Peter H. Berman

31P NMR studies in Duchenne muscular dystrophy: Age‐related metabolic changes

To evaluate possible progressive metabolic changes in Duchenne muscular dystrophy, we used 31P nuclear magnetic resonance spectroscopy to measure high-energy phosphate compounds and phosphorylated diesters (PDE) in resting gastrocnemius muscle of 14 Duchenne patients and 10 normal boys. The patients had higher inorganic phosphate (Pi), intracellular pH, and PDE; and lower phosphocreatine (PCr) and PCr/Pi ratio; ATP was not significantly different. The patients showed significant age-related decreases in PCr and PCr/Pi, and increases in Pi and PDE, but ATP did not change. In normal boys, ATP increased with age, but PCr and Pi did not. These studies imply progressive metabolic deterioration in Duchenne dystrophy.

Pallid Breath-holding Spells Evaluation of the Autonomic Nervous System

Excessive vagal tone has been implicated as the cause of pallid breath-holding spells (PBHS) in children. The following study was undertaken to test the hypothesis that children with PBHS have underlying autonomic nervous system (ANS) dysfunction. Five patients (age 29-79 months old) who had experienced PBHS were evaluated at a time when they were clear of spells for ANS dysfunction. A battery of clinical bedside tests were given. The results were compared with test results of a control group of children (age 18-104 months) who had not experienced PBHS. Data collected included blood pressure, pulse rate, mean arterial pressure, the 30:15 R-R ratio upon standing, the expiratory:inspiratory (E:I) R-R ratio, pupillary response to conjunctival pilocarpine instillation, and plasma norepinephrine levels upon standing. Breath-holders displayed a statistically significant (p < 0.05) percent decrease in mean arterial pressure (-10.2% PBHS vs. -4.1% controls) and an unsustained increase in pulse rate during the lying to standing maneuver. Two children with PBHS had positive orthostatic signs, and one child with PBHS had a plasma norepinephrine level of 94 pg/ml (60% below the mean for both groups). There is evidence to suggest a subtle, underlying, generalized autonomic dysfunction in children with PBHS. A strong familial tendency toward syncope, breath-holding spells, and seizures was recognized in nine of ten subjects. Additionally, there was a strong influence from the maternal side of the family in seven of nine subjects.

Dental and occlusal characteristics of children with neuromuscular disease

Seventy-nine pediatric patients with neuromuscular diseases were examined for dental and occlusal characteristics. Fifty-six patients suffered from primary muscle disease (myopathies) including 43 with Duchennes muscular dystrophy. The neuromuscular disorders in 19 patients were of neuropathic origin, while four were caused by a fault in the neuromuscular junction. Posterior crossbites occurred more often in the myopathies (57%) as compared with the neurogenic dystrophies (14%) (P less than 0.003). Although not statistically significant, the prevalence of open bite was also higher in the combined myopathies (21%) as compared with neurogenic disorders (9%). The Duchenne patients exhibited a statistically significant delay in dental emergence (1.06 years), unlike the other myopathies (0.31 years) and the neurogenic disorders groups (-0.03 years). This study emphasizes the influence of muscular environment on dental development in general. The dentition may be more affected in muscular dystrophies stemming from degenerative or inflammatory muscle damage than in those originating from nerve malfunction or disorder of the neuromuscular junction.

Recent advances in the diagnosis, treatment, and prognosis of neonatal seizures.

Current knowledge about the diagnosis, treatment, and prognosis of neonatal seizures is reviewed. The pitfalls in establishing the diagnosis are emphasized and the usefulness of new electrodiagnostic techniques is discussed. A protocol for treating neonatal seizures is suggested. Finally, the clinical and electroencephalographic variables which are relevant in determining neurologic outcome are discussed.

Cell population density and phenotypic expression of tissue culture fibroblasts from heterozygotes of Lesch-Nyhan's disease (inosinate pyrophosphorylase deficiency)

Radioautographic examination of skin fibroblasts grown in tissue culture from normal donors revealed heavy labeling of almost all cells following incubation with tritiated hypoxanthine. Cells from patients with Lesch-Nyhans disease, lacking inosinate pyrophosphorylase, had only 10 grains or less per cell. When normal and abnormal cells were mixed prior to culture, there was a progressive increase, with culture time, in the percentage of heavily labeled cells so that by 96 hr, when the cells were confluent, over 95% of the cells were heavily labeled. Reduction of cell density by subculture produced a reversion to original values. Cultures from three obligatory heterozygotes revealed the expected mixed population of cells. This appears to be a practical approach to the identification of the heterozygote.

Correlation of measles and subacute sclerosing panencephalitis.

THE SUGGESTIVE association of measles with subacute sclerosing panencephalitis ( SSPE) has recently been documented.13 The evidence to support such an association has included: 1) the presence of “measles-like” intracellular virus bodies on electronmicroscopic study of brain tissue from patients with SSPE; 2) the presence of “measles-like” antigen in the brain, as indicated by fluorescent antibody tests; and 3) the presence of abnormally high measles antibody titers in the serum of patients with the disease. During the past year we have had an opportunity to study the measles antibody pattern in an 8 year old girl with subacute sclerosing panencephalitis which occurred 7 years after an attack of measles. These observations have been correlated with the results of a 7 year follow-up of 46 children who had natural measles in 1960. All measles antibody studies were performed by the highly sensitive hemagglutination-inhibition (HI) test described by Norrby.4

Stereoscopic Form Disappearance in Temporal Lobe Dysfunction

Summary Fifteen children, 7 to 13 years old, viewed stereoscopic materials in which paired forms could be distinguished from their surround by relative depth. When asked to fixate upon one form member, children with temporal lobe seizure disorders reported a disappearance of the other form significantly more often than children with seizures which were not specific to temporal regions and children without seizure disturbances. Contextual differences within stimulus materials did not affect this differential performance.