胼胝体梗死:临床与影像学特征

目的 探讨胼胝体梗死患者的临床和影像学特征.方法 回顾性收集经颅脑MRI证实的胼胝体梗死患者,对其临床表现和影像学资料进行分析.结果 胼胝体梗死占所有脑梗死患者的1.04％(7/671),其主要危险因素是高血压、冠心病和糖尿病.典型表现包括观念运动性失用(42.9％)、额叶步态(28.6％)和异己手综合征(14.3％),可伴有肢体瘫痪、意识障碍和认知损害等症状.MRI共检出胼胝体病灶8个,以体部多见(62.5％),其次为压部(25.0％)和膝部(1/8,12.5％).额叶(57.1％)、基底节区(42.9％)和枕叶(42.9％)常同时被累及.弥散张量成像显示,l例患者胼胝体体部和膝部纤维连接中断.6例患者血管造影显示血管狭窄或闭塞,其中以椎动脉狭窄最多见(66.7％),其次为大脑前动脉(50.0％),颈总动脉、颈内动脉和大脑中动脉较少见(均为33.3％).结论 胼胝体梗死发生率低,动脉粥样硬化是致病关键,其临床表现多样,与梗死部位有关.     

Corpus callosum, pons, and cortical white matter in alcoholic women

BACKGROUND: To measure the effect of alcohol abuse on white matter brain macrostructure in women with alcoholism and to determine whether observed abnormalities interact with age. METHODS: Quantitative measures of corpus callosum area, cortical white matter volume, and pons volume were derived from magnetic resonance imaging scans obtained from 34 women with DSM-III-R alcoholism (aged 28-64, mean 41 years) and 35 healthy women (aged 22-65, mean 42 years). Transverse relaxation time of the pons was also obtained. RESULTS: No significant group differences in any brain measures were observed. However, in alcoholics greater length of sobriety was associated with more cortical white matter, and higher lifetime levels of alcohol consumption were associated with smaller volumes and prolonged transverse relaxation time in the pons. CONCLUSIONS: Despite a lack of overall deficits in white matter macrostructural size in alcoholic women, certain white matter structures showed alcohol exposure vulnerability whereas others showed evidence of recovery with abstinence.     

EARS2 mutations cause fatal neonatal lactic acidosis,recurrent hypoglycemia and agenesis of corpus callosum

Metabolic Brain Disease - Mitochondrial aminoacyl tRNA synthetases are essential for organelle protein synthesis. Genetic defects affecting the function of these enzymes may cause pediatric...     

The prognosis of agenesis of the corpus callosum might mostly be favourable

The post-natal development of 6 patients with complete agenesis of the corpus callosum was assessed. The diagnosis of agenesis of the corpus callosum had been suspected prenatally in 3 cases. In the remaining 3 cases diagnostic neuro-imaging was performed because of partial seizures (n = 2) and pendular nystagmus (n = 1). The neurological examination was normal in all patients with the exception of nystagmus in one. The neuro-developmental outcome was found to be normal in all 6 patients. In conclusion, these data suggest that good outcome is predominant in agenesis of the corpus callosum.     

Pulmonary alveolar microlithiasis in 2 brothers

Pulmonary alveolar microlithiasis is a rare disease of unknown cause and pathogenesis, where the pathological substrate is composed of calcium microconcrements inside the alveoli. The lungs are endured with deterioration of respiratory mechanics, ventilation and perfusion disorders and finally pulmonary hypertension and chronic cor pulmonale. The disease follows a slow course extending approximately over 20 years. The authors present two cases of pulmonary alveolar microlithiasis affecting two brothers aged 14 and 19 years respectively. Radiographic findings were typical and impressive. Lung changes were discovered on recruitment in the elder brother and on examination of family members in the younger brother. Both has no complaint and normal respiratory findings. The histopathological diagnosis was made from a sample obtained by bronchoscopic-parabronchial lung biopsy. This report is completed with data from the literature.     

Acute leukemia in two brothers

A 42-year-old man was diagnosed as having refractory anemia in May, 2001. He developed overt leukemia and received allogeneic bone marrow transplantation (BMT). His younger brother, a 40-year-old man, was diagnosed as having acute leukemia with trilineage myelodysplasia in November, 2001. Although he was treated with conventional chemotherapy, he failed to achieve complete remission. He also received allogeneic BMT. We suggest that environmental factors in addition to a genetic defect in the pluripotent hematopoietic stem cells may be associated with the occurrence of this familial leukemia.     

Heroin addicts and nonaddicted brothers

Childhood and adult life experiences of 50 heroin addicts are compared with those of their nonaddicted brothers. The sibling pairs came from large families with a median of six children; 45 pairs came from Mexican-American families. The median age of both addicts and brothers was 39. One-third of both addicts and brothers lost a parent before age 16. The addicts showed early deviant behavior preceding heroin use in contrast to the socially conforming behavior of the brothers. Noteworthy discrepancies appeared in the retrospective explanations offered by the addicts and the brothers of conditions leading to addiction in one and abstinence in the other. The addicts attributed the addiction versus abstinence primarily to association with different peer groups; the brothers cited this difference, but also frequently cited personality differences and other differences, thus giving more complex explanations. As adults the addicts showed gross social impairment on dimensions of employment, criminal record, marital adjustment, and other life activities. The brothers, in contrast, seemed socially competent, but they nonetheless showed evidence of some impairment: 40% were arrested one or more times, and 50% had histories of alcohol abuse. Apparently the brothers did not entirely escape the adverse early environments which shaped the careers of the addicts.     

2 cases of agenesis of the left coronary trunk in adults

Agenesis of the left main coronary artery is a congenital condition the prognosis of which is reputed to be good in adults, provided no associated heart disease is present. The first case reported here illustrates the benign character of the anomaly. In contrast, the second case shows that when associated with proximal atheromatous stenosis of the single right coronary artery the anomaly may have catastrophic consequences. The anatomical variants and morbid associations of left main coronary artery agenesis are described.