Iatrogenic Creutzfeldt-Jakob disease subsequent to dural graft: persisting risk after 1987.

The first case of Creutzfeldt-Jakob disease (CJD) related to the use of a dura mater graft of cadaveric origin was identified in 1987 and this procedure is now considered as one of the main causes of iatrogenic CJD. Although the decontamination procedure for the preparation of graft material was modified, the product was withdrawn from the market in many countries a few years later and replaced by synthetic material. In this context, two patients treated in our institution developed CJD following a cadaveric dural graft performed after cerebral and lumbar trauma. Their clinical presentation, showing predominant cerebellar symptoms, late deterioration and myoclonic jerks, and a rapid disease course until death, was similar to that of previously reported cases involving the iatrogenic form. As the graft for one of the patients was performed in 1991 (several years after modification of the decontamination procedure), this fourth reported case suggests that the risk of iatrogenic CJD may have persisted in some patients treated after 1987, when grafts of cadaveric origin were totally abandoned.

[Ptosis and mastication disorders revealing concurrent myasthenia gravis and chronic polyradiculoneuritis]. / Ptosis et troubles de la mastication révélateurs d'une association myasthénie et polyradiculonévrite chronique.

Although myasthenia gravis (MG) has frequently been associated with other autoimmune disorders, it has only rarely been reported in conjunction with diseases of the nervous system. A 74-year-old patient with hypertension suddenly presented left unilateral ptosis and mastication disorders. Clinical examination showed a concomitant loss of strength distally and reduced deep tendon reflex. Electrophysiologic data indicated a diagnosis of MG and chronic inflammatory demyelinating polyneuropathy; acetylcholine receptor antibody was elevated at 4.1 nmol/L (normal < 2 nmol/L). Improvement was rapid after initiation of pyridostigmine in association with corticosteroid (1 mg/kg/day). One month later, the cranial nerve deficit disappeared and strength was normal. It is likely that a basic abnormality of immune regulation was responsible for the emergence of diseases with different clinical presentations, but similar immunopathogenesis. Corticosteroid seemed to be the most effective treatment.

Decrease in heart ventricular ejection fraction during multiple sclerosis.

Recent studies have shown that mitoxantrone is effective in patients with active multiple sclerosis (MS) and that cardiac monitoring is usually required. However, right and left ventricular ejection fractions (VEFs) have never been studied in MS patients as compared with control subjects. Radionuclide angiocardiography (RA) was performed to assess right and left VEFs at rest in 40 consecutive patients with active definite MS [15 men and 25 women; mean age 33.9 +/- 10 years; mean disease duration 8 +/- 6.5 years; 18 had relapsing-remitting and 22 had secondary progressive forms of the disease; mean Expanded Disability Status Scale (EDSS) score 4.8 +/- 1.9]. The control group consisted of 40 subjects free of neurological or cardiovascular disease (17 men and 23 women; 44.6 +/- 13.4 years of age). The VEF values obtained in the control group defined the normal limits (right VEF 32-54%; left VEF 50-74%). A statistically significant decrease of right (P=0.02) and left (P < 0.0001) VEFs was found in MS patients as compared with control subjects. RA showed pathological results for right (7.5%), left (10%) and both (7.5%) VEFs in 25% of MS patients. No correlation was found between VEF and sex, age, disease duration, disease course, EDSS score or previous treatment. Autonomic impairment, which frequently occurs in MS patients, may have accounted for the decrease in VEFs. Further physiological studies are required to determine factor responsible for the decrease of VEFs in MS.

[Recurrent syncope and Chiari malformation]. / Syncopes itératives et malformation de Chiari.

Downward herniation of the cerebellar tonsils through the foramen magnum (Chiari I malformation) is usually revealed by head and neck pain, often associated with brain-stem or spinal cord disturbances. Syncopes are rarely reported and may be difficult to link to their cause when they occur alone. We report two cases with brief and repetitive syncopes revealing a Chiari I malformation. These manifestations may be attributed to transient compression of brain stem or vascular structures at the craniocervical junction, triggered by intracranial pressure increase, as they disappear after posterior fossa decompression.

[Progressive multifocal leukoencephalopathy and pulmonary sarcoidosis]. / Leucoencéphalopathie multifocale progressive et sarcoïdose pulmonaire.

An association of progressive multifocal leukoencephalopathy (PML) and sarcoidosis in a 47 year-old-woman is reported. This is the third case in which PML has been diagnosed by PCR. Clinical, biological and radiological features were in agreement with previous findings in immunologically suppressed patients. JC virus should be systematically detected by PCR in blood and cerebrospinal fluid (CSF) in patients with sarcoidosis presenting neurological and radiological PML manifestations.

[Late cerebrovascular complications of cardiac transplantation]. / Les complications cérébro-vasculaires tardives de la transplantation cardiaque.

The occurrence of stroke after the post-operative period of cardiac transplantation is a rare event, and the role of the cardiac transplant in these patients, who often have various vascular risk factors, is unclear. We reviewed the clinical records of 303 consecutive patients with orthotopic cardiac transplantation performed from March 1985 to December 1996 and selected those who developed a stroke over the first 2 months postoperatively, in order to evaluate the frequency and the mechanisms of late cerebrovascular complications. Four patients had presented cerebral infarct and two intracranial hemorrhage. The overall risk of late cerebrovascular complications was 2.6p.100 at 5 years. Ischemic stroke was related to cardiac embolus in one patient, lacunar infarction in another, and was of undetermined etiology in two cases. In addition to vascular risk factors prior to transplantation and the development of intracardiac thrombus, immunosuppressive therapy, the surgical procedure and cardiac rejection may play a role in the occurrence of stroke in such patients.

[Analysis of neuropsychological disorders coupled with 99m Tc-HMPAO Spect in amyotrophic lateral sclerosis. Prospective study of 16 cases]. / Analyse des troubles neuropsychologiques couplée à la tomographie à émission monophonique au HMPAO Tc99 m dans la sclérose latérale amyotrophique. Etude prospective de 16 cas.

A prospective psychometric study was conducted in 16 patients who recently developed classic sporadic amyotrophic lateral sclerosis and had no signs of anxiety or depression. Tests included PM38, MMS, Rey word and Rey image tests, span, Stroop test, verbal fluency, Wisconsin test and London Tower test coupled with 99m Tc HMPAO tomography. Results demonstrated that the patients had no intellectual degradation nor visual constructive disorders but had disturbed verbal and visual memory with a reduced verbal fluency (particular bulbar forms), perseverance errors on the Wisconsin test (half of the cases) and an increased number of movements in the London Tower test. These disorders were moderate with no clinical impact and variable (the neuropsycological examination was normal in 4/16 patients). 99m Tc HMPAO tomography was normal in 4 cases, showed slight rolandic hypoperfusion in 6 and extensive hypoperfusion outside the motor zone in 2. Visual analysis of the 99m Tc HMPAO images did not reveal any clinico-metabolic correlations.

Frontal type dementia preceding amyotrophic lateral sclerosis: a neuropsychological and SPECT study of five clinical cases.

Between 1993 and 1995, we observed five sporadic cases of frontotemporal dementia (FTD) which in all cases preceded the appearance of typical amyotrophic lateral sclerosis (ALS). The FTD rapidly became severe (within 12-18 months) and the delay between the presumed onset of mental change and ALS was short (12-26 months). The frontal dysfunction was characteristic (disinhibited, jocular, impatient, gluttonous, stereotypical gestures). The language impairment (less talkative, persistent errors, fantastic and semantic paraphasia, neologistic errors, echolalia) was constant. Single photon emission computed tomography (SPECT) with 99 Tcm HMPAO (hexamethyl propylamine oxime) was done at the same time as neuropsychological testing in four cases and showed serious diffuse bifrontal defect, sometimes with less serious internal temporal hypofixation. All patients died with bulbar ALS complications. The total course can last from 14-48 months. Most of the reported cases suggested a relationship between dementia-ALS and frontal dysfunction. The mechanism underlying dementia-ALS remains to be solved. Our five cases resemble those reported by Mitsuyama (1993), who suggested that dementia-ALS has the same clinicopathological entity.

[Frontal type dementia and amyotrophic lateral sclerosis. 3 cases with (HmPAO Tc99m) single-photon emission tomography study]. / Démence de type frontal et sclérose latérale amyotrophique. Trois cas avec étude en tomographie d'émission monophotonique (HmPAO Tc99m).

Three cases of rapid onset neuropsychological frontal dementia preceded the development of sporadic amyotrophic lateral sclerosis by 12 to 24 months. HmPAO Tc99m scintigraphy demonstrated hypoactivity in the cortex, predominantly in the frontal region. Three hypotheses are discussed: 1) coincidence between two degenerative diseases, Alzheimer's disease or Pick's disease and ALS; 2) an amyotrophic form of Creutzfeld Jakob disease; 3) pre-senile dementia associated with a motoneuron disease, a clinical pathology entity recently described by Mitzuyama.

[Anarthria, progressive apraxia and extrapyramidal syndrome: an uncommon clinical form of corticobasal degeneration? A case studied by HMPAO Tc99m single-photon emission tomography]. / Anarthrie, apraxie progressive et syndrome extra-pyramidal: forme clinique particulière de dégénérescence cortico-basale? Un cas avec étude en tomographie par émission monophotonique au HMPAO Tc99M.

A 48-year-old man presented with impaired joint movement and buccofacial apraxia. The disease progressed for six years associating an akineto-hypertonic syndrome, marked anarthria, saliva incontinence, bi-opercular syndrome, bucco-facial apraxia, severe global gestual apraxia and a frontal syndrom. Oculo-motricity and gait were normal. Magnetic resonance imaging of the brain demonstrated fronto-parietal atrophy and HMPAO Tc99 tomography revealed hypoperfusion of the cortex clearly predominating in the left parietal region. These particular findings with predominantly intense joint involvement is similar to the clinical picture in corticobasal degeneration--subcortical signs (progressively uncontrollable hypertonia) together with cortical signs (severe gestual apraxia). The neuroradiological imaging and functional results also suggest a degenerative process.

[Molecular genetic study of a family with Kennedy syndrome including a symptomatic heterozygote]. / Etude génétique moléculaire d'une famille atteinte du syndrome de Kennedy avec une hétérozygote symptomatique.

Four men and one woman of the same family with Kennedy-type-bulbo-spinal amyotrophy have been followed up for 7 to 20 years. The genetic marker: insertion of repeated sequences of trinucleotide Cytosine-Adénine-Guanine described by Fischbeck and La Spada in Nature (1991), in the coding region of the androgen receptor gene, on the long arm of X chromosome, has been demonstrated here by DNA extraction and PCR amplification.

[Leptomeningeal gliomatosis. 2 clinicopathological cases]. / Gliomatose leptoméningée. Deux cas clinico-pathologiques.

Leptomeningeal gliomatosis is a diffuse glial infiltration of the subarachnoid space. It is primary and very rare when primary astrocytoma arises in the leptomeninges from heterotopic neuroglial tissue; it is secondary and more frequently reported when associated with a medullar or cerebral intraparenchymal astrocytoma and secondary involvement of the leptomeninges. Primary and secondary forms are difficult to differentiate before neuropathological examination. The authors report 2 anatomo-clinical cases of leptomeningeal gliomatosis in adults, with clinical courses of 6 months and 40 days respectively. The initial clinical picture was aseptic chronic or subacute meningitis. Cytologic examinations of the cerebrospinal fluid (CSF) showed moderate lymphocytosis, with elevated protein and low glucose levels, without abnormal cells. On case 2 CT scan and in case 1 spinal MRI isolated diffuse meningeal contrast enhancement was present, without intraparenchymal lesion. The neuropathological study revealed a diffuse astrocytoma glial leptomeningeal tumour with a focal involvement of the central nervous system (spinal cord in one case, temporal lobe in the other). In conclusion, an isolated aseptic lymphocytosis meningitis with meningeal abnormal signal may reveal leptomeningeal gliomatosis. Neuropathological examination can distinguish primary from secondary forms.

[Prognostic factors in the survival of patients with neuromuscular diseases after an episode of acute respiratory insufficiency]. / Facteurs pronostiques de la survie de patients atteints de maladies neuromusculaires après une insuffisance respiratoire aiguë.

We have studied the survival of 49 patients suffering from neuromuscular disease, who were hospitalised in the Respiratory Intensive Care Unit between 1981 and 1990 (29 males and 20 females with a mean age of 49.3 +/- 17 years with a range of 15 to 79). The neuromuscular diseases consisted of 8 with multiple sclerosis, 9 with amyotrophic lateral sclerosis, 8 with Steinert's disease, 11 myopathies, and 10 suffering from miscellaneous neurological diseases. Initially 27 of the 49 patients had been intubated and ventilated. During the hospital stay long-term ventilation was undertaken in 27 patients (21 by tracheotomy and 6 by nasal mask). The principal prognostic factor was the aetiology. Three groups of varying degrees of severity could be individualized: progressive neuromuscular disease (amyotrophic lateral sclerosis and multiple sclerosis), primary muscle disorders (myopathies and Steinert's disease), and neuromuscular disease with little or no evolution (survival at two years was 15%, 45% and 71% respectively for three groups. p = 0.001 by log-rank testing). The other factors which influence survival are age (p < 0.01), the presence of false route (p < 0.01), and the reason for hospitalisation (acute as opposed to chronic progressive deterioration, p < 0.05). In a multivariate analysis the most significant factors associated with the diagnosis were age, the reason for hospitalisation, and the existence of false routes. The initial treatment (intubation) and the prescription of long-term ventilation did not bring with it any significant further information as to prognosis, compared to the model which included these four factors.

Pentoxifylline inhibits experimental allergic encephalomyelitis.

Pentoxifylline, a widely used methylxanthine, has been proven to inhibit the production and action of the cytokine TNF alpha. Since it has been suggested that TNF alpha is the major cytokine involved in the pathogenesis of multiple sclerosis, we tested pentoxifylline for its capacity to prevent experimental allergic encephalomyelitis (EAE). 26 Lewis rats with acute EAE were treated with either pentoxifylline or saline. The pentoxifylline treated rats showed a significantly lower incidence of clinical signs as well as significantly lower histological inflammation. The exact mechanism of this preventive effect remains to be clarified but it might be mainly related to inhibition of TNF alpha release from central nervous system macrophages.

Electrophysiological study of a case of diffuse loss of sweating with segmental hyperhidrosis associated with areflexia.

Electrophysiological investigations were carried out on a 43 year-old man with segmental hyperhidrosis in three radicular territories, generalized anhidrosis elsewhere and areflexia. A recurrent labial herpetic rash and a history of sweating disorders in his grandfather were the only associated clinical data. Sympathetic skin response was found to be absent in anhidrotic territories, including the hands and feet, although it was present in hyperhidrotic territories. Peripheral adrenergic sympathetic fibers evaluated by photoplethysmography were normally responsive, as were visceral vegetative regulations involved in cardiovascular control during postural changes or exercise. The present case is compared to the previously described Ross Syndrome, associating segmental hypohidrosis, areflexia and tonic pupils. Our results and observations in the literature are consistent with the occurrence of lesions affecting postganglionic cholinergic fibres of the sympathetic system.

Corticobasal degeneration: decreased and asymmetrical glucose consumption as studied with PET.

Cerebral energy metabolism was studied by positron emission tomography and [18F]fluorodeoxyglucose in five patients with clinical diagnoses of probable corticobasal degeneration. A reduction in glucose consumption was observed in most cortical and subcortical structures compared to age-matched controls. The reduction was greatest on the side of the brain contralateral to the most affected limbs, as shown by the significantly lower ratios of contralateral to homolateral metabolic rates, in the temporal and sensorimotor cortex of patients compared to controls. A distinct asymmetry between the two hemispheres could be observed in a patient who was examined twice in the course of his illness. Detection of this asymmetrical decrease in brain cortical and subcortical glucose metabolism may prove useful as additional evidence supporting clinical diagnoses of the disease.