ABSTRACT
Two siblings with Lafora disease (LD) are described: one with epilepsy, myoclonus, EEG abnormalities, severe dementia and many Lafora bodies (LBs) in muscle and skin tissue; the other with myoclonus, epilepsy, EEG abnormalities and LBs in muscle and in skin tissue, without dementia. The findings suggest that the diagnosis of LD by skin and muscular biopsy is possible in the early stage of the disease, when there are myoclonic epilepsy and EEG abnormalities, before the onset of dementia.
Subject(s)
Epilepsies, Myoclonic/pathology , Muscular Diseases/pathology , Skin Diseases/pathology , Adolescent , Biopsy , Child , Electroencephalography , Epilepsies, Myoclonic/physiopathology , Family , Female , Humans , Inclusion Bodies/ultrastructure , Intelligence Tests , Male , Neurologic Examination , Sleep/physiology , Sleep, REM/physiology , Sural Nerve/pathologyABSTRACT
In patients with cervical carcinoma the selection of the optimal therapy depends on the precise preoperative assessment of the extent of disease. Currently, decisions regarding the management of these patients are made on the basis of clinical (FIGO) staging that has 50% mean error rate. To investigate the value of MR imaging in staging patients with invasive cervical cancer, we performed 25 MR examinations on 23 patients with histologic diagnosis of cervical cancer. All patients were clinically considered as having stage IB or IIB disease and underwent radical hysterectomy, providing specimens for pathologic correlation. The overall accuracy of MR imaging in staging cervical carcinoma (stage IB-IIB) was 78.1%. MR imaging seems to be the most reliable preoperative modality for staging invasive cervical cancer.
Subject(s)
Magnetic Resonance Imaging , Uterine Cervical Neoplasms/pathology , Adult , Aged , Female , Humans , Middle Aged , Neoplasm Invasiveness , Neoplasm Staging/methods , Predictive Value of Tests , Prospective StudiesABSTRACT
We describe the clinical and neuropathologic features of a patient complaining of increased intracranial pressure lasting over two years. Brain CT showed three cystic lesions in the supratentorial regions. Autopsy disclosed multiple small glio vascular abnormalities, in some instances connected with a cystic cavity. The lesions were scattered throughout the white matter of both cerebral hemispheres and suggested a complex dysplasia.
Subject(s)
Brain Neoplasms/pathology , Glioma/pathology , Hemangioma/pathology , Neoplasms, Multiple Primary/pathology , Biopsy , Calcinosis/pathology , Capillaries/pathology , Cysts/pathology , Frontal Lobe/pathology , Humans , Immunoenzyme Techniques , Male , Middle Aged , Parietal Lobe/pathology , Stereotaxic TechniquesABSTRACT
Thirty-three patients with histological diagnosis of endometrial carcinoma were studied with MR imaging at 1.5 T. All patients were clinically diagnosed as having stage I or II disease (FIGO) and underwent abdominal hysterectomy. MR tissue characteristics and morphological features were compared with morphological features were compared with microscopic pathological findings, in all patients. The following initials were adopted for statistical comparison: M0 = tumor confined to endometrium; M1 = infiltration of the inner third of myometrium; M2 = invasion of the central third of myometrium; M3 = infiltration of the outer third of myometrium. T1-weighted (SE 600/30) and T2-weighted (SE 2000/35.90) (SE 1500/28.60) images were obtained in sagittal plane (section thickness = mm 4). Overall MR accuracy in determining the extent of myometrial invasion was 78%. Correct evaluation of myometrial invasion is essential in patients with stage I or II endometrial carcinoma who are to undergo transvaginal hysterectomy without lymphadenectomy (M0, M1).