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 28,634 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe an eight-month-old infant who had an unusually fulminant and fatal course of Reye's syndrome. The patient died 36 hours after admission because of irreversible circulatory failure not associated with clinical symptoms of increased intracranial pressure or cerebral herniation. Autopsy revealed the pathognomonic fatty degeneration of the liver and heart of Reye's syndrome, but the brain was normal. In addition, a marked inflammatory infiltration of the myocardium was also observed, which indicated that acute myocarditis had been the preceding underlying disease. This case report emphasizes the fact that the viral prodrome preceding Reye's syndrome may not be as benign as often observed with influenza and varicella. Acute myocarditis and Reye's syndrome are also a combination which may result in fatal cardiovascular collapse.
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PMID:Reye's syndrome associated with acute myocarditis and fatal circulatory failure. 152 Mar 89

Twenty three sporadic cases of Reye's syndrome diagnosed according to widely accepted criteria were seen between 1979 and 1982. The patients were younger than those reported from North America (median age 9 months), girls were twice as common as boys, and the syndrome presented twice as frequently in the summer 6 months. The annual incidence was 1.4 cases/100 000 among children aged less than 4 years. The prodrome consisted of upper respiratory symptoms in 61% of the children and even less specific features in more than 25%; two patients had varicella. Six of the 23 patients presented after a prodrome of less than 24 hours with 'acute collapse', simulating 'near miss' cot death associated with profound hypoglycaemia, and in four of these there was an unfavourable outcome. Intensive care methods including judicious fluid restriction coupled with 'prophylactic' hyperventilation (87%), direct monitoring of intracranial pressure (70%), and barbiturate coma (52%) achieved neurologically intact survival in 74% of patients. Failure to recognise the syndrome early enough or to manage it appropriately resulted in four deaths. To help reduce overall mortality in the United Kingdom paediatricians have a duty to acquaint family doctors and emergency department staff of the earliest clinical features of Reye's syndrome and of the need for immediate hospital referral.
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PMID:Clinical features and prognosis of Reye's syndrome. 671 71

Defects in mitochondrial beta-oxidation may result in severe metabolic crisis after metabolic stress. The combination of hypoketotic hypoglycaemia and concurrent collapse of mitochondrial metabolic function may be very similar to that in Reye syndrome. Chronic effects on cardiac and skeletal muscle may be seen in some patients with defective long-chain fatty acid oxidation. Less common symptoms include peripheral neuropathy, pigmentary retinopathy, and failure to thrive with recurrent diarrhoea or vomiting. Collectively, such disorders are relatively common and their association with sudden infant death leads to a considerable demand for laboratory investigation. Currently the laboratory methods available are not capable of dealing with this demand in a rational and cost-effective manner and it is necessary to have careful clinically- and pathologically-based selection procedures if a useful service is to result.
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PMID:Defects in mitochondrial fatty acid oxidation: clinical presentations and their role in sudden infant death. 844 23

In a personal series of 107 patients, we describe clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation (FAO) defects. As a whole, FAO disorders appear very severe: among the 107 patients, only 57 are still living. Including 47 siblings who died early in infancy, in total 97 patients died, of whom 30% died within the first week of life and 69% before 1 year. Twenty-eight patients presented in the neonatal period with sudden death, heart beat disorders, or neurological distress with various metabolic disturbances. Hepatic presentations were observed in 73% of patients (steatosis, hypoketotic hypoglycaemia, hepatomegaly, Reye syndrome). True hepatic failure was rare (10%); cholestasis was observed in one patient with LCHAD deficiency. Cardiac presentations were observed in 51% of patients: 67% patients presented with cardiomyopathy, mostly hypertrophic, and 47% of patients had heart beat disorders with various conduction abnormalities and arrhythmias responsible for collapse, near-miss and sudden unexpected death. All enzymatic blocks affecting FAO except CPT I and MCAD were found associated with cardiac signs. Muscular signs were observed in 51% of patients (of whom 64% had myalgias or paroxysmal myoglobinuria, and 29% had progressive proximal myopathy). Chronic neurologic presentation was rare, except in LCHAD deficiency (retinitis pigmentosa and peripheral neuropathy). Renal presentation (tubulopathy) and transient renal failure were observed in 27% of patients. The diagnosis of FAO disorders is generally based on the plasma acylcarnitine profile determined by FAB-MS/MS from simple blood spots collected on a Guthrie card. Urinary organic acid profile and total and free plasma carnitine can also be very helpful, mostly in acute attacks. If there is no significant disturbance between attacks, the diagnosis is based upon a long-chain fatty acid loading test, fasting test, and in vitro studies of fatty acid oxidation on fresh lymphocytes or cultured fibroblasts. Treatment includes avoiding fasting or catabolism, suppressing lipolysis, and carnitine supplementation. The long-term dietary therapy aims to prevent periods of fasting and restrict long-chain fatty acid intake with supplementation of medium-chain triglycerides. Despite these therapeutic measures, the long-term prognosis remains uncertain.
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PMID:Recognition and management of fatty acid oxidation defects: a series of 107 patients. 1040 81