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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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Tuberous sclerosis
Introduction

Tuberous sclerosis is an autosomal dominant disorder associated with a spectrum of lesions involving almost every organ in the body. It is characterized by clinical triad of epilepsy, mental retardation and facial angiofibromas.

Etiology

It is one of neuroectodermal dysplasias with features of both maldevelopement/hamartomatous lesions of skin and nervous system and neoplasia.

  • indicence 1:100 000
  • autosomal dominant inheritance
  • high rate of spontaneous mutations
  • variable expressivity
Clinical signs
  • mental retardation
  • seizures
  • behavioral disorders including autism
  • various skin lesions
  • Tuberous sclerosis may affect many organs, but certain lesions are not apperent until late childhood or adulthood. The most common cause of death is status epilepticus and bronchopneumonia.
Macro
Macroscopic appearance
  • Brain:
    • Cortical tubersare multiple, firm and pale nodules obscuring the junction between the white and grey matter. Microscopically, a tuber consists of irregular neuronal lamination with giant multinucleated cells.
    • Subependymal nodulesare seen along the walls of lateral ventricles, less often along the third and fourth ventricle. They are protuberant and resemble candle gutterings. Nodules in foramen of Monro may cause signs of obstructive hydrocephalus.
    • The subependymal giant cell tumor(or astrocytoma) presumably arise from subependymal nodules. This tumor is unique for its subependymal location, histology (giant cells with abundant pink cytoplasm that are nor clearly neuronal or astrocytic) and clinical association with tuberous sclerosis. It is a grade I. glioma.
    • Neuronal heterotopias
  • Skin:
    • Hypomelanotic maculeis the most common early finding
    • Facial angiofibromaslocated on cheeks, nose and chin
  • Heart:
    • Rhabdomyomasare usually multiple and may be seen in both ventricles and atrias. These benign tumors grow in utero but tend to regress spontaneously after birth. The clinical features include congestive heart failure, cardiac dysrythmias or sudden death.
  • Kidney:
    • Angiomyolipomais a bening renal neoplasm. Patients with tuberous sclerosis present with bilateral and multifocal lesions. Renal failure may complicate massive bilateral disease. Angiomyolipomas are composed of variable combinations of vasculature, smooth muscle and mature adipose tissue. Angiomyolipomas are common in adults with tuberous sclerosis.
    • Renal cysts
  • Lung:
    • Lymphangioleiomyomatosisis a hamartomatous lesions which develops exclusively in females