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