Tuberous Sclerosis

Ira Shah
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Diagnostic Criteria
Table 1. Diagnostic criteria for Tuberous sclerosis

Primary features (Only one feature is required to make a diagnosis) Secondary features (Two or more features are required to make a diagnosis)
  • Classical Shagreen patches.
  • Ungual fibroma
  • Retinal hamartoma
  • Facial angiofibroma
  • Subependymal glial nodules
  • Renal angiomyolipoma
  • Hypomelanotic macules
  • Gingival fibromas
  • Bilateral polycystic kidneys
  • Cardiac rhabdomyoma
  • Cortical tuber (histological)
  • Radiographic 'honeycomb' lungs
  • Infantile spasms
  • Myoclonic, tonic or atonic seizures
  • First degree relative with tuberous sclerosis
  • Forehead fibrous plaque
  • Giant cell astrocytoma

Reference: Tuberous sclerosis Medical Booklet, modified from Gomez(2)

In 2/3rd of the cases, tuberous sclerosis is a spontaneous mutation and no one else in the family is affected. There are no definitive tests to diagnose tuberous sclerosis in the unborn. Sometimes echocardiography of the baby's heart during mid - pregnancy may provide evidence of lesions but gives no indication of how severely the baby is affected.

Since the effects of Tuberous sclerosis are variable, the condition can be diagnosed anytime from infancy to adulthood. By the age of 5 - 10 yrs, it is possible to predict the extent of the disease and problems that can occur later.
A classical picture of Tuberous sclerosis is mental retardation, epilepsy and adenoma sebaceum. Depending upon the age of the child, the following tests are done:
- Brain MRI or CT Scan
- EEG
- Skin examination under UV light (Wood's Lamp)
- Echocardiogram of the heart
- Ultrasound of the kidneys
- Eye examination
- Blood test to check renal functioning and anemia


References
Tuberous Sclerosis Tuberous Sclerosis 02/27/2001
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