Muscle CT, biopsy and EMG in diagnosis of neuromuscular diseases.

The diagnostic value of EMG and muscle biopsy has been compared with muscle CT in 53 patients with neuromuscular diseases. CT concordance with clinical diagnosis was found in 62% of myopathies and was highest in Duchenne PMD and scapulo-peroneal myopathy and very low in metabolic and inflammatory myopathies. In neurogenic diseases muscle CT agreed with clinical diagnosis in 63% of patients: the highest concordance was found in acquired polyneuropathies.

Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy: a genetic variant of Emery-Dreifuss disease?

Two females mother and daughter, were affected by a neuromuscular disorder, characterized by slow progression, humeroperoneal weakness and wasting, limited neck flexion, elbow and ankle joint contractures, cardiopathy and myopathic pattern on EMG. Muscle histology and histochemistry showed type I fiber atrophy and predominance in both. Cardiac abnormalities, in the first case, were suggestive of a hypertrophic cardiomyopathy while in the second hypotension and chronic bradycardia were present. Neurological signs, EMG and morphology seemed to point to a genetic variant of the form of dystrophy named Emery-Dreifuss disease. The mode of transmission and cardiac abnormalities, however, raise the problem of variability even in this well-defined, usually X-linked, disorder.

CT and the diagnosis of myopathies. Preliminary findings in 42 cases.

A total of 42 patients with myopathies underwent CT scans in order to study the relationship between CT images and clinical findings. CT is a valuable diagnostic aid to distinguish primary from neurogenic myopathies, to facilitate directed biopsy and finally to classify the disease according to the degree and extent of the muscular lesion.

Sarcoidosis of the peripheral nerve: clinical, electrophysiological and histological study of two cases.

Two cases of sarcoid polyneuropathy were diagnosed by histological examination of the nerve biopsy. The electrophysiological findings in both patients suggested a neuropathy of axonal type, confirmed by a morphological study of a sural nerve biopsy by light microscopy and on teased-fiber preparations. The sarcoid granulomas were multiple, especially in case 2; they were sparse in the epineurial and perineurial spaces and absent in the endoneurium, whose interstitial component contained cellular infiltrations of scattered macrophages. Blood vessel changes were a constant morphological feature. The mechanisms that possibly contribute to the pathogenesis of the sarcoid neuropathy are discussed in relation to previous reports.

Why may epsilon-aminocaproic acid (EACA) induce myopathy in man? Report of a case and literature review.

A case of necrotizing myopathy due to a short epsilon-aminocaproic acid (EACA) treatment in a 72 year-old patient with subarachnoid haemorrhage (SAH) is described. Pathogenetic hypotheses are discussed.

[Licorice-induced myopathy. Report of a new case]. / Miopatia da liquerizia. Presentazione di un nuovo caso.

A 64 year-old man, who had been ingesting 20 g of licorice daily for about five months, developed a progressive, diffuse muscle weakness, with myoglobinuria, severe hypokalemia and elevated serum muscle enzymes. Electromyography and muscle biopsy results were consistent with a necrotizing myopathy. Following licorice withdrawal and appropriate electrolyte administration, complete clinical recovery was observed within about ten days. Previous reports of similar cases are reviewed and causative factors of this kind of myopathy are discussed.

Delayed cerebellar infarction following a car accident.

A patient developed a cerebellar infarction five weeks after a car accident. The pathophysiology and the medico-legal implications are discussed.

Mixed connective tissue disease (Sharp syndrome): description of two cases.

Clinical, neurophysiological, histopathological and immunohistochemical features of two cases of mixed connective tissue disease (Sharp syndrome) are reported.

Peripheral neuropathy in multiple system atrophy with autonomic failure.

Two patients with multiple system atrophy, autonomic failure, and peripheral neuropathy are reported. EMG conduction study in both muscle and sural nerve histology in one patient documented the involvement of the neuromuscular system. Morphologic study of the biopsied nerve showed marked reduction of large myelinated fibers, whereas the unmyelinated axons were totally spared. The latter finding provides evidence that the syspathetic nervous system contributes few, if any, axons to the total population of unmyelinated fibers in the human sural nerve. Peripheral nerve damage may be common in the Shy-Drager syndrome.

Conjugate gaze paresis in stroke patients with unilateral damage. An unexpected instance of hemispheric asymmetry.

Conjugate gaze paresis was investigated in 436 patients who had suffered a severe stroke and were consecutively hospitalized for unilateral hemispheric damage. Gaze paresis was found in 120 and was associated with a high mortality, severe neurological impairment, and was more frequent in women. However, conjugate gaze paresis was also dependent on the side and locus of the lesion. It was more frequent, severe, and long-lasting in patients with right-sided brain damage. Moreover, it was preponderantly associated with post-Rolandic lesions in patients with right-sided brain damage and with involvement of the entire territory of distribution of the Sylvian artery in those with left-sided brain damage. This suggests that oculomotor centers have an asymmetrical organization in the two hemispheres, diffuse on the left and focalized on the right. It also explains why visual neglect occurs more frequently following right-sided brain damage.

[Risk of cerebral infarct in young adults (author's transl)]. / Incidenza dei fattori di rischio nell'infarto cerebrale degli adulti giovani.

From 1978 to 1980, thirty-one patients aged forty years or less, had cerebral ischemic events as TIA, RIND or complete stroke. These patients have been studied, both clinically and with laboratory tests to assess the most common causes of their disorder. It was found that hypertension, excess smoking, diabetes and disorders of the lipid metabolism are the most common causes of the atherosclerosis, which plays a role in enhancing ischemic cerebro-vascular accidents during youth. The detection as well as the localization of the site of the ischemic lesions was difficult; only in six out of the seventeen patients examined it was possible to show angiographically a stenosis of one cerebral vessel. Comparison between the 31 patients and 31 subjects of the same age without clinical symptoms or neurological signs, showed a significant incidence of causes of atherosclerosis in the control subjects. In view of the limited number of controls it was not possible to predict a clearcut prognosis.

Eyelid movement disorders following unilateral hemispheric stroke.

The presence of voluntary eyelid movement disorders was systematically checked in 51 patients with a recent stroke supposedly confined to one hemisphere and presenting with contralateral gaze impairment. Inability to initiate lid closure was found in 5 patients, inability to keep the eyes closed for more than 1-3 sec in 5 patients and inability to initiate eyelid opening in 1 patient. One patient failed both to close his eyes and to open them when closed. In 3 patients the deficit was restricted to the eye contralateral to the lesion. CT scan findings pointed to the parietal lobe as the cortical area more frequently encroached upon by the lesion. In one patient brain damage was restricted to the right motor supplementary area and cingulate gyrus and produced, in addition to failure to close eyelids, inability to carry out any voluntary movement governed by cranial nerves save eye movements.

[Clinical study of disorders of eye movements (voluntary and following) after acute vascular accidents involving the cerebral hemispheres (author's transl)]. / Studio clinico sui disturbi della motilità oculare volontaria e di guida conseguente ad incidenti vascolari acuti degli emisferi cerebrali.

Voluntary eye movements and following movements have been assessed on a 3 point scale in 33 cerebrovascular patients, examined immediately after the stroke and in 52 patients examined 6-9 days after the stroke. The two types of movements were found to be impaired to the same extent in the majority of patients, especially those with severe neurological deficits. The "agreement index" between them, though high, was significantly inferior to 1. This suggests that voluntary and following movements are subserved by adjacent, but not identical neuronal structures. The available neuro-radiological evidence points to the parieto-temporal cortex as the area critically involved in eye movement disorders.