1,721,157 research outputs found
Skin and conjunctive biopsies as a useful diagnostic tool in tomaculous neuropathy
No full textIn nerve fascicles from skin and conjunctive biopsies from two siblings with hereditary chronic sensory-motor neuropathy with tomaculous changes (tomaculous neuropathy) we describe similar abnormalities to those found in sural nerve, consisting in thickenings of nerve fibres, with redundant loops of myelin and concentric apposition of enormous number of myelin lamellae. Our data demonstrate that, as previously reported in many neurometabolic or other abiotrophic diseases of the nervous system, skin and conjunctival biopsies may be a useful diagnostic tool also in this disorder, mainly when the diagnosis has to be confirmed in other family members, after one has been fully investigated by nerve biopsy, and when less invasive molecular genetic analyses on peripheral blood DNA have failed to reveal any known mutation associated with the diseas
Sensory-motor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy
No full textTwo siblings, born from a consanguineous marriage, in which tomaculous neuropathy (TN), diagnosed after nerve biopsy, presented as a chronic sensory-motor neuropathy. The clinical manifestations include also in both patients thyroid multinodular struma and in one case myopathic-like features. We believe that TN must be suspected not only in hereditary neuropathy with liability to pressure palsies, but also in any case with chronic sensory-motor neuropath
Neuromuscular findings in eight Italian families with neuroacanthocytosis
No full textWe report the muscle and peripheral nerve biopsy findings in a series of Italian patients with McLeod syndrome and chorea-acanthocytosis (ChAc). Myopathy was the prominent feature in McLeod syndrome, with central nucleation and necrotic fibers as the more constant findings. Occasionally mitochondrial changes, as a secondary phenomenon, were observed. Nerve pathology mostly consisted in myelinic lesions, such as thin myelin sheaths and onion bulb formations. In ChAc patients, peripheral nerve biopsy showed loss of large myelinated fibers, axonal degeneration and axoplasmic accumulation of membranolamellar profiles. These findings were indicative of a distal axonopathy. Muscle pathology in ChAc mainly showed neurogenic atrophy. In both diseases, the pathological process underlying the neuromuscular involvement remains to be determined
Acanthocytes in pantothenate kinase associated neurodegeneration
No full textHallervorden-Spatz syndrome (HSS) and HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) were shown to be due to mutations in the gene for pantothenate kinase 2 (PANK2). It was suggested that this group of disorders should now be referred to as pantothenate kinase associated neurodegeneration (PKAN). PANK2 is a key regulatory enzyme in the biosynthesis of coenzyme A, which in turn is pivotal in phospholipid biosynthesis and membranogenesis. Thus, defective membrane repair may be the molecular basis for acanthocyte formation in PKAN.
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La patologia della sostanza bianca alla RM osservata da un clinico.
No full textLa patologia della sostanza bianca alla RM osservata da un clinic
Peripheral nerve involvement in ataxia telangiectasia: histological and ultrastructural studies of peroneal nerve biopsy in two cases
No full textThe authors report a histological and electron-microscopic study of the peripheral nerve in two cases of ataxia-telangiectasia showing fiber loss, storage material in Schwann cells and nuclear changes. Nuclear changes are the most typical finding and are correlated with the primary metabolic disorder of DNA repair
Retinocytoma associated with calcified vitreous deposits
No full textPURPOSE. To report a case of bilateral retinocytoma associated with calcified vitreous deposits. METHODS. Case report. RESULTS. On routine examination, a 35-year-old asymptomatic father of a child with bilateral retinoblastoma presented bilateral retinocytoma associated with vitreous calcifications, in the vicinity of the retinocytoma in his left eye. Fundus photographic documentation and fluorescein angiography were performed. The patient has been followed up for 10 years. CONCLUSIONS. The lesions in both eyes have remained stable without signs of growth or malignant transformation. Calcified vitreous deposits are a recently described feature of retinocytoma in addition to the three classic features: translucent retinal mass, retinal pigment epithelial alteration, and calcificatio
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease
No full textThe authors report an association between acute inflammatory neuropathy and previously undiagnosed Charcot-Marie-Tooth 1A disease in a 15-year-old girl. Sural nerve biopsy study showed hypertrophic neuropathy with endoneurial infiltrates of macrophages and lymphocytes. This association may be coincidental, but a particular susceptibility to damage of these peripheral nerves cannot be excluded. This report confirms the importance of pes cavus as a sign of long-standing sensorimotor neuropathy
Association of myopathy with multiple exostoses and mental retardation: a case report
No full textWe report an 18-year-old male with multiple exostoses, dysmorphic features, mental retardation and myopathy. The case is discussed in the light of previously reported disorders in which multiple exostoses are associated with neurological impairment
Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study
No full textAmiodarone is effective in the treatment of supraventricular and ventricular cardiac arrhythmia, however a high incidence of toxic side effects has been observed in various organs and tissues during chronic treatment. Ultrastructural observation of affected tissues reveals myelinoid inclusion bodies. The exact pathogenetic mechanism of these changes is still unknown. In this study we investigated the biochemical effects of this drug on lysosomal hydrolases and the alterations induced in subcellular organelles of fibroblasts cultured for 24 h with different concentrations of amiodarone in the medium. Of the enzyme activities assayed, we only observed a significant reduction in sphingomyelinase. Ultrastructural observation of fibroblasts showed swollen lysosomes and a few onionoid inclusion bodies at lower concentrations of the drug; at higher concentrations the lysosomal system was severely impaired. Cytochemical staining of unesterified cholesterol with filipin showed accumulation of cholesterol. We conclude that chronic amiodarone treatment in experimental conditions induces inhibition in sphingomyelinase activity through interaction with membrane lipids and modification of bilayer structure. Higher concentrations of the drug impair cholesterol transport and induce lipid accumulation. These results may be useful for understanding the pathogenesis of induced lipidosis in patients in chronic treatment with amiodarone
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