Fred A. Ziter

Cranial CT appearance of acute multiple sclerosis

In acute multiple sclerosis, cranial computerized tomography (CT) may show periventricular and deep white matter contrast-enhanced lesions that are easier to see using 8 mm rather than 13 mm cranial CT sections. Follow-up studies show that the lesions evolve either to areas of density similar to the surrounding white matter or to low-density lesions. We presume they represent foci of active demyelination with extravasation of iodine through an altered blood-brain barrier. Enhanced cranial CT studies may be helpful in diagnosing acute multiple sclerosis and in following the course of the white matter lesions.

The coincidence of neuroblastoma and acute cerebellar encephalopathy

Three patients with neuroblastoma and acute cerebellar encephalopathy are reported. This coincidence of disease occurs more commonly than one would expect on the basis of chance. This observation is supported by the finding of six other cases cited in the literature. The pathogenesis which underlies the relationship is obscure. The authors suggest that all patients with acute cerebellar encephalopathy be surveyed for an inapparent neuroblastoma. The search should include chest and skeletal roentgenograms, intravenous urogram, bone marrow examination for malignant cells, and determination of the urinary excretion of catecholamines and possibly cystathionine.

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.

Creatine kinase in developing skeletal and cardiac muscle of the rat

Abstract This paper reports the changes in specific activity and isoenzyme pattern of creatine kinase in skeletal and cardiac muscle of Holtzman rats during development. There is a rapid accumulation of enzyme after day 17 of gestation and, starting at a slightly earlier time, a transition from “brain” to “heart” and then to predominantly “muscle” isoenzyme takes place. Although the changes are similar in the two types of muscle, important differences are found. The specific activity of creatine kinase is much lower in developing and mature cardiac muscle, but adult levels of the enzyme are approximated sooner in cardiac than in skeletal muscle tissue. The changes in isoenzymes are more gradual and less profound in cardiac muscle than in skeletal muscle. The factors which may relate to these striking changes in creatine kinase are discussed.

Cardiac arrest during induction of anesthesia in Duchenne muscular dystrophy.

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Rigid Spine Syndrome: A Type I Fiber Myopathy

The rigid spine syndrome is an unusual disorder characterized by nonprogressive mild axial and proximal muscle weakness, flexion contractures of the neck and spine, scoliosis, and joint contractures. The biopsy specimen from the patient described in this report shows type I fiber hypotrophy and predominance. This contrasts with previous reports that describe connective tissue proliferation as the major histologic abnormality.

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. The atrial arrhythmias are treatable by pacemaker if the diagnosis is established beforehand.

A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness†

Two sisters with signs of growth failure, severe muscle weakness, and moderate neural deafness had identical abnormalities on muscle biopsy. Light microscopy revealed areas of “granular necrosis” which proved to be large and numerous mitochondria. Biochemical assessment has revealed large amounts of alanine in the urine, as well as hyperalaninemia and reduced clearance from the blood of an oral alanine load. Pyruvate concentration in the blood was found to be elevated, and each girl had marked lactic acidemia. This led to a fatal episode of lactic acidosis in the younger girl.

Defective neutrophil function in myotonic dystrophy

Abstract Polymorphonuclear leukocytes (PMNs), obtained from 10 patients with myotonic dystrophy and 39 age-matched controls, were tested for chemotactic activity, chemiluminescence (CL), and phagocytosis. PMNs from 8 of the 10 patients had depressed chemotactic indexes (30 ± 23) as compared to controls (61 ± 18) (P

Serum creatine phoshokinase and pyruvate kinase in neuromuscular disorders and Duchenne dystrophy carries

Serum levels of creatine phosphokinase (CPK) and pyruvic kinase (PK) were determined on 42 controls, 57 patients with various neuromuscular disorders, and 23 female relatives of Duchenne dystrophy patients. CPK and PK enzyme activities were increased incomparable numbers of muscle disease patients and female carriers; there was no advantage in the combined use of the two tests. We did not confirm earlier reports suggesting that determination of PK is more valuable than CPK in carrier detection.