RESUMO
A term infant, observed at birth to be microcephalic, developed status epilepticus and died 36 hours later. At autopsy a markedly atrophic brain was found which, by microscopic examination, demonstrated changes consistent with neuronal ceroid-lipofuscinosis. Cerebral lipidosis with microcephaly presenting at birth is extremely rare. Congenital neuronal ceroid-lipofuscinosis is an atypical form of ceroid-lipofuscinosis and should be considered in the differential diagnosis of the microcephalic neonate with seizures.
Assuntos
Encéfalo/patologia , Lipofuscinoses Ceroides Neuronais/patologia , Astrócitos/patologia , Atrofia , Córtex Cerebral/patologia , Diagnóstico Diferencial , Gliose/patologia , Humanos , Recém-Nascido , Metabolismo dos Lipídeos , Lipofuscina/metabolismo , Macrófagos/patologia , Masculino , Microscopia Eletrônica , Microscopia de Fluorescência , Exame Neurológico , Lipofuscinoses Ceroides Neuronais/diagnóstico , Neurônios/patologia , Espasmos Infantis/patologiaRESUMO
A metastatic malignant schwannoma diagnosed by fine needle aspiration (FNA) biopsy in a 56-year-old man is reported. Cytologic examination of smears and cell blocks prepared from aspirates of a vertebral mass suggested the presence of metastases from a previously excised malignant schwannoma on the right leg. Electron microscopic and immunocytochemical studies on the aspirate supported the diagnosis, as did the patient's clinical history and previous pathology and the radiographic demonstration of metastatic lesions in the lung. The cytologic findings (cells with oval-to-spindled nuclei and ill-defined cellular borders suspended within a delicately fibrillar eosinophilic matrix) are discussed in light of the histologic diversity of this lesion and the problems of distinguishing it from other sarcomas. The ability to diagnose metastatic malignant schwannoma by FNA emphasizes the value of this technique.
Assuntos
Neurilemoma/secundário , Biópsia por Agulha , Humanos , Perna (Membro) , Masculino , Pessoa de Meia-Idade , Neurilemoma/diagnóstico , Neurilemoma/patologia , Vértebras TorácicasAssuntos
Doenças do Sistema Nervoso Periférico/induzido quimicamente , Tálio/intoxicação , Administração Oral , Ferrocianetos/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso Periférico/tratamento farmacológico , Doenças do Sistema Nervoso Periférico/metabolismo , Doenças do Sistema Nervoso Periférico/patologia , Tálio/metabolismoRESUMO
Three patients, all of whom presented with orofacial pain, were initially diagnosed as having temporomandibular dysfunction. Subsequent muscle biopsies proved they had an underlying pathologic abnormality. It is not inconceivable that a number of patients who present with facial pain, whether or not they respond to traditional therapeutic modalities, have an underlying systemic myopathy. The myopathy may be hereditary and the mode of inheritance may be unusual. Practitioners who treat patients with facial pain are cautioned to be aware of this possibility. Mitochondrial myopathy is probably one of a series of pathologic abnormalities that may be present.
