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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Our ability to identify cerebrovascular lesions in children has improved in recent years and with it our willingness to consider the diagnosis of cerebrovascular disease in children. Magnetic resonance angiography and other tests have made diagnosis easier and safer, particularly in very young children and in patients with sickle cell disease. Transcranial Doppler examination makes it possible to accurately predict without angiography which patients with sickle cell disease are at most risk for stroke. Many patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome have a specific mutation of the mitochondrial DNA, and soon the recently devised diagnostic criteria for MELAS syndrome may be replaced by molecular markers. There are many causes of cerebrovascular disease in children, and a thorough evaluation will discover a likely cause in about two thirds of the patients. Recent attention has focused on the HLA-B51 antigen and chicken pox as possible risk factors. Magnetic resonance imaging is also helpful in assessing the prognosis of children with cerebrovascular disease or head trauma.
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PMID:Cerebrovascular disorders and trauma in children. 812 17

Several hereditary disorders induce angiopathy in the intracranial cerebrovasculature and thus cause ischemic strokes. MELAS is a maternally inherited mitochondrial disorder that produces stroke-like events. Sickle cell disease, which is the result of a single base pair substitution, is a major cause of strokes in children. Homocystinuria, an autosomal recessive syndrome, produces premature atherosclerosis. Hereditary cerebroretinal vasculopathy is an autosomal dominant disorder that causes retinal and brain infarctions. Fabry disease is an x-linked disorder that can cause stroke in adults. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is an autosomal dominant syndrome that is associated with ischemic stroke and migraine-like headaches. The clinical presentation, stroke pathophysiology, and gene defects associated with these heritable disorders are reviewed.
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PMID:Mendelian and mitochondrial disorders associated with stroke. 1790 83