RESUMO
Three adult patients with mitochondrial disease underwent clinical-morphological studies which demonstrated a diffuse and marked defect in mitochondria. The characteristic clinical picture of "ophthalmoplegia plus", a slow progression of the disease, the quantitative and structural changes in the mitochondria of muscle fibers justified the diagnosis of mitochondrial disease.
Assuntos
Mitocôndrias Musculares/ultraestrutura , Oftalmoplegia/patologia , Adolescente , Adulto , Metabolismo Energético , Feminino , Humanos , Masculino , Microscopia Eletrônica , Mitocôndrias Musculares/metabolismo , Oftalmoplegia/diagnóstico , Oftalmoplegia/genética , SíndromeRESUMO
The presented description of two cases of sporadic distal myopathy represents the first report on this disease published in the national literature. The clinical picture of the disease was consistent with that of five patients with this disease entity described in the world literature and was characterized by the disease onset in young age expressed in the form of distal muscular atrophies, a dramatic increase in the activity of serum creatine kinase, with electromyographic, histologic and electron microscopic findings indicating the presence of the myopathic process. A differential diagnosis from other diseases manifesting themselves in distal muscular atrophies is also outlined.
Assuntos
Atrofia Muscular/diagnóstico , Adolescente , Adulto , Biópsia , Doença de Charcot-Marie-Tooth/diagnóstico , Ensaios Enzimáticos Clínicos , Creatina Quinase/sangue , Diagnóstico Diferencial , Eletromiografia , Feminino , Humanos , Masculino , Músculos/patologia , Atrofia Muscular/patologia , NecroseRESUMO
Two cases of ophthalmoplegia-plus are described for the first time in the national literature. The clinical picture of both patients aged 7 and 15 years exhibited a characteristic triad: external ophthalmoplegia, retinitis pigmentosa and heart conduction impairments. In one patient, this triad was supplemented by neurosensory deafness, torsion dystonia and the myopathic syndrome, and in the other one, by ichthyosis, cerebellar symptomatology, the myopathic syndrome and a marked elevation of protein in the cerebrospinal fluid. In both patients, the diagnosis was supported by electron microscopic studies of a muscular biopsy-specimen which disclosed pronounced changes in the number, structure, size and form of mitochondria as well as the presence of glycogen and lipid drops accumulating near mitochondria.
Assuntos
Arritmias Cardíacas/diagnóstico , Oftalmoplegia/diagnóstico , Retinose Pigmentar/diagnóstico , Abetalipoproteinemia/diagnóstico , Adolescente , Criança , Feminino , Glicogênio/metabolismo , Humanos , Metabolismo dos Lipídeos , Mitocôndrias Musculares/ultraestrutura , Músculos/metabolismo , Músculos/patologia , SíndromeRESUMO
Data of the clinical and laboratory examinations of 6 children (4 girls and 2 boys) with the syndrome of rigid vertebral column are presented. In half of them the syndrome appeared to be of family character. An analysis of the family history data pointed to the recessive type of the syndrome inheritance. The disease manifested itself in an impairment of the axial muscles (because of which the flexion of the neck and the trunk got sharply limited), a slight myopathic syndrome, scoliosis and cardiomyopathy. Histochemical examinations of biopsy specimens taken from the affected muscles showed prevalence of type I fibres and proliferation of the connective tissue. The data obtained were compared with those described in literature earlier, as well as with those obtained from patients with clinically similar forms, e. g. Rotauf's myodystrophy and multipivotal myopathy.
Assuntos
Cardiomiopatias/diagnóstico , Doenças Musculares/diagnóstico , Escoliose/diagnóstico , Adolescente , Dorso , Cardiomiopatias/genética , Criança , Creatina Quinase/sangue , Eletromiografia , Feminino , Humanos , Masculino , Doenças Musculares/genética , Escoliose/genética , SíndromeRESUMO
Recommendations for histological criteria of diagnosis of dystrophic and congenital myotony as well as familial hypopotassemic periodic paralysis based on the results of skeletal muscles biopsies are presented.
Assuntos
Músculos/patologia , Distrofias Musculares/patologia , Miotonia Congênita/patologia , Paralisias Periódicas Familiares/patologia , Diagnóstico DiferencialRESUMO
Data of a clinico-morphological examination of 4 patients with the ophthalmoplegic form of myopathy are presented. An electronmicroscopic examination has made it possible to disclose the primary morphological defect in the mitochondria of the patients' muscles. The mitochondrial pathology manifested itself in an increase of the number of these organelles, changes of their shape and size, structural abnormalities and presence of inclusions. The pathology of the mitochondria in muscular fibres with normal structure of the latter's contractile apparatus, gradual destruction of the mitochondria, and deepening of the destructive changes in the mitochondria in parallel to the lysis of the myofibrillary apparatus give one grounds to speak about the primary character of the mitochondrial pathology in those patients, and to regard this disease as a variant of mitochondrial myopathies.
Assuntos
Músculos/patologia , Oftalmoplegia/patologia , Adulto , Atrofia , Feminino , Glicogênio/metabolismo , Histocitoquímica , Humanos , Metabolismo dos Lipídeos , Masculino , Mitocôndrias Musculares/ultraestrutura , Músculos/metabolismo , Músculos/ultraestrutura , Miofibrilas/ultraestrutura , Oftalmoplegia/metabolismo , SíndromeRESUMO
The paper offers recommendations concerning the specificity of biopsies withdrawn from skeletal muscles and histologic criteria for diagnosis of various forms of neurogenic atrophies, injuries, myositis, and myasthenia gravis.
Assuntos
Músculos/patologia , Doenças Neuromusculares/patologia , Adolescente , Adulto , Esclerose Lateral Amiotrófica/patologia , Criança , Dermatomiosite/patologia , Humanos , Atrofia Muscular/patologia , Miastenia Gravis/patologiaAssuntos
Músculos/patologia , Doenças Musculares/genética , Adolescente , Adulto , Alanina Transaminase/sangue , Aspartato Aminotransferases/sangue , Criança , Creatina Quinase/sangue , Eletromiografia , Feminino , Frutose-Bifosfato Aldolase/sangue , Humanos , L-Lactato Desidrogenase/sangue , Masculino , Músculos/enzimologia , Doenças Musculares/diagnóstico , Doenças Musculares/patologia , Oxirredutases/metabolismo , Linhagem , Aberrações dos Cromossomos Sexuais , Cromossomo XRESUMO
Among 50 patients who suffered from chronic renal insufficiency and who were on a chronic hemodialysis, 25 demonstrated uremic polyneuropathy with a different degree of expressiveness which depended upon the duration azotemia. A histological study of 13 postmortem cases detected a microfocal demyelinization in the peripheral nerves, and in cases of expressed pathology there were changes in the axon cast of the peripheral nerves and neurogenic muscular atrophy. There were no direct correlations between the development of polyneuropathy and the amount of hemodialysis sessions.
Assuntos
Falência Renal Crônica/complicações , Músculos/patologia , Nervos Periféricos/patologia , Doenças do Sistema Nervoso Periférico/etiologia , Adulto , Humanos , Falência Renal Crônica/patologia , Falência Renal Crônica/terapia , Masculino , Doenças do Sistema Nervoso Periférico/patologia , Diálise RenalRESUMO
The authors conducted a clinico-neurological examination of 16 patients with a muscular syndrome which developed against the background of chronic polymyositis. The muscular bioptate demonstrated a combination of atrophical, dystrophical and necrobiotical processes. The prevalent atrophical processes had the character of denervational atrophy.