Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022116 (ischemia)
 91,303 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital suprabulbar palsy is clinically characterized by problems of feeding, swallowing, drooling, and dysarthria. Epilepsy, delayed motor, cognitive, and language development, as well as learning disabilities may co-exist. Aetiology of the syndrome is diverse, yet studies often attribute it to specific entities. We report on nine patients (seven males, two females; age range 2 to 20 years), highlighting the heterogeneous causes of suprabulbar palsy using neuroimaging and emphasizing the need for systematic investigation for early detection and management. We identified patients with symmetrical infarcts involving the perisylvian region, apart from already-recognized conditions, such as congenital bilateral perisylvian syndrome (CBPS; a neuronal migration disorder) and Worster-Drought syndrome. CBPS simulates Foix-Chavany-Marie syndrome in adults because of staged stroke but differs in many respects. Anoxia or ischemia to the developing brain could be a common plausible aetiology. Studies with large groups of patients are required to differentiate the various subgroups and identify essential criteria for diagnosis.
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PMID:Congenital suprabulbar palsy: a distinct clinical syndrome of heterogeneous aetiology. 1534 22

A 57-year-old man presented with sudden onset of leg pain, right-sided weakness, aphasia, confusion, drooling, and severe lactic acidosis (15 mmol/L). He had normal peripheral pulses and demonstrated no pain, pallor, poikilothermia, paresthesia, or paralysis. Empiric antibiotics, aspirin, full-dose enoxaparin, and intravenous fluid were initiated. Lactic acid level decreased to 2.5 mmol/L. The patient was subsequently extubated and was alert and oriented with no complaints of leg or abdominal pain. Unexpectedly, the patient developed cardiac arrest, rebound severe lactic acidosis (8.13 mmol/L), and signs of acute limb ischemia. Emergent computed tomography of the aorta confirmed infrarenal aortoiliac thrombosis. Transient leg pain and transient severe lactic acidosis can be unusual presentations of severe infrarenal aortoiliac stenosis. When in doubt, vascular studies should be implemented without delay to identify this catastrophic diagnosis.
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PMID:Obscure Severe Infrarenal Aortoiliac Stenosis With Severe Transient Lactic Acidosis. 2642 69