A 47-year-old man had suffered oscillopsia associated with palatal myoclonus for 10 years. High-field magnetic resonance imaging (MRI) revealed a cryptic vascular malformation within the "Guillain-Mollaret triangle" which was thought to be the responsible lesion.
Brain Stem/*abnormalities/pathology ; Humans ; *Magnetic Resonance Imaging ; Male ; Middle Aged ; Myoclonus/*etiology

Brain ; abnormalities ; pathology ; surgery ; Child, Preschool ; Epilepsy ; etiology ; Humans ; Magnetic Resonance Imaging ; Male

The CT and MRI manifestations of pachygyria and agyria are presented with a review of the pathological features of the disorders and an evaluation of the diagnostic value of both imaging modalities. 15 cases were analysed retrospectively; of them, 12 were examined with CT and 3 with MRI. The analyses confirm 7 cases with agyria, 5 with pachygyria of bilateral cerebral hemisphere and 3 with limited pachygyria of unilateral hemisphere. On CT and MRI of the whole lesions, the cortex is thickened and the white matter is reduced in proportion. The surface of the brain remains flat and smooth or shows only a few broad gyri and shallow sulci. The border between gray and white matter is smooth. In 12 patients with agyria and pachygyria of the whole brain, the sylvian fissures are shallow, and insulae are exposed. The middle cerebral arteries course superficially along sylvian grooves close to the inner table of the skull. The cerebral contour is "hourglass" or "figure of eight". Associated brain anomalies include the heterotopia of gray matter in 5 cases, the schizencephaly (type I) in 2 cases and the agenesis of the corpus callosum in one case. In conclusion, the pathological changes of pachygyria and agyria are characteristics. CT and MRI are excellent modalities to evaluate these pathological features.
Adolescent ; Adult ; Brain ; abnormalities ; diagnostic imaging ; pathology ; Cerebral Cortex ; abnormalities ; diagnostic imaging ; pathology ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Tomography, X-Ray Computed

Individuals at ultra-high-risk (UHR) for psychosis have become a major focus for research designed to explore markers for early detection of and clinical intervention in schizophrenia. In particular, structural magnetic resonance imaging studies in UHR individuals have provided important insight into the neurobiological basis of psychosis and have shown the brain changes associated with clinical risk factors. In this review, we describe the structural brain abnormalities in magnetic resonance images in UHR individuals. The current accumulated data demonstrate that abnormalities in the prefrontal and temporal cortex and anterior cingulate cortex occur before illness onset. These regions are compatible with the regions of structural deficits found in schizophrenia and first-episode patients. In addition, the burgeoning evidence suggests that such structural abnormalities are potential markers for the transition to psychosis. However, most findings to date are limited because they are from cross-sectional rather than longitudinal studies. Recently, researchers have emphasized neurodevelopmental considerations with respect to brain structural alterations in UHR individuals. Future studies should be conducted to characterize the differences in the brain developmental trajectory between UHR individuals and healthy controls using a longitudinal design. These new studies should contribute to early detection and management as well as provide more predictive markers of later psychosis.
Brain/abnormalities/*pathology ; Gyrus Cinguli/pathology ; Humans ; Longitudinal Studies ; *Magnetic Resonance Imaging ; Predictive Value of Tests ; Psychotic Disorders/diagnosis/*pathology ; Risk Factors ; Temporal Lobe/pathology

We performed an immunohistochemical study on the estrogen receptor alpha (ER-alpha) distribution in the cerebellum of a human neonate with multiple congenital anomalies, that had been acquired during autopsy. Although the exact pathology in the brain was not clearly elucidated in this study, an unidentified stressful condition might have induced the astrocytes into reactive states. In this immunohistochemical study on the neonatal cerebellum with multiple congenital anomalies, intense ER-alpha immunoreactivities (IRs) were localized mainly within the white matter even though ER-alpha IRs were known to be mainly localized in neurons. Double immunohistochemical staining showed that ER-alpha IR cells were reactive astrocytes, but not neurons. Interestingly, there were differences in the process length among the reactive astrocytes showing ER-alpha IRs. Our quantitative data confirmed that among the glial fibrillary acidic protein (GFAP)-expressing reactive astrocytes, the cells exhibiting intense ER-alpha IRs have much longer cytoplasmic processes and relatively weaker GFAP IRs. Taken together, the elongated processes of reactive astrocytes might be due to decreased expression of GFAP, which might be induced by elevated expression of ER-alpha even though the elucidation of the exact mechanism needs further studies.
Abnormalities, Multiple/*pathology ; Astrocytes/*metabolism ; Autopsy ; Brain/pathology ; Cerebellum/*metabolism ; Cytoplasm/metabolism ; Estrogen Receptor alpha/*metabolism ; Female ; Gastrointestinal Diseases/congenital/*pathology ; *Gene Expression Regulation ; Glial Fibrillary Acidic Protein/metabolism ; Humans ; Immunohistochemistry/methods ; Infant, Newborn ; Urogenital Abnormalities/*pathology

OBJECTIVETo explore the role of genetic factors in the brain structural variation by using magnetic resonance imaging scan in schizophrenic patients and their unaffected siblings, and to provide experimental evidence for identifying endophenotype of schizophrenia.

METHODSThe optimized voxel-based morphometry (OVBM) was used to process the brain magnetic resonance images in 15 first episode drug-naive schizophrenic patients, 19 unaffected siblings of the patients and 38 normal control subjects. The data were analyzed by using general linear model.

RESULTSCompared to the normal control subjects, significant decreases of gray matter was observed in first episode drug-naive schizophrenia in bilateral temporal lobe, bilateral occipital lobe, left insula, left frontal lobe superior frontal gyrus and right lentiform nucleus medial globus pallidus. Significant increases of gray matter in bilateral parietal lobe, bilateral limbic lobe cingulate gyrus in patients group while compared to controls were also found. In unaffected siblings, significant decreases of gray matter was observed in the right temporal lobe, bilateral occipital lobe, left insula, and left frontal lobe precentral gyrus, and significant increases of gray matter were found in left parietal lobe and bilateral cerebellum posterior lobe. Increased gray matter in left parietal lobe precuneus was found in first episode drug-naive schizophrenia when compared with their unaffected siblings.

CONCLUSIONThere were similar brain structure abnormalities between the first episode drug-naive schizophrenia and their unaffected siblings. Genetic factor may play important role in brain structural abnormality in schizophrenia, which suggested that the brain structural change might be a genetic endophenotype of schizophrenia.

Adult ; Brain ; abnormalities ; diagnostic imaging ; Case-Control Studies ; Humans ; Magnetic Resonance Imaging ; Male ; Radiography ; Schizophrenia ; diagnostic imaging ; genetics ; pathology

OBJECTIVENeuronal migration disorders (NMD) are a group of malformations of the brain which ultimately disrupt migrating neuroblasts from the germinal plate to the cerebral cortex, it consists of agyria-pachygyria, polymicrogyria, schizencephaly, hemimegalencephaly and heterotopia. This study aimed to investigate the clinical characteristics and diagnostic methods of NMD.

METHODSThe clinical data, cranial imaging and experimental examinations of 37 patients with NMD were analyzed. The patients consisted of 21 males and 16 females whose age of first hospital visit ranged from 2 months to 14 years and 6 months. Among the 37 cases, 18 were followed up.

RESULTSOf the 37 patients, 21 were agyria-pachygyria, the main clinical manifestations were mental retardation (20 cases), epilepsy (14 cases), hemiparesis (6 cases), and 17 patients had microcephaly which was an important physical sign. Eight patients had agyria-pachygyria with other malformations, they presented mental retardation (6 cases), epilepsy (4 cases), and hemiparesis (2 cases). Of the 5 patients with heterotopia, 4 manifested epilepsy. 3 patients had schizencephaly and 2 presented with hemiparesis. EEG was performed in 16 cases. Generalized irregular sharp and slow wave complexes were present in 10 cases, focal spike and slow complex in one case, hypsarrhythmia in one case, and the normal EEG in 4 cases. Eighteen cases were followed-up from seven months to eight years and three months, 14 patients had epilepsy, and still had epileptic attacks with the treatment with anticonvulsives, motor development was improved but speech development delayed in 4 cases.

CONCLUSIONThe results of this study suggest that NMD is characterized by mental retardation, epilepsy and hemiparesis. Cranial MRI is the best diagnostic method.

Adolescent ; Brain ; abnormalities ; Cell Movement ; Child ; Child, Preschool ; Electroencephalography ; Female ; Humans ; Infant ; Intelligence ; Magnetic Resonance Imaging ; Male ; Neurons ; pathology ; physiology

PURPOSE: To investigate the general characteristics of glucose metabolism distribution and the functional deficit in the brain of children with developmental language delay (DLD), we compared functional neuroradiological studies such as positron emission tomography (PET) of a patient group of DLD children and a control group of attention- deficit hyperactivity disorder (ADHD) children. PATIENTS AND METHODS: Seventeen DLD children and 10 ADHD children under 10 years of age were recruited and divided into separate groups consisting of children less than 5 years of age or between 5 and 10 years of age. The PET findings of 4 DLD children and 6 control children whose ages ranged from 5 to 10 years were compared by Statistical Parametric Mapping (SPM) analysis. RESULTS: All of the DLD children revealed grossly normal findings in brain MRIs, however, 87.5% of them showed grossly abnormal findings in their PET studies. Abnormal findings were most frequent in the thalamus. The patient group showed significantly decreased glucose metabolism in both frontal, temporal and right parietal areas (p < 0.005) and significantly increased metabolism in both occipital areas (p < 0.05) as compared to the control group. CONCLUSION: This study reveals that DLD children may show abnormal findings on functional neuroradiological studies, even though structural neuroradiological studies such as a brain MRI do not show any abnormal findings. Frequent abnormal findings on functional neuroradiological studies of DLD children, especially in the subcortical area, suggests that further research with quantitative assessments of functional neuroradiological studies recruiting more DLD children and age-matched normal controls could be helpful for understanding the pathophysiology of DLD and other disorders confined to the developmental disorder spectrum.
Attention Deficit Disorder with Hyperactivity/metabolism/*pathology ; Basal Ganglia/abnormalities/metabolism/radionuclide imaging ; Brain/*abnormalities/metabolism/radionuclide imaging ; Caudate Nucleus/abnormalities/metabolism/radionuclide imaging ; Cerebellum/abnormalities/metabolism/radionuclide imaging ; Child ; Child, Preschool ; Glucose/metabolism ; Humans ; Language Development Disorders/metabolism/*pathology ; Magnetic Resonance Imaging ; Positron-Emission Tomography ; Thalamus/abnormalities/metabolism/radionuclide imaging

Adolescent ; Adult ; Brain ; abnormalities ; pathology ; physiopathology ; Child ; Female ; Humans ; Image Processing, Computer-Assisted ; Male ; Nerve Net ; pathology ; physiopathology ; Schizophrenia ; etiology ; physiopathology ; Schizophrenic Psychology

Abnormalities, Multiple ; diagnosis ; genetics ; pathology ; Brain ; diagnostic imaging ; pathology ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Optic Atrophies, Hereditary ; diagnostic imaging ; pathology ; Radiography ; Septo-Optic Dysplasia ; diagnosis ; genetics ; pathology ; Septum Pellucidum ; diagnostic imaging ; pathology