Biomedical subjects

E J Novotny

Publications and source records attributed to E J Novotny.

42 records · Page 3Linked to original sources

PubMed1988

Arthrogryposis associated with connatal Pelizaeus-Merzbacher disease: case report.

A newborn with multiple congenital contractures (MCC) or arthrogryposis multiplex congenita and a leukodystrophy is described. The clinical features and neurophysiological studies suggested a disorder primarily involving the central white matter. The diagnosis of connatal Pelizaeus-Merzbacher disease was made post mortem. This disorder of myelin formation should be considered in infants presenting with arthrogryposis.

Arthrogryposis↗

PubMed1987

The brain in partial trisomy 18: a case report.

This is a clinical and neuropathological report of a 27-year-old male with partial trisomy of the long arm of chromosome 18. Severe psychomotor retardation, blindness, and epilepsy were the major clinical features. Microcephaly, an unusual diverticulum of the left occipital lobe, and severe atrophy of the visual system were the major findings on neuropathological examination.

Adult↗

PubMed1987

Positive rolandic sharp waves in the EEG of the premature infant.

Ninety-seven EEGs from 30 premature infants found to have multifocal white matter necrosis on ultrasound (US) or autopsy were reviewed retrospectively. Twenty infants had intraparenchymal echodensities on US that developed into cystic lesions, a finding consistent with periventricular leukomalacia; 8 had intraparenchymal hemorrhages; and 2 had white matter necrosis at autopsy. Four of these infants had no intraventricular hemorrhage. Positive sharp waves in the central (rolandic) regions (PRS) were identified in 22 of these 30 infants (73%) and in 0 of 30 age-matched controls (p less than 0.001). The presence of PRS on the EEG of the premature infant has a high correlation with white matter necrosis rather than with intraventricular hemorrhage. In all cases, this EEG pattern was present prior to the development of cavitations when echodensities were present on US.

Brain↗

PubMed1986

Leber's disease and dystonia: a mitochondrial disease.

We studied a kindred in which 8 members had the neuroretinopathy of Leber's disease; 14 had a progressive, generalized dystonia attributed to striatal degeneration; and 1 had both disorders. The mode of inheritance was compatible with maternal transmission. This neurologic disorder may be a mitochondrial disease.

Adolescent↗

PubMedDate not supplied

1H nuclear magnetic resonance spectroscopy study of neonatal hypoglycemia.

It has been hypothesized that the mechanism of hypoglycemic brain damage involves energy failure or excessive accumulation of excitatory neurotransmitters. To test these hypotheses, 1H nuclear magnetic resonance spectroscopy was employed to determine brain high-energy phosphates, carbohydrates, neurotransmitters, amino acids, and fatty acids during insulin-induced hypoglycemia in the neonatal dog. Reduction in brain glucose content was associated with an increase in blood/brain lactate ratio, as well as decreases in brain glutamate, aspartate, taurine, and inositol; however, no change was observed in GABA concentration or in brain energy state. In contrast to the adult experimental animal, brain tissue injury due to hypoglycemia is minimal in the neonatal animal. The mechanism of resistance to hypoglycemic brain injury may involve modulation of the rise of excitatory amino acids and decline in inhibitory neurotransmitters and high-energy phosphates.

Animals↗

PubMedDate not supplied

The coincidence of neurocutaneous melanosis and encephalofacial angiomatosis.

The case of a 21-year-old woman who was affected by both encephalofacial angiomatosis (Sturge-Weber syndrome) and neurocutaneous melanosis is reported. Her signs and symptoms consisted of an interesting overlap of the characteristics of these two neurocutaneous syndromes with glaucoma, hydrocephalus, epilepsy, mental retardation and vascular and melanotic skin lesions observed throughout her course. The clinical diagnosis presented considerable difficulties. The simultaneous occurrence of these two disorders has not been previously reported and this is the first reported case where the cutaneous lesions and their histology, the neuropathology and the clinical features of both disorders is described in one individual.

Adult↗