Subependymal giant cell tumors in patients with TSC appear to be of mixed glioneuronal lineage, and, therefore, the current practice of classifying these tumors as astrocytomas merits revision. The clinical diagnosis of SGCT should be made for subependymal lesions in TSC that are associated with symptoms, papilledema, or radiologic evidence of hydrocephalus or interval growth. A diagnosis of probable SGCT should be made when a lesion has the potential to cause obstruction based on size or location. Annual screening by MRI with or without contrast is indicated until at least 21 years of age even if subependymal nodules are absent on initial imaging. A diagnosis of SGCT or probable SGCT warrants more frequent monitoring or surgical intervention.

In patients with tuberous sclerosis complex who also have a history of infantile spasms (IS), the rate of mental retardation may be lower than previously reported. The risk of mental retardation increases significantly with prolonged duration of IS, prolonged time from treatment initiation until the cessation of IS, and poor control of subsequent seizures after IS.

The objectives of this study were (1) to test the utility of tuber count and tuber location as biomarkers of disease severity in patients with tuberous sclerosis complex and (2) to examine the relationship between gene mutation, tuber count, and tuber location. We found that an increased tuber count per lobe and in total was associated with an increased risk of infantile spasms (P < .01). Increased tuber count in the occipital lobe was associated with an increased risk of pervasive developmental disorder (P = .0074). The mean tuber count per lobe and in total was higher in those with poorly controlled seizures and those with off-track development; however, these differences were not statistically significant (P > .01). The TSC2 gene mutation was associated with a significant increase in the tuber count per lobe and in total (P < .01). In summary, increased tuber count is strongly associated with infantile spasms and a TSC2 gene mutation. Seizure control and developmental delay do not show the strong association with tuber count suggested by the earlier literature.

No abstract

No abstract