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).
(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 criteria11 . Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345-56. doi:10.1056/NEJMra055323,22 . Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;372(9639):657-68. doi:10.1016/S0140-6736(08)61279-9. In our patient brain MRI was able to demonstrate at least three TSC major features, which met the criteria for a definitive diagnosis.
References
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1Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345-56. doi:10.1056/NEJMra055323
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2Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;372(9639):657-68. doi:10.1016/S0140-6736(08)61279-9
Publication Dates
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Publication in this collection
Sept 2015
History
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Received
05 Mar 2015 -
Reviewed
09 Apr 2015 -
Accepted
29 Apr 2015
