Foix-Chavany-Marie-syndrome — neurological,neuropsychological, CT,MRI, and SPECT findings in a case progressive for more than 10 years

Summary In a 66-year-old woman signs and symptoms of bilateral opercular syndrome (Foix-Chavany-Marie-syndrome) developed progressively over a period of more than 10 years. Facio-linguo-velo-pharyngeo-masticatory diplegia with automatic-vol-untary dissociation was accompanied by motor aphasia and oral apraxia leading to a state of almost complete anarthria. Although it initially resembled the anterior biopercular syndrome there are also features indicating involvement of the posterior opercula. Although the aetiology remains obscure without pathological data, a bilateral focal brain atrophy is assumed. This is probably the first case documented by MRI and SPECT.Supported by the Hirnliga, Heidelberg, Federal Republic of Germany     

Horner syndrome

Horner syndrome is an uncommon but important clinical entity, representing interruption of the sympathetic pathway to the eye and face. Horner syndrome is almost always diagnosed clinically, though pharmacological testing can be used to confirm the diagnosis. Imaging modalities such as PET, CT and MRI are important components of work‐up for patients presenting with acquired Horner syndrome. Our patient’s presentation with Horner syndrome unmasked the causative superior sulcus squamous cell carcinoma and a coincidental lower lobe adenocarcinoma. Successful radical treatment of these cancers resulted in complete resolution of the syndrome and disease‐free survival at 18 months. We review the anatomy and pathophysiology underlying this and other causes of Horner syndrome.     

Intrathecal synthesis of IgG subclasses in multiple sclerosis and in acquired immunodeficiency syndrome (AIDS)

Serum and cerebrospinal fluid (CSF) of 50 neurological patients (24 multiple sclerosis (MS), ten acquired immunodeficiency syndrome (AIDS) and 16 other neurological diseases (OND)) and ten controls were analyzed by enzyme-linked immunosorbent assay (ELISA) for IgG subclass quantification and for the calculation of intrathecal synthesis (ITS). Total IgG was determined by two methods: electroimmunodiffusion (EID) and ELISA. A highly significant correlation was established between both methods. The existence of ITS was proved by the IgG/albumin ratio, the IgG index, Tourtellotte's formula, and Schuller's formula. In AIDS patients all IgG subclasses showed an increase in the CSF, whereas in sera only the IgG1 was significantly increased. CSF of MS patients showed a predominant increase of IgG1 whereas no significant modification of IgG subclasses was observed in sera. In most of the AIDS patients there was an ITS of IgG1, IgG3 and IgG4, but rarely (3/10) IgG2. In contrast, a polyclonal ITS of IgG was exceptional (1/24) in MS patients. No significant correlation could be established between clinical data and IgG subclass ITS in MS. The variations of each IgG subclass in serum and in ITS were not significantly correlated. Measurement of each IgG subclass and calculation of ITS seems essential in order to analyze any subclass antibody repertory inside the central nervous system.     

An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS).

Velo-cardio-facial syndrome (VCFS) is associated with deletions on the long arm of chromosome 22, mild intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies investigating the neuropsychological functioning of adults with VCFS. We compared 19 adults with VCFS with 19 age, gender and IQ matched controls using a comprehensive neuropsychological battery. Compared to controls, adults with VCFS had significant impairments in visuoperceptual ability (Visual Object and Space Perception Battery), problem solving and planning (Tower of London) and abstract and social thinking (Comprehension WAIS-R). It is likely that haploinsufficiency (reduced gene dosage) of a neurodevelopmental gene or genes mapping to chromosome 22q11 underlies the cognitive deficits observed in individuals with VCFS.     

Behaviour problems in adult women with Rett syndrome

Background Despite considerable interest in the genetic, physical and neurological aspects of Rett syndrome (RS), there have been few studies of associated behavioural and emotional features. Furthermore, few case studiesor surveys have included adult women with RS. The main aim of the present study was to compare behaviour problems in a sample of women with RS against data from normative samples. Methods The primary carers of 50 women with RS completed the community version of the Aberrant Behavior Checklist. Results Women with RS were rated as having lower levels of irritability, hyperactivity and inappropriate speech behaviours than normative samples of adults with intellectual disability. Conclusions A number of factors may affect the presentation of behaviour problems in women with RS (e.g. cognitive impairments or physical disabilities). Therefore, more research is needed in order to generate information about the behavioural phenotype of RS. The implications of the present data for future research are also discussed.     

Plasma C3c in immune-mediated neurological diseases: a preliminary report

Plasma C3c levels were examined in 56 patients with immune (27) and non-immune (29) mediated neurological diseases by crossed immunoelectrophoresis. Plasma samples were collected during the active phase of illness in both groups, usually within 7 days of admission. 11 patients (4 Guillain-Barré Syndrome-GBS, 3 chronic inflammatory demyelinating polyneuropathy-CIDP, 4 myasthenia gravis-MG) had their plasma saved sequentially during the active and the recovery phase. Plasma C3c levels were elevated in the group with immune mediated diseases when compared with those of non-immune mediated diseases. The sensitivity and specificity of C3c as a diagnostic test for immune mediated neurological diseases were 61.4 and 100% respectively with a positive and negative predictive value of 100 and 41%. the C3c levels in plasma correlated well with disease severity in MG and GBS patients. Such a correlation was also evident in all CIDP patients except one that had persistent elevation in the presence of clinical improvement. Results suggest that the plasma C3c level may be useful for differentiating immune from non-immune mediated neurological diseases. Plasma C3c may also be used for monitoring disease severity, particularly in myasthenia gravis.     

Tourette syndrome and neuropsychological performance

This study examined performance on a battery of neuropsychological tests in a sample of 28 patients with Tourette's syndrome (TS). Test scores were converted to age-corrected T-scores to control for the effect of age on test performance. The frequency of abnormal test performances was variable, but more frequent on motor and sensory tasks. Symptom severity as measured by the Tourette Syndrome Global Scale was inversely related to neuropsychological performance. In general, neuropsychological performance was mildly below average. The pattern of performance was similar to previous studies of TS patients.     

二尖瓣置换术围手术期硝普钠的应用

本文介绍了20例二尖瓣置换术病人围手术期使用硝普钠的经验。术中和术后早期使用硝普钠可降低肾素-血管紧张素系统的活性、减轻外周血管阻力和后负荷,增强泵血功能,从而使心脏指数升高,降低术后高血压和肺水种的发生率。体外循环停止后,硝普钠与低浓度升压药并用可增强心肌收缩力,预防低排综合征     

Pleural effusion following coronary perforation during balloon angioplasty: an unusual presentation of the postpericardiotomy syndrome.

We report on the development of features of the postpericardiotomy syndrome following coronary perforation during balloon angioplasty, in a patient that was managed conservatively. The case illustrates that while cardiac tamponade does not invariably follow coronary perforation, late consequences derived from this complication may occur. It also widens the spectrum of conditions where the postpericardiotomy syndrome has been observed.     

Atypical hemolytic uremic syndrome in human immunodeficiency virus-1-infected children

We describe the clinical and pathological findings of the hemolytic uremic syndrome (HUS) in two children with human immunodeficiency virus (HIV) infection. Both patients presented with microangiopathic hemolytic anemia, thrombocytopenia, and subsequently developed renal failure. The diagnosis of HUS was confirmed by renal histopathology in both patients. None of these children presented with bloody diarrhea, evidence of circulating antibody response to Escherichia coli O157 lipopolysaccharide, or other known risk factors for HUS, except for the presence of HIV infection. Each patient was treated with intravenous plasma infusion and renal replacement therapy. Their clinical course was characterized by non-oliguria and lack of significant hypertension throughout the acute phase of the disease. Despite these favorable clinical parameters, both patients developed end-stage renal failure. The etiology of this atypical HUS characterized by poor renal survival remains unknown and the role of HIV infection in its pathogenesis, although possible, is unclear. Received March 5, 1996; received in revised form and accepted October 15, 1996