The heterogeneity of distal arthrogryposis

A study of distal arthrogryposis is described including neurology, electromyography, cerebral and muscular CT-scanning, and muscle and nerve biopsies. In four cases presenting with congenital distal contractures, various neuromuscular disorders were diagnosed. They were respectively, congenital myopathy with core-like structures, congenital hypertrophic neuropathy, axonal neuropathy and anterior horn cell disease. The role of cerebral disorders in the pathogenesis of distal contractures is also considered. The significance of abnormal dermatoglyphics in the determination of the prenatal time of onset of congenital myopathies and arthrogryposis is discussed. Our findings provide evidence for the hypothesis that distal arthrogryposis may not be a distinct clinical entity with an autosomal dominant inheritance pattern, but a symptom, indicating various cerebral, neuromuscular and connective tissue disorders, present in numerous congenital syndromes with different modes of inheritance. In addition the value of electromyography, nerve conduction velocity studies, muscle and cerebral CT-scanning, and histology of muscle and nerve biopsies in the differential diagnosis of (distal) arthrogryposis is stressed.     

Arthrogryposis Multiplex Congenita due to Congenital Myasthenia

Decreased fetal movements may cause arthrogryposis multiplex congenita. Several distinct neuromuscular disorders may cause this syndrome, but congenital myasthenia has not previously been considered to be a possible cause. The authors report a case of congenital myasthenia gravis leading to arthrogryposis congenita.     

Congenital muscular dystrophies

The congenital muscular dystrophies are a group of genetic myopathies characterized by hypotonia, weakness, or arthrogryposis at birth. Classification is inadequate and based entirely upon phenotypic expression, because a genetic marker has not been identified in any of these disorders. Some have only muscle disease, whereas others have cerebral disturbances (hypomyelination and/or disturbances of neuronal migration) as well. Ocular malformation may also be present. The outcome is variable, and it is difficult to provide an accurate prognosis soon after birth.     

Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders

Congenital cerebral hypomyelination includes a group of genetic disorders, such as Pelizaeus-Merzbacher disease (PMD), and is characterized by hypomyelination of the cerebral white matter. Until recently, no classification system was available for congenital hypomyelination disorders that are clinically and genetically excluded for PMD. However, the establishment of new disease entities with gene discoveries has generated a clinical need for a new classification and diagnostic criteria for this group of disorders. Here, we review the recent findings on congenital cerebral hypomyelination, which includes 11 diseases, with a novel disease classification and diagnostic criteria with flow charts.     

Genetic mimics of cerebral palsy

The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral palsy. Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor symptoms (including hypotonia, spasticity, dystonia, and chorea), often accompanied by developmental delay. The primary etiology of a cerebral palsy syndrome should always be identified if possible. This is particularly important in the case of genetic or metabolic disorders that have specific disease‐modifying treatment. In this article, we discuss clinical features that should alert the clinician to the possibility of a cerebral palsy mimic, provide a practical framework for selecting and interpreting neuroimaging, biochemical, and genetic investigations, and highlight selected conditions that may present with predominant spasticity, dystonia/chorea, and ataxia. Making a precise diagnosis of a genetic disorder has important implications for treatment, and for advising the family regarding prognosis and genetic counseling. © 2019 International Parkinson and Movement Disorder Society     

Arthrogryposis multiplex congenita. Review with comment

The definition and the clinical picture of arthrogryposis multiplex congenita (AMC) are discussed and the associated anomalies, deformities and syndromes are listed. It is stressed that isolated congenital contractures in (progressive) neuromuscular disorders may be manifestations of AMC, dependent on the moment of their onset. On the issue of the etiology it is made clear that a great number of pathological processes causing immobilisation of limbs of a fetus during or shortly after the embryonic formation of joints may result in AMC. Causes of decreased fetal movement are disorders of the developing motor system on all levels and inadequacy of the environment of the fetus. Decreased fetal movements are characteristic during pregnancy. Perinatal complications of AMC are common due to malpresentation provoked by the rigid fixated joints. The incidence, heredity, therapy and prognosis are briefly reviewed. Special attention is drawn to CNS aspects: cerebral disorders causing AMC and cerebral complications resulting from the condition. Finally it is stated that the definition and classification of AMC may need further revision in the future. Moreover, it is advocated that the cerebral aspects of AMC require further study.     

脑梗死急性期胃肠功能紊乱的相关危险因素分析

目的分析脑梗死急性期胃肠功能紊乱的发生情况、相关危险因素。方法收集本院神经内科2008年1月-2012年6月住院的脑梗死急性期病例,观察脑梗死急性期胃肠功能紊乱发生情况以及其相关危险因素。结果共收集脑梗死急性期病例1286例,符合入组条件病例736例,胃肠功能紊乱发生率65％,脑梗死急性期胃肠功能紊乱发生的相关危险因素包括梗死部位即小脑、脑干和丘脑梗死,梗死后神经功能缺损程度以及梗死急性期血糖水平。结论脑梗死急性期存在较高的胃肠功能紊乱发生率,相关危险因素包括丘脑、小脑、脑干梗死、梗死后血糖升高以及脑梗死后神经功能缺损程度。     

急性脑卒中患者并发心肌损害的研究

目的　探讨急性脑卒中并心肌损害发生的机制及防治措施。方法　对 76例急性脑卒中患者入院后进行心电图及肌酶谱动态观察 ,并结合临床资料进行分析。结果　急性脑卒中患者心电图改变占 5 0 %～ 86 % ,心肌酶谱有不同程度增高 ,易产生心肌损害 ,只要防治及时 ,病情可好转。结论　急性脑卒中患者需加强心脏功能监护 ,积极防治并发心肌病变。     

无症状性脑梗塞危险因素分析

通过对104例经头颅CT或MRI扫描证实的无症状性脑梗塞患者的回顾性分析，以期获得对该疾病较全面的认识，从而有利于早期诊断和早期治疗.本组共发现246个梗塞灶，86．6％为小腔隙性脑梗塞，且多分布于脑深部区域。结合有关文献作者讨论了无症状脑梗塞发病的危险因素。强调加强对基础疾病的治疗和对高危人群进行影像学检查。     

Asymmetric arthrogryposis multiplex congenita with focal pachygyria

A male infant with predominantly right-sided arthrogryposis multiplex congenita is presented. His posture in the lower extremities was asymmetric, and left thoracic scoliosis was present. This patient also manifested focal pachygyria dominantly affecting the contralateral cerebral hemisphere and hypoplasia of the corpus callosum, brainstem, and cerebellar vermis. Generalized tonic seizures began at 2 months of age, and an electroencephalogram revealed epileptic discharge. Biopsy of the right biceps revealed a nonspecific change. A direct causal relationship between neuronal migration disorders and arthrogryposis multiplex congenita has not been established, but considering the abnormal neuronal migration along the entire neural axis in focal pachygyria, the predominantly right-sided arthrogryposis in this patient was speculated to be closely related to the pachygyria of the frontal and temporal lobes dominantly affected in the left cerebral hemisphere.     

Combination of olfactory course anterior cerebral artery and accessory middle cerebral artery (MCA) with occluded in situ MCA and related moyamoya phenomenon

We describe a rare case of congenital persistence of a primitive olfactory anterior cerebral artery in association with an ipsilateral accessory middle cerebral artery. The normally and anatomically positioned, or in situ, middle cerebral artery was occluded. This, along with a well-developed anastomotic network of lenticulostriate artery domains and leptomeningeal collaterals suggested a moyamoya phenomenon. To our knowledge, ours is the first report of this anatomic variant and the altered conventional vascular territories of supply.     

The familial syndrome of proliferative vasculopathy and hydranencephaly-hydrocephaly: immunocytochemicaI and uItrastructuraI evidence for endothelial proliferation

This is the fourth report of Fowler-type hydranencephaly, or proliferative vasculopathy and hydranencephaly-hydrocephaly (PVHH), and is both the first case in Europe and the first case reported in an Asian family. A 17-week fetus showed severe arthrogryposis, pterygia and muscular hypoplasia. Massive cystic dilatation of the cerebral ventricles with thin disorganized pallium was associated with calcifications and characteristic glom-eruloid vasculopathy throughout the CNS. Hydranencephaly in a previous pregnancy was demonstrated ultrasonographically at 13 weeks gestation. The glomeruloid vasculopathy, unique to this disorder, has ill-defined vascular channels, prominent reticulin network and inclusion-bearing cells which our immunocytological and ultrastructural studies suggest are endothelial cells. Aetiopathogenesis remains uncertain: previous hypotheses include congenital infection or primary neuro-ectodermal failure. Our present clinical and morphological findings suggest a primary role for the glomeruloid vasculopathy at the time of vascular invasion of the cerebral mantle during the first trimester. Previous and present case data support autosomal recessive inheritance, in contradistinction to sporadic, encephaloclastic, hydranencephaly from which PVHH can be readily differentiated by microscopic examination.     

老年大面积脑梗死40例临床特点分析及诊治体会

目的:探讨老年人大面积脑梗死的临床特点及其诊治中应注意的问题。方法:回顾性分析40例老年人大面积脑梗死的临床资料。结果:年龄65～91岁,危险因素有高血压、冠心病、房颤、糖尿病、高脂血症、短暂性脑缺血发作、颈动脉硬化斑块等,临床表现有意识障碍、头痛、呕吐、凝视麻痹、语言障碍、眩晕、肢体瘫痪、抽搐等,并发症有出血性梗死、肺部感染、脑疝、上消化道出血等,头颅CT显示梗死灶以大脑中动脉供血区为主,死亡原因有多器官功能衰竭、重症肺部感染、脑疝、上消化道大出血等,存活者遗留严重后遗症。结论:老年人大面积脑梗死,针对危险因素积极有效干预以降低发病率,加强对意识障碍的鉴别,及早头颅CT检查协助诊断,治疗中兼顾其它系统疾病,积极预防并发症、降低死亡率。     

Myopathies associated with β-tropomyosin mutations

Mutations in TPM2, encoding β-tropomyosin, have recently been found to cause a range of muscle disorders. We review the clinical and morphological expression of the previously reported mutations illustrating the heterogeneity of β-tropomyosin-associated diseases and describe an additional case with a novel mutation.The manifestations of mutations in TPM2 include non-specific congenital myopathy with type 1 fibre predominance, nemaline myopathy, cap disease and distal arthrogryposis. In addition, Escobar syndrome with nemaline myopathy is a manifestation of homozygous truncating β-tropomyosin mutation.Cap disease appears to be the most common morphological manifestation. A coarse intermyofibrillar network and jagged Z lines are additional frequent changes. The dominant β-tropomyosin mutations manifest either as congenital myopathy or distal arthrogryposis. The various congenital myopathies are usually associated with moderate muscle weakness and no congenital joint contractures. The distal arthrogryposis syndromes associated with TPM2 mutations include the less severe forms, with congenital contractures mainly of the hands and feet and mild or no muscle weakness. The dominant TPM2 mutations include amino acid deletions/insertions and missense mutations. There is no clear relation between the type of mutations or the localisation of the mutated residue in the β-tropomyosin molecule and the clinical and morphological phenotype.     

Postprandial cerebral infarction

Some neurological diseases are accompanied by autonomic dysfunction. Postprandial hypotension (PPH) is one disorder accompanied by autonomic dysfunction. Although the major symptoms of PPH are fall and syncope, PPH is sometimes overlooked because of its non-specific symptoms, such as dizziness, nausea, and light-headedness. Because PPH could result in decreased cerebral perfusion pressure accompanied by a decrease in blood pressure, PPH may be linked to the risk of hemodynamic stroke or transient ischemic events, especially in patients with chronic cerebral large vessel occlusion/stenosis. Whether chronic cerebral large vessel occlusion or stenosis causes symptomatic ischemic events depends on the patient’s compensatory collateral circulation and cerebral vasoreactivity. Therefore, we hypothesized that cerebral blood flow assessment could be essential for stratifying patients at high risk of postprandial cerebral infarction. However, there have been few reports on the association between cerebral blood flow and the occurrence of postprandial cerebral infarction. In a literature review, we identified seven cases of postprandial cerebral infarction. Postprandial cerebral infarction occurs in patients with chronic cerebral large vessel occlusion/stenosis accompanied by cerebral blood flow reduction. Non-pharmacotherapeutic and pharmacotherapeutic approaches could improve postprandial cerebral infarction; however, one patient with poor compensatory collateral circulation and reduced cerebral vasoreactivity experienced recurrent symptomatic episodes even with sufficient medical treatment and needed extracranial-intracranial bypass surgery. Physicians should be aware of PPH as it can complicate neurological disorders. Long-term blood pressure monitoring for the detection of PPH and cerebral blood flow assessment is needed in patients with cerebral large vessel occlusion/stenosis to prevent postprandial cerebral infarction.     

The association of cortical dysplasia and anterior horn arthrogryposis: a case report

We describe a 21-year-old woman with neurogenic congenital contractures (arthrogryposis) of the lower limbs, normal intelligence, hyper-reflexia and partial epilepsy. MRI revealed bilateral opercular (perisylvian) cortical dysplasia with infolding of cerebral cortex, a focal neuroblast migrational disorder. This type of migrational disorder is known to have a prenatal onset after the 20th fetal week, whereas the anterior horn cell degeneration responsible of neurogenic arthrogryposis originates at 12–14 weeks of gestation. A prenatal viral infection along the neural axis during both these gestational periods or a genetic defect could be responsible for both lesions in this case.     

Using electropalatography (EPG) to diagnose and treat articulation disorders associated with mild cerebral palsy: a case study

Some children with mild cerebral palsy have articulation disorders that are resistant to conventional speech therapy techniques. This preliminary study investigated the use of electropalatography (EPG) to diagnose and treat a long‐standing articulation disorder that had not responded to conventional speech therapy techniques in an 8‐year‐old boy (D) with a congenital left hemiplegia. The targets for EPG therapy were speech errors affecting velar targets /k, g, η/, which were consistently fronted to alveolar placement [t, d, n]. After 15 sessions of EPG therapy over a 4‐month period, D's ability to produce velars improved significantly. The EPG data revealed two features of diagnostic importance. The first was an unusually asymmetrical pattern of tongue‐palate contact and the second was unusually long stop closure durations. These features are interpreted as a subtle form of impaired speech motor control that could be related to a mild residual neurological deficit. The results suggest that EPG is of potential benefit for diagnosing and treating articulation disorders in individuals with mild cerebral palsy.     

The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions

A comprehensive prospective clinical study is presented of 75 cases of fetal hypokinesia and congenital contractures of various causes, with neuropathological investigation in 23 cases. With the data of medical history, neurological examination, laboratory tests and neuropathology an exact or probable nosological or syndromal diagnosis could be made in 61 cases. These cases were categorized by localisation of causal pathology in the subsequent levels of the developing motor system. In 14 of 61 cases developmental brain disorders (f.i. hydrocephalus, hydranencephaly, microcephaly) were the cause of fetal hypokinesia, often with perinatal death, whereas in 7 cases both cerebral and/or spinal cord lesions were found. Besides cerebral involvement was frequently present in cases with congenital contractures of other origin, concomitant or due to perinatal complications. In a large number of cases clinical evidence of spinal cord lesions, especially anterior horn cell degeneration was present. Myopathic disorders occurred in only four cases, whereas congenital myasthenia and congenital neuropathy were present in one case each. In cases without muscle weakness miscellaneous disorders including congenital skin anomalies and probably primary connective tissue disorders were encountered. The etiologic role of intrauterine viral infection is discussed.     

Aphasia and infarction of the posterior cerebral artery territory

Spoken language disorders are rarely mentioned in superficial infarction of the posterior cerebral (PCA) territory. Two clinical types have been reported: transcortical sensory and amnesic aphasia. Between 1979 and 1990, we studied retrospectively 76 patients suffering from an occipitotemporal infarction located in the superficial territory of the posterior cerebral artery, all well documented by CT. Aphasia was one of the first and prominent signs in 18 cases. Middle cerebral artery concomitant infarction could have been the cause of language impairment in 10. In 8 patients aphasia was only explained by a PCA territory infarct. Three patients showed features of transcortical sensory aphasia. CT localization showed internal lobe and thalamic involvement of the dominant hemisphere. Five patients exhibited word finding impairment with various degrees of amnestic syndrome. The dominant internal temporal lobe was always afffected. Dominant thalamus involvement was found in one case only. Some correlations between clinical features and anatomical support (vascular supply and anatomical structure) might be suggested in our 8 cases of aphasic disorders due to PCA infarcts. They are discussed and compared with data in the literature.     

CT perfusion cerebral blood flow imaging in neurological critical care

Computed tomography (CT) perfusion imaging is a technique for the measurement of cerebral blood flow, cerebral blood volume, and time-to-peak or mean transit time. The technique involves the administration of a single-bolus dose of iodinated contrast material, followed by spiral CT imaging during the passage of the contrast bolus through the cerebral vasculature. CT perfusion is a fast and inexpensive brain imaging modality for use in the management of patients with various neurological disorders, ranging from acute stroke to subarachnoid hemorrhage. This article reviews the technique of CT perfusion and presents several illustrative cases in which this imaging modality was used effectively in the critical care of patients with neurological disorders.