A new case of the cerebro-hepato-renal syndrome is being reported. The neuropathologic changes consisted of developmental abnormalities of cerebral and cerebellar cortex and of the inferior olives. In addition, there were metabolic changes in the central nervous system, indicated by an accumulation of lipid within histiocytes of free in gray and white… (More)
We review electroencephalograms taken from 17 patients with severe meningoencephalitis within seven days of onset of CNS symptoms and prior to cortical brain biopsies. All patients had CNS disease clinically compatible with the diagnosis of herpes simplex encephalitis (HSE). The diagnosis was demonstrated by the isolation of virus from the brain in five… (More)
OBJECTIVE Penetrating carotid trauma in a hemodynamically stable patient invariably presents with a pseudoaneurysm on initial imaging. Although extremely rare, delayed pseudoaneurysm formation has been reported. The purpose of this paper is to define this rare entity and propose a diagnostic and treatment plan. METHODS We present a case of delayed… (More)
(NRC) approval for changes to the emergency action levels (EALs) for the plant. The requested changes to the licensee's EALs support a conversion from the current EAL scheme to a system based on the Nuclear Energy Institute's (NEI) Letter 99-01, " Methodology for Development of Emergency Action Levels " (Revision 4, January 2003), in accordance with… (More)
Two siblings had olivopontocerebellar degeneration, failure to thrive, hepatic fatty change and cirrhosis, and a dyslipoproteinemia characterized by low cholesterol and elevated triglycerides. This condition was distinct from other cerebellar atrophies and ataxias and was not due to malabsorption or malnutrition. Cerebellar degeneration progressed rapidly… (More)
A modified program designed to screen for the Tay-Sachs carrier is presented in which testing is limited to one or both partners, as needed, in an Ashkenazi Jewish (Jews of central and eastern Europe ancestry) mating when there is a definite commitment toward having a child, or in the early stages of the pregnancy. Testing of unmarried individuals is… (More)
Theophylline-induced seizures are reported in two neonates. The serum theophylline concentration during seizures were 51.0 mg/liter and 54.0 mg/liter. Toxic symptoms prior to seizures may be absent or undetected, suporting the necessity of blood level monitoring during theophylline therapy.
We present a case of glycogen storage disease type II (Pompe's disease) with the classical clinical presentation and characteristic electrocardiographic changes of this disorder. An acid maltase (EC 22.214.171.124) determination in the peripheral leukocytes revealed normal activity; however, acid maltase activity was completely absent in a pre-mortem skeletal… (More)