Unusual causes such as gas embolism from rapid ascents in scuba diving.Even in cases where there is a complete blockage to blood flow of a major blood vessel supplying the brain, there is typically some blood flow to the downstream tissue through collateral blood vessels, and the tissue can typically survive for some length of time that is dependent upon the level of remaining blood flow. If blood flow is reduced enough, oxygen delivery can decrease enough to cause the tissue to undergo the ischemic cascade. The ischemic cascade leads to energy failure that prevents neurons from sufficiently moving ions through active transport which leads the neurons to first cease firing, then depolarize leading to ion imbalances that cause fluid inflows and cellular edema, then undergo a complex chain of events that can lead to cell death through one or more pathways. Diagnosis
Computed tomography (CT) and MRI scanning will show damaged area in the brain, showing that the symptoms were not caused by a tumor, subdural hematoma or other brain disorder. The blockage will also appear on the angiogram. In people who die of cerebral infarction, an autopsy of stroke may give a clue about the duration from the infarction onset until the time of death. Treatment
In the last decade, similar to myocardial infarction treatment, thrombolytic drugs were introduced in the therapy of cerebral infarction. The use of intravenous rtPA therapy can be advocated in patients who arrive to stroke unit and can be fully evaluated within 3 hours of the onset.
Several methods can be used for genetic testing that can help identity this condition,
Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to identify mutations and variations that can help lead to a genetic disorder. Chromosomal genetic tests help investigate whole chromosomes or long lengths of DNA to see if there are bigger genetic changes, for example, an extra copy of a chromosome that can help cause a genetic condition. Biochemical genetic tests study the activity level and amount level of proteins; abnormalities in either can indicate changes to the DNA and result in a genetic disorder. Management
Although there has been no conclusive evidence on medications to manage the disorder, many organizations help with several aspects on living with the chronic condition, not only for the affected but also for the loved ones around them. With services like Global Genes helping contribute to this. References
Further reading
Itin P., Pittelkow M., Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias[1]. Journal of the American Academy of Dermatology, Volume 22, Issue 5, Pages 705–717
Rare Disorders: All you need to know. Trichothiodystrophy[2]. Copyright © 2005 Rare-Disorders.com
Sabinas brittle hair syndrome is a form of nonphotosensitive trichothiodystrophy; Brittle hair and mental deficit at NIHs Office of Rare Diseases


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