An eight-year-old girl was brought to the hospital with recurrent episodes of generalized tonic-clonic seizures since six months of age for that antiepileptic medications were started. There is a history of developmental delay.
On examination, the child had facial angiofibromas and one café-au-lait spot.
On MRI, a large T2 hypointense cortical-subcortical tuber is seen in the left cerebral hemisphere with peripheral T2 hyperintense areas involving the left superior frontal gyrus, anterior and middle aspect of the cingulate gyrus, and middle frontal gyrus (Figure 1a-c). There is chunky calcification within the medial aspect of the superior frontal gyrus with volume loss and prominence of adjacent cortical sulci. The calcifications are better appreciated on a CT scan of the brain (Figure 2).
A cortical-subcortical tuber is seen in the left inferior temporal gyrus.
Few calcified sub-ependymal nodules (SEN) are seen lining the body of lateral ventricles.(Figure 2 and 3)
No Subependymal giant cell astrocytoma is seen.
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome. Also known as Bourneville disease, named after Désiré-Magloire Bourneville .
The most common signs and symptoms of tuberous sclerosis are known as the classic Vogt’s triad consisting of facial angiofibroma, seizures, and mental retardation . The most common manifestation is seizures. Other dermatological findings include Ash leaf spots, shagreen patch, and café-au-lait spots . Northrup et al. described major and minor features for the diagnosis of tuberous sclerosis . Apart from clinical manifestations, there are some major features for which imaging is needed.
CNS manifestations of TSC include:
MRI is the most sensitive and specific in demonstrating these lesions however CT may be helpful in identifying calcifications.
Other extracerebral manifestations include renal angiomyolipomas, renal cysts, cardiac rhabdomyomas, and lymphangioleiomyomatosis (LAM).
Outcome: Treatment is symptomatic and directed by individual clinical manifestations. Life-long follow-up is needed with an MRI brain to detect recurrence or growth of SEGAs and to access the stability of cortical tubers.
Take-Home Message / Teaching Points:
Neuroimaging advances have greatly improved the diagnosis of tuberous sclerosis and the treatment of children in which an MRI plays a significant role in identifying epileptogenic tubers and SEGAs for possible surgical resection.
 Bourneville DM. Sclerose tubereuse des circonvolutions cerebrales: idiotie et epilipsie hemiplegique. Arch Neurol 1880; 1:81–91.
 Vogt H. Zur Pathologie und pathologischen Anatomie der veschiedenen Idiotieformer. Mschr Psychiatr Neurol 1908; 24:106–150.
 Jóźwiak S, Schwartz RA, Janniger CK, Michałowicz R, Chmielik J. Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance. Int J Dermatol 1998; 37:911–917.
 Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA, et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Available online. 2021. Accessed 6-28-22.
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