A 14-year-old boy presented with recurrent episodes of generalized tonic-clonic seizures. He had onset of seizures at the age of 6 months for which he received phenytoin for 3 years and remained seizure free in the intervening period. Cutaneous examination revealed facial angiofibroma, hypopigmented macules (Figure 1A) and ungual fibroma. His intelligence quotient was 80–90. Magnetic resonance imaging revealed multiple cortical/subcortical tubers in the brain parenchyma (Figure 1B, black arrows). Ultrasonography revealed the presence of bilateral renal echogenic masses suggestive of angiomyolipoma. A diagnosis of tuberous sclerosis was established as the patient had four major diagnostic criteria.1 The patient was started on levetiracetam and topiramate but had persistence of seizure and has been advised surgical removal of the epileptogenic tuber. Figure 1 View largeDownload slide (A) Facial angiofibroma and hypopigmented macule. (B) Cortical/subcortical tubers in the brain parenchyma. Figure 1 View largeDownload slide (A) Facial angiofibroma and hypopigmented macule. (B) Cortical/subcortical tubers in the brain parenchyma. Tuberous sclerosis complex is an autosomal dominant, neurocutaneous syndrome described by Bourneville2 in 1880. Mutations in TSC1 (encoding hamartin) and TSC2 (encoding tuberin) gene result in this multisystem disorder. The clinical spectrum of tuberous sclerosis complex varies from minimal symptoms to severe neurological disability due to variable penetrance of the clinical features. Seizures and cutaneous manifestations are the usual presentating complaints. Dermatological manifestations have a distinct age of onset and are present in 90% of patients.3 These include hypopigmented macules (formerly called ash-leaf spots), shagreen patch, ungual fibromas and facial angiofibromas (earlier known as adenoma sebaceum). Hypopigmented macules are usually identified in infancy or early childhood, whereas shagreen patch is identified generally after the age of 5 years. Ungual fibromas typically appear after puberty, and facial angiofibromas are more common in late childhood or adolescence. Neurological manifestations include epilepsy, cognitive dysfunction and behavioural abnormalities. These occur as a consequence of cortical tubers, which develop during foetal life and are characterized histologically by the presence of dysmorphic neurons, large astrocytes and a unique type of cell known as a giant cell. Epilepsy is present in 70–80% of patients, and all types of seizure (generalized tonic-clonic, simple partial and complex partial) have been reported.4 Seizures are often refractory to antiepileptic drugs and may require resection of an epileptogenic tuber.5 Conflict of interest: None declared. References 1 Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624– 8. http://dx.doi.org/10.1177/088307389801301206 Google Scholar CrossRef Search ADS PubMed 2 Bourneville DM. Sclerose tubereuse des circonvolutions cerebrales: idiotie et epilepsie hemiplegique. Arch Neurol (Paris) 1880; 1: 81– 91. 3 Crino P, Nathanson K, Petri E. The tuberous sclerosis complex. N Eng J Med 2006; 355: 1345– 56. http://dx.doi.org/10.1056/NEJMra055323 Google Scholar CrossRef Search ADS 4 Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol 2004; 19: 680– 6. http://dx.doi.org/10.1177/08830738040190090801 Google Scholar CrossRef Search ADS PubMed 5 Koh S, Jayakar P, Dunoyer C, Whiting SE, Resnick TJ, Alvarez LA, et al. Epilepsy surgery in children with tuberous sclerosis complex: presurgical evaluation and outcome. Epilepsia 2000; 41: 1206– 13. Google Scholar CrossRef Search ADS PubMed © The Author 2017. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: firstname.lastname@example.org
QJM: An International Journal of Medicine – Oxford University Press
Published: Mar 1, 2018
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.
All for just $49/month
Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly
Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.
Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.
Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.
All the latest content is available, no embargo periods.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera