Tuberous sclerosis diagnostic criteria: Difference between revisions
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! colspan="2" |Updated diagnostic criteria for tuberous sclerosis complex 2012 | ! colspan="2" |Updated diagnostic criteria for tuberous sclerosis complex 2012<ref>Northrup, Hope, et al. "Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference." ''Pediatric neurology'' 49.4 (2013): 243-254.</ref> | ||
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!Major Features | !Major Features | ||
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=== Genetic testing === | === Genetic testing === | ||
* Some TSC1 or TSC2 pathogenic mutation may be sufficient to make a definite diagnosis of TSC, but nowadays it is seem as mostly a corroborative testing. | * Some TSC1 or TSC2 pathogenic mutation may be sufficient to make a definite diagnosis of TSC<ref>{{Cite web|url=https://tsa.org.au/information/diagnostic-criteria/?__cf_chl_jschl_tk__=556239f0f86cc11e9278b8903626a4794e33ec25-1592599335-0-AZ9AmivjERO8T-Qb7M5p9gYa2opAVdKykwJ-ZGo38m4051t1bZXSSce6zNrb47nx67HEtvm7KZ8BGvjZFEsQ_VQ8QZ15EFSl54hyngtbVABgr_Lq7zbuU0wPw-wsFC2YBc4NlnruWmG-rquY65USQnEnc2R0uGoUP9JqBRt8iDkxeHgB8VBAGILAhMz9gHK5Nvv7Unr7jZNLlQcTLLaMoUiEWFcmQD208FYcauAmHWJD7mLK74qFiHZKGwj47ZC7xCZfShkRg-IB2QmwpQuavHe_3fci1e-mAxOd6mIMM3yLvs7rdvfNMs22IoWT8rCCAgSTw287bRIiAlI58hSQH3sF4H5kZf1Vorpqw0KT4diWis_EEyZFyBs1Yw6fk_hZEg|title=Tuberous Sclerosis Australia|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>, but nowadays it is seem as mostly a corroborative testing. | ||
==References== | ==References== | ||
Revision as of 21:17, 19 June 2020
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Tuberous sclerosis diagnostic criteria On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
There are no pathognomonic clinical signs for tuberous sclerosis. Many signs are present in individuals who are healthy (although rarely), or who have another disease. A combination of signs, classified as major or minor, is required in order to establish a clinical diagnosis.
Diagnostic Criteria
Diagnosis is made according to the following criteria:
- Definite – Either two major features or one major feature plus two minor features.
- Probable – One major plus one minor feature.
- Suspect – Either one major feature or two or more minor features.
| Updated diagnostic criteria for tuberous sclerosis complex 2012[1] | |
|---|---|
| Major Features | Minor Features |
| Hypomelanotic macules (> or more at least 5mm diameter) | "Confetti" skin lesions |
| Angiofibromas (>3 or more) or fibrous cephalic plaque | Dental enamel pits (>3) |
| Ungual fibromas (>2 or more) | Intraoral fibromas (>2 or more) |
| Shagreen patch | Retinal achromic patch |
| Multiple retinal hamartomas | Multiple renal cysts |
| Cortical dysplasias** | Nonrenal hamartomas |
| Subependymal nodules | |
| Subependymal giant cell astrocytoma | |
| Cardiac rhabdomyoma | |
| Lymphangioleiomyomatosis* | |
| Angiomyolipomas (>2 or more) | |
- * A combination of the two major clinical features (lymphangioleiomyomatosis and angiomyolipomas) without other features does not meet criteria for a definite diagnosis.
- **includes tubers and cerebral white matter radial migration lines.
Genetic testing
- Some TSC1 or TSC2 pathogenic mutation may be sufficient to make a definite diagnosis of TSC[2], but nowadays it is seem as mostly a corroborative testing.
References
- ↑ Northrup, Hope, et al. "Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference." Pediatric neurology 49.4 (2013): 243-254.
- ↑ "Tuberous Sclerosis Australia".