Tuberous sclerosis history and symptoms: Difference between revisions

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==History and Symptoms==
==History and Symptoms==
* Skin problems, such as light patches and thickened skin
* [[Seizures]]
* [[Behavior problems]]
* Learning disabilities - seen in 50% patients ranging from mild to profound,<ref name="memory-deficits">{{cite journal
| author = Ridler K, ''et al''
| title = Neuroanatomical Correlates of Memory Deficits in Tuberous Sclerosis Complex
| journal = Cerebral Cortex
| year = 2006
| id = PMID 16603714 }}</ref> and studies have reported that between 25% and 61% of affected individuals meet the diagnostic criteria for [[autism]], with an even higher proportion showing features of a broader [[pervasive developmental disorder]].<ref name="autism-prevalence">{{cite journal
| author = Harrison JE, Bolton, PF
| title = Annotation: Tuberous sclerosis
| journal = Journal of Child Psychology and Psychiatry
| year = 1997
| pages = 603-614
| volume = 38
| id = PMID 9315970}}</ref>
* [[Mental retardation]]
* Kidney problems


Most of the neurologic manifestations of tuberous sclerosis are due to the effects of hamartia (malformed tissue such as the cortical tubers),[[hamartoma]]s (benign growths such as facial [[angiofibroma]] and subependymal nodules) and, very rarely, cancerous hamartoblastomas on the brain tissue.
==References==
 
In infants, the first clue is often the presence of [[seizures]], [[delayed development]] or white patches on the skin.  A full clinical diagnostic workup should be undertaken in such situations.<ref name="TSFactSheet">{{cite web
| url = http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm
| title = Tuberous Sclerosis Fact Sheet
| accessdate = 2006-10-03
| date = [[2006-04-11]]
| publisher = National Institute of Neurological Disorders and Stroke
}}</ref><ref name="TSAclinicalGuidelines">{{cite web
| url = http://www.tuberous-sclerosis.org/publications/clinicalguidelinessummary.pdf
| title = Summary of Clinical guidelines for the care of patients with Tuberous Sclerosis Complex
| accessdate = 2006-10-03
| year = 2002
| month = April
| publisher = Tuberous Sclerosis Association
}}</ref>


==References==
==References==

Revision as of 00:10, 18 June 2020