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Biomedical subjects

B R Tharp

Publications and source records attributed to B R Tharp.

35 records · Page 2Linked to original sources

Cherry-red spot-myoclonus syndrome.

A 21-year-old woman had typical clinical and biochemical findings of the cherry-red spot-myoclonus syndrome. She had 20/50 acuity in each eye, flutter-like ocular oscillations, rebound nystagmus, and transient vertical dissociation. Cherry-red maculas and optic atrophy were present. Although electroretinographic signals were normal, visual evoked potentials were almost absent. Levels of neuraminidase were significantly reduced in cultured ebroblasts from the patient and her parents, while lysosomal inclusions probably containing oligosaccharides were found in her conjunctival fibroblasts.

Adolescent↗

Juvenile neuroaxonal dystrophy: clinical, electrophysiological, and neuropathological features.

We describe 2 brothers with progressive myoclonus epilepsy that began in the second decade and was associated with cerebellar ataxia and intellectual deterioration. Electroencephalographic and cerebral evoked potential studies showed findings associated with myoclonus epilepsy. Neuropathological examination of 1 of the brothers, who died at age 23 years, revealed widespread changes of neuroaxonal dystrophy without pigment deposition in the basal ganglia. We propose the term juvenile neuroaxonal dystrophy (JNAD) to distinguish this condition on clinical grounds from infantile neuroaxonal dystrophy on the one hand, and on clinical and pathological grounds from Hallervorden-Spatz disease on the other hand. JNAD, while exceedinly rare, must be considered in the differential diagnosis of the progressive myoclonus epilepsies.

Adolescent↗

Infantile hemifacial spasm.

A 6-week-old infant had recurrent contractions of the facial musculature on the left side, which continued throughout early childhood. Surgical exploration at 5 1/2 years of age revealed a ganglioneuroma of the fourth ventricle. Hemifacial spasm (HFS) in infancy and childhood suggests the possibility of serious intracranial pathologic findings.

Age Factors↗

Prognostic value of EEG in neonatal meningitis: retrospective study of 29 infants.

Neonatal meningitis is associated with significant neurologic sequelae. Previous studies from our laboratory and others demonstrated electroencephalography (EEG) to be a useful tool in predicting long-term neurologic outcome in at-risk neonates. We, therefore, retrospectively studied 29 infants with culture-proved neonatal meningitis who died in the neonatal period or survived to follow-up at a mean of 34.4 months. Seventy-five EEGs were obtained during the acute phase of infection; the degree of EEG background abnormality proved to be an accurate predictor of outcome. Infants who had normal or mildly abnormal backgrounds had normal outcomes, whereas those with markedly abnormal EEGs died or manifested severe neurologic sequelae at follow-up. When the EEG was considered with the presence or absence of seizures and the level of consciousness, an accurate prediction of neurologic outcome was obtained in 27 infants (93%). Although the EEG patterns were generally nonspecific, some abnormalities, such as positive rolandic sharp waves, persistent hemispheric or focal voltage attenuation, suggested more specific pathology (i.e., deep white matter necrosis, large-vessel infarction and abscess, respectively). EEG was also valuable for the recognition of subtle and subclinical seizures. Therefore, we conclude that EEG is a valuable tool for predicting the long-term prognoses of infants with neonatal meningitis.

Birth Weight↗

Unique EEG pattern (comb-like rhythm) in neonatal maple syrup urine disease.

A unique electroencephalographic pattern (the comb-like rhythm) is described in an infant with neonatal (classic) maple syrup urine disease. This pattern consists of bursts and runs of 5-7 Hz primarily monophasic negative (mu-like) activity in the central and central-parasagittal regions during wakefulness and sleep with the most abundant bursts occurring during quiet (non-REM) sleep. This pattern appeared during the first 2 weeks of life and was absent in the recording obtained 40 days after the initiation of dietary therapy. In the proper clinical setting this electroencephalographic pattern is diagnostic of maple syrup urine disease and can be distinguished from similar patterns occurring in normal infants and those with other encephalopathies.

Amino Acids, Branched-Chain↗