Adel K. Afifi

The myopathology of the Prune belly syndrome.

Abstract The Prune Belly Syndrome or Triad Syndrome is a rare disorder characterized by hypoplasia or aplasia of abdominal musculature, urogenital anomalies and undescended testicles. The majority of the reported cases are males. A female case of the mild variant of this syndrome is presented. The light and electron microscopic changes in the voluntary muscles are described. They consisted of variations in fibre size, fibre necrosis, an increase in sarcolemmal nuclei, the presence of capillaries within muscle fibres, excessive collagen accumulation, Z-line abnormalities, sarcoplasmic reticulum dilatation and myofilamentous disarray and loss. We propose the hypothesis that a genetically-determined or congenital type of myopathy may be the basis of this syndrome.

Clofibrate-induced muscular syndrome. Report of a case with clinical, electromyographic and pathologic observations.

In this report the clinical features of a case of clofibrate-induced muscular syndrome, as well as the electromyographic, histochemical, light- and electron-microscopic findings are described. The clinical features are similar to those of previously reported cases. Electromyography was consistent with a myopathy. Histochemical profile was normal. The myopathology included breakdown of contractile material, deranged mitochondria, dilated sarcoplasmic reticulum profiles, accumulation of membrane bound dense bodies, discontinuities in sarcolemma and thickening of capillary basement membrane. Macrophages invaded severely affected fibers.

PRIMARY LOCALIZED MACULAR, CUTANEOUS AMYLOIDOSIS: HISTOCHEMISTHY AND ELECTRON MICROSCOPY

SUMMARY.— Six cases of macular cutaneous amyloidosis are reported. The dermatosis has been defined clinically, histologically, histochemically and ultrastructurally. It, like lichen amyloidosus, is a form of primary localized cutaneous amyloidosis. This variety occurs mainly in females and predominantly as pruritic plaques on the back, which are hyperpigmented, reticulated, macular, occasionally finely papular. The disorder enjoys a world‐wide distribution.

ULTRASTRUCTURAL ALTERATIONS IN MUSCLE FROM PATIENTS WITH MYASTHENIA GRAVIS AND EATON-LAMBERT SYNDROME

Electron microscopic studies of muscle from patients with myasthenia gravis and Eaton-Lambert syndrome have not been undertaken despite numerous indications from the light microscopic literature and from reviews.l-16 Since the motor end plate is of primary interest in these disorders, the attention of electron microscopists has focused on this region as it relates to myasthenia g r a v i ~ . ~ ~ ~ ~ Although these studies are valuable, they are so narrowly focused that they fail to provide an overview of each of the functionally-linked component parts of the neuromuscular system. The present study is of three patients with myasthenia gravis and of one patient with the Eaton-Lambert syndrome. It is the purpose of this paper to describe and demonstrate the structural alterations in muscle in these disorders. By routine light microscopy, the muscles from these patients had been reported to be essentially normal.

Concentrically laminated membranous inclusions in myofibres of Dyggve-Melchior-Clausen syndrome

Abstract Concentrically-laminated membranous inclusions reported only once previously, are described in muscle from a patient with the Dyggve-Melchior-Clausen syndrome. They exhibit a banding pattern and are characteristically located in subsarcolemmal sites. They may represent a non-specific myopathological reaction.

Partial (localized) lipodystrophy: Report of a case with muscle and skin abnormalities

The light and electron microscopic myopathologic and dermatopathologic features in one patient with the partial (localized) type of lipodystrophy are described. The myopathologic changes involve both the contractile elements and the intracellular organelles, especially mitochondria that show hyperplasia and structural alterations of cristae. The dermatopathologic changes consist of a reduction in subcutaneous fat, intercellular edema, and the presence of intracytoplasmic lipid droplets. This is the first report in the literature in which the myopathologic features and detailed electron microscopy of skin in this condition are described. The myopathologic features of partial lipodystrophy are compared with those of congenital generalized lipodystrophy. It is proposed that a myopathy may be one of the manifestations of partial lipodystrophy.

Clofibrate-Induced Myotoxicity in Rats

In this report, the temporal sequence of myopathology during a clofibrate-induced muscular syndrome and its recovery in rats is described using histopathologic, histochemical and electron microscopic technics. Two stages of myopathology are described: an early stage characterized by myopathic features, and a later stage characterized by neurogenic features. Although muscle histology returns to normal after 1 week of discontinuing the drug, electron microscopic abnormalities persist through the second week. It is proposed that clofibrate, in addition to its myotoxic effect, may be neurotoxic.

Muscular abnormality in xeroderma pigmentosum ☆: High resolution light-microscopy and electron-microscopic observations

Abstract Two cases of xeroderma pigmentosum and 1 case of the De Sanctis-Cacchione syndrome are presented. Muscle biopsies from all 3 patients showed identical alterations in 1 μ and 600 A thin sections. The alterations consisted of massive accumulation of glycogen and subsarcolemmal mitochondrial aggregates. No similar lesion in muscle from xeroderma pigmentosum or the De Sanctis-Cacchione syndrome has been reported. A common aetiological mechanism is postulated for the muscle and skin lesions.

The myopathic variety of arthrogryposis multiplex congenita: A disorder with autosomal recessive inheritance

Two infants affected with the myopathic type of arthrogryposis multiplex congenita were studied. The muscle biopsies revealed similar light and electron microscopic changes in both patients, consisting of massive glycogen accumulation, disarray of myofilaments, and changes in mitochondria. All four parents of the two children are related to each other. Thus we propose that the myopathic type of arthrogryposis multiplex congenita is a specific genetic disease caused by a single gene and follows the autosomal recessive pattern of inheritance.

Neurogenic muscular atrophy in Behcet's disease

SummaryA child is reported with Behcets disease who presented with skin and joint manifestations, oral ulcers, brainstem syndrome and neurogenic muscular atrophy. The neurogenic muscular atrophy was confirmed by electrophysiologic, histologic and histochemical studies. Electron microscopy of muscle showed a vasculopathy. The possible etiology of the muscle lesions is discussed. The relevant literature on muscle and peripheral nerve involvement in Behcets disease is reviewed. It is proposed that neuromyopathy be added to the neurological manifestations of Behcets disease. To our knowledge, this is the first case of neurogenic atrophy reported in Behcets disease.