The clinical, virological, and haematological features of the congenital rubella syndrome have been well documented in the recent American paediatric literature, as a result of the epidemic which occurred in 1964. However, apart from isolated case reports (Lambert, Stern, and Wellsteed, 1965; Stern and Williams, 1966; Menser, Dorman, Reye, and Reid, 1966) pathological data have been limited to ...

From 65 reported cases of medium chain acyl-CoA dehydrogenase deficiency, we found an average presenting age of 13.5 months and a mean age at death of 18.5 months. One quarter of patients died of a Reye-like syndrome and/or sudden infant death. In half the cases there had been at least one sibling death. Asymptomatic cases were not uncommon (12% of cases). The crises were generally induced by a...

Inspectable student models focus on the idea of letting students and teachers interact with the representation of the student that the system maintains. Both humans and the system can benefit from this interaction. By externalizing the student model and making it an object for inspection, several representational and interaction issues arise. This paper presents ViSMod (Visualization of Bayesia...

Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. MCAD deficiency usually presents around three to six months of life, following catabolic stress as intercurrent infections or prolonged...

Human mitochondrial trifunctional protein (TFP) is a heterooctamer of four alpha- and four beta-subunits that catalyzes three steps in the beta-oxidation spiral of long-chain fatty acids. TFP deficiency causes a Reye-like syndrome, cardiomyopathy, or sudden, unexpected death. We delineated the molecular basis for TFP deficiency in two patients with a unique phenotype characterized by chronic pr...

Acute hyperammonemia resulting from congenital urea cycle disorders, Reye syndrome or acute liver failure results in severe neuronal dysfunction, seizures and death. Increasing evidence suggests that acute hyperammonemia results in alterations of mitochondrial and cellular energy function resulting from ammonia-induced inhibition of the tricarboxylic acid cycle enzyme alpha-ketoglutarate dehydr...

We present a case with frontal lobe symptoms and Klüver-Bucy-like syndrome following subarachnoid hemorrhage and hydrocephaly. Klüver-Bucy syndrome is a rare neurobehavioral condition characterized by placidity, visual agnosia, hypersexuality, hyperorality, and hypermetamorphosis (the tendency to react to or to touch every visual stimulus). The syndrome is usually associated with lesions of the...

The aim of this study was to analyse glycosphingolipid expression in cerebrospinal fluid (CSF) from one idiopathic West syndrome (IWS) infant, one with Reye like syndrome, and one with congenital hydrocephalus, in comparison to control group (n=7) using highly sensitive thin-layer chromatography-immunostaining methods. Gangliotetraose-series gangliosides (acidic glycosphingolipids) were not det...

BACKGROUND Patients with propionic acidemia usually present in the neonatal period with life-threatening ketoacidosis, often complicated by hyperammonemia. It was thought that the neurologic abnormalities seen in this disease were exclusively the consequences of these acute crises. Experience with 2 patients with propionic acidemia indicates that this disease may present first with prominent ne...

Elevated concentrations of cytokines were found in the plasma of patients acutely ill with Reye syndrome (RS) but not in control subjects or recovered RS patients. To determine whether this disorder involves a genetically determined abnormal response to cytokines, the effects of tumor necrosis factor (TNF) and IL-I on intracellular free Ca2" were compared in cultured skin fibroblasts from contr...