A child with mental retardation and skin rash on cheeks underwent a CT scan. The diagnosis of the child is?
In the image on the left adenoma sebaceum is present, which looks like extensive acne in a butterfly distribution. The CT scan head shows a big lesion obliterating the ventricular system. It is a sub-ependymal nodule seen in tuberous sclerosis. A point against Sturge Weber is the absence of cutaneous lesion of Po wine stain. VHL is associated with cerebellar hemangioblastoma.
Tuberous sclerosis
Von Hippel Lindau
Sturge Weber syndrome
Ataxia telangiectasia
Epilepsy and EEG