Thoracic spinal stenosis associated with renal osteodystrophy. Diagnosis based on magnetic resonance imaging and computed tomography.

We describe a case of thoracic myelopathy in a patient with renal osteodystrophy. The patient had chronic renal failure for longer than 20 years and had skeletal changes indicative of renal osteodystrophy, before the onset of myelopathy. Association between spinal stenosis and this entity has been documented only once before in the lumbar region.

The natural history of amyotrophic lateral sclerosis.

Using 42 strength and functional assessments recorded monthly, the natural history of amyotrophic lateral sclerosis (ALS) is described in 167 patients (98 men, 67 women) followed in five medical centers in the western United States. The mean age at onset was 57.4 years, and symptoms were present for 2.

Evidence of genetic heterogeneity among the nondystrophic myotonias.

Recent in vitro electrophysiologic studies have demonstrated abnormal sodium channel gating in muscle from patients with Thomsen's disease and have called the chloride hypothesis into question. Abnormal sodium channel function, like myotonia, is a feature common to Thomsen's disease and several myotonias that are genetically linked to a chromosome-17q sodium channel locus. We present a pedigree segregating an allele for Thomsen's disease that is unlinked to this sodium channel locus, thus constituting evidence of genetic heterogeneity among the nondystrophic myotonias.

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.

SPINAL muscular atrophy (SMA) describes a group of heritable degenerative diseases that selectively affect the alpha-motor neuron. Childhood-onset SMAs rank second in frequency to cystic fibrosis among autosomal recessive disorders, and are the leading cause of heritable infant mortality. Predictions that genetic heterogeneity underlies the differences between types of SMA, together with the aggressive nature of the most-severe infantile form, make linkage analysis of SMA potentially complex.

The femoral head notch.

A notch-like defect at the vertex of the proximal femoral ossification center is a normal variant in children. This has often been mistaken for Legg-Perthes disease. This sharply defined defect is distinct from the irregular epiphyseal ossification patterns common in other areas.

Childhood eosinophilic fasciitis--progression to linear scleroderma.

A 2-year 10-month old girl developed eosinophilic fasciitis that resolved within one year after the administration of prednisone. She was left with changes similar to chronic linear scleroderma. Our case illustrates that eosinophilic fasciitis can occur in very young children and reinforces the hypothesis that it may be an early manifestation of scleroderma.

The lateral chest film and pneumoperitoneum.

The erect posteroanterior chest film has long been considered the most sensitive for the detection of intraperitoneal free air. A review of 21 cases of pneumoperitoneum showed three with air present on the lateral but not on the frontal chest radiograph. An explanation for this finding is proposed.

Identification of minimal expression of myotonic dystrophy using electroretinography.

The electroretinograms (ERGs) of patients with definite myotonic dystrophy were studied as well as neurologically asymptomatic patients with minimal expression of myotonic dystrophy. Children in 4 families exhibited definite myotonic dystrophy when neither parent exhibited clinical or electromyographic signs of myotonic dystrophy. Myotonic dystrophy is dominantly inherited.

The upper femoral notch.

A notch-like defect in the cortex of the medial side of the femoral neck is described in asymptomatic children. Its appearance is similar to the metaphyseal cortical defects seen in other locations as normal variants.

Emery-Dreifuss muscular dystrophy.

Emery-Dreifuss dystrophy, an X-linked disorder, is a recently recognized distinct neuromuscular disease with special pediatric implications. We describe three affected boys with the typical early contractures and weakness. Two patients are from a large kindred that includes older affected males and carrier females, both of whom had lethal cardiac disease by mid-adulthood.

Pentazocine abuse masquerading as familial myopathy.

A 58-year-old man and his two young adult children showed fixed abduction of the arms, mild proximal weakness, and muscle induration. The skin over the upper arms, buttocks, and thighs was sclerotic and contained numerous healed punctate ulcers. One patient required skin grafting because of large, active ulcers on both arms.

The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes.

The Robin sequence is a pathogenetically and etiologically heterogeneous conditions that can be an isolated defect or one feature of many different syndromes. The association of this pattern of malformation with neuromuscular conditions has been alluded to in the literature but not well documented. We report a family with a distinct neuromuscular condition that includes the Robin sequence and discuss the human syndromes and animal models in which the Robin sequence occurs.

Drug trial of superoxide dismutase in Duchenne's muscular dystrophy.

A multicenter, randomized, double-blind, placebo-controlled drug trial in Duchenne's muscular dystrophy, evaluating a superoxide dismutase in 51 ambulatory patients for 18 months was conducted. Fourteen aspects of muscle strength and five of functional ability, as well as serum creatine phosphokinase (CPK) level were studied. The total change in strength, function, and CPK level did not differ significantly in the two groups.

Childhood chronic relapsing polyneuropathy: dramatic improvement following plasmapheresis.

We present clinical data on two boys with chronic relapsing polyneuropathy. Their recurrent episodes of weakness had produced marked disability which was unresponsive to continuous prednisone therapy. Plasmapheresis produced dramatic improvement in muscle strength and functional ability.

Supine subpulmonary pneumothorax.

Intrapleural air often assumes a subpulmonary position in the recumbent patient even in the absence of underlying pulmonary disease. The margins of the collapsed lung may be difficult or impossible to detect, and a poorly defined basilar hyperlucency may be the only clue present. Additional helpful findings include depression and clear visualization of the diaphragm anteriorly (anterior costophrenic sulcus) creating a "double" appearance to the diaphragm, an unusually distinct cardiac apex, and pericardial fat tags.

An aberrant adenylate kinase isoenzyme from the serum of patients with Duchenne muscular dystrophy.

The sera from patients with human Duchenne (X-linked) progressive muscular dystrophy contain elevated adenylate kinase (ATP: AMP phosphotransferase, EC 2.7.4.

Loss of strength and functional decline in Duchenne's dystrophy.

Clinical tests of strength and function were performed on 27 ambulatory patients with Duchenne's dystrophy every three months for 2 1/2 years. Linear decline of strength remains a fundamental characteristic of Duchenne's dystrophy. Although generally considered a homogeneous disease, our patients showed a broad spectrum of disability.

Epidemiology of myelomeningocele in Utah.

This study suggests that in the Intermountain area of the United States (Utah, Wyoming, Idaho and Montana) there is an effect of social class on the incidence of myelomeningocele: the higher the social class the less the incidence. This survey also suggests that there is an influence from the social class in which the mother was raised, as well as that into which she marries. Birth order and maternal age were found to have no influence on the incidence of myelomeningocele in this study.