possible intellectual impairment
40–50% have a normal IQ (more likely in TSC1 mutations) however, there are often specific learning disorders such as dyscalculia
~half of cases when assessed for neuropsychological skills, are in the bottom 5th percentile in some areas, especially attention, memory, and executive functions of planning, etc
profound intellectual disability is seen in a third of TSC2 mutation patients
almost all have dental enamel pits
90% have hypomelanic macules (“ash leaf spots”)
usually the only visible sign of TSC at birth
may require a Wood's lamp to see them
scalp lesions may be a white patch of hair (poliosis)
patches smaller than 3mm are known as “confetti” skin lesions
75% have facial angiofibroma which usually appears as mainly malar butterfly distribution papular growths which appear during childhood
adults may have ungual fibromas (Koenen's tumors) nail bed growths which may cause nail deformities especially in toes
50% have Shagreen patches - pigmented areas of thick leathery skin that are dimpled like an orange peel usually found on the lower back or nape of the neck, or scattered across the trunk or thighs and more common with age
20-50% of adults have intraoral fibromas are small surface-tumours found in the gums, inside the cheeks or tongue
25% have fibrous cephalic plaques on their forehead
>80% of children under age 2 years have cardiac rhabdomyomas
80% of children under two-years-old with TSC have at least one rhabdomyoma, and about 90% of those will have several
some may cause heart failure in the foetus or first year of life
only around 20% of children over two years old have residual cardiac rhabdomyomas but can cause arrhythmias
vary in size from a few millimetres to several centimetres and are usually in the ventricles
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often multiple
often present at a younger age (mean age 31yrs) than sporadic AMLs (mean age 54yrs)
often are larger (mean size 8cm vs 4.5cm for sporadic) and more likely to result in sudden catastrophic haemorrhage when greater than 4.5cm
more likely to require surgical intervention (50% vs 28% for sporadic cases)
retinal astrocytic hamartomas (or “phakomas”) may calcify and be seen on CT scan
angiofibroma of eyelids
coloboma
may also cause:
subependymal nodules which form in the walls of cerebral ventricles and tend to calcify as the patient ages
lymphangioleiomyomatosis (LAM) of the lung
rarely, pancreatic neuroendocrine tumours
very rarely, cancerous hamartoblastomas
2% of individuals with TSC also develop polycystic kidney disease in childhood as the PKD1 gene which causes polycystic kidney disease is contiguous with TSC2 gene hence a gross mutation of both genes can occur