The results of a study utilizing computerized real-time sonography (CRS) to image muscles in patients with neuromuscular disease are presented for 67 patients, 37 with neuromuscular disease and 4 with upper motor neuron disease, and 26 age-matched healthy controls between the ages of 2 days and 59 years. CRS is a safe, noninvasive, atraumatic method for evaluating a broad range of neuromuscular diseases. It is capable of differentiating myopathies or dystrophies from neurogenic atrophies and floppy infants with "central" hypotonia from those with neuromuscular diseases.

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Isovaleric acidemia (IVA) is an inborn error of leucine metabolism, resulting in an accumulation of isovaleric acid in the body fluids. The neuropathologic findings in an 11-day-old infant with IVA consisted of diffuse cerebral edema, massive cerebellar hemorrhage, upward transtentorial herniation, and focal degeneration of clusters of glial cells in white and gray matter. Although abnormal myelination has been described in different aminoacidopathies, the above findings have not been reported previously in IVA.

Nine hydrocephalic infants who were less than 1 year old and 7 age-matched control subjects were examined by real-time and transcranial Doppler sonography to evaluate cerebral blood flow and to correlate it to ventricular size. These 16 infants were placed in one of three groups: infants in group 1 (n = 7) had a normal ventricular size, infants in group 2 (n = 3) had a progressively increasing ventricular size, and infants in group 3 (n = 6) had ventriculomegaly with either stable or decreasing ventricular size or a functioning ventriculoperitoneal shunt. All scans performed on group-2 infants showed markedly increased ventricular size and increased pulsatility index, while those on group-1 infants showed a normal ventricular size and pulsatility index. However, the scans of group-3 infants revealed increased ventricular size and pulsatility index for all groups. Regression analysis of the data showed rather weak correlations between ventricular size and pulsatility index for all groups. The regression data suggest that ventricular size is not the main determinant of cerebral blood flow in the neonate with hydrocephalus and that intracranial pressure may be a more critical factor. These data suggest that pulsatility index, as measured by transcranial Doppler, can be clinically more important than just the anatomical data alone in the evaluation of hydrocephaly. This points to a possible use of transcranial Doppler sonography in the evaluation of hydrocephalic patients for placement of ventriculoperitoneal shunts.

The effect of sleep on intracranial blood flow velocities has not been reported in children or adults, even though blood flow velocities are evaluated for clinical purposes during both sleep and wakefulness. We report the effect of sleep on intracranial blood flow velocities of 11 healthy individuals (five children and six adults) who were monitored by polysomnography and transcranial Doppler sonography (TCD). Thirty-three TCDs were obtained on middle cerebral arteries. Before sleep, during non-rapid-eye-movement sleep, and after sleep, measurements of systolic, end diastolic, and mean flow velocities were obtained by TCD. Pulse oximetry and end tidal carbon dioxide were monitored during each 8-hour polysomnogram. The before-sleep blood flow velocity values were compared to sleep and after-sleep values in children and adults separately using ANOVA. A significant decrease in the blood flow velocities was noted during sleep compared to before-sleep values in both children (P less than .05) and adults (P less than .01). The blood flow velocities after sleep were also decreased compared to before-sleep values. This study shows that sleep reduces blood flow velocities in both children and adults. A decrease in blood flow velocities during normal sleep should be taken into account when interpreting TCDs in patients.