Tuberous Sclerosis

Synonyms:

a.k.a. Bournvile disease

Genetics:

Genetic tests: chr. 9q34 TSC1 encoding hamartin , chr. 16p13 TSC2 encoding tuberin

Diagnosis:

Clinical features plus findings on investigations

Clinical  features:

Seizures
Retinal hamartomas
Skin:

  • Hypopigmented macules a.k.a. ‘Ash leaf shaped’, easier to see with Wood lamp (UV light)= poliosis (white hair) on the scalp
  • Ungal fibromas, shagreen patches
  • Facial angiofibroma (formerly Adenoma sebaceum= facial skin hamartomas)
  • Café au lait spots may occur

Findings on Investigations:

CT without and with contrast:

  • Subependymal nodular calcifications
  • Widened gyri, tubers may occur
  • Tumor near the interventricular foramen i.e. Subependymal giant cell astrocytoma SEGA: see under brain tumors

MRI:

  • Hypomyelinated lesions
  • Cortical tubers: FLAIR hyperintense, in cortical grey matter
  • Tumor near the interventricular foramen i.e. Subependymal giant cell astrocytoma SEGA: see under brain tumors

EEG:

  • Seizures, epileptiform discharges

Bone X-rays:

  • Thickening in: Skull, spine and pelvis
  • Cystic lesions in hands and feet

CXR and CT lungs:

  • Honey Combing +/-pneumothorax: pulmonary lymphangiomatosis (lymphangioleimyomatosis)

Echocardiography:

  • Rhabdomyoma

Renal ultrasound:

  • Angiomyolipoma +/-obstruction
  • Renal cysts
  • Polycystic kidney disease, if PKD2 gene is also involved

Urinalysis:

  • Hematuria may occur

Pathology:

cortical tubers: loss of cortical layer pattern, dysmorphic neurons, large astroctyes, giant cells,

Monitor:

Renal ultrasound: angiomyolipoma size
MRI brain

Treatment:

Treat complications
Renal angiomyolipomas:

  • Consider embolisation if >3 cm in diameter
  • Treat hypertension

Epilepsy:

  • Treat infantile spasms a.k.a. West syndrome
  • Treat other seizure types

SEGA tumors, treat them
Rhabdomyoma of the heart:

  • Treat arrhythmias

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