and periungual fibromas. He also presented mental retardation and tonic-clonic seizures. MRI revealed a subependymal nodule in the lateral ventricle, cortical tubers and the shagreen patch (Figures C and D).

Figure
(A) A large shagreen patch located in the occipito-cervical region. (B) Multiple facial angiofibromas over the centrofacial areas. (C) Sagital T1-weighted and (D) Flair MRI shows subependymal nodules in the lateral ventricle close to the Monro foramina, suggesting giant cell subependymal astrocytoma at the right (arrows) and cortical tubers (arrowheads). Note also in C the shagreen patch (arrowheads).

The diagnosis of TSC is based on clinical criteria1,2. In our patient brain MRI was able to demonstrate at least three TSC major features, which met the criteria for a definitive diagnosis.

References

  • 1 Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345-56. doi:10.1056/NEJMra055323
  • 2 Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;372(9639):657-68. doi:10.1016/S0140-6736(08)61279-9

Publication Dates

  • Publication in this collection
    Sept 2015

History

  • Received
    05 Mar 2015
  • Reviewed
    09 Apr 2015
  • Accepted
    29 Apr 2015
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