[Listeria monocytogenes abscess of the brain]. / Abcès du tronc cérébral à Listeria monocytogenes.

INTRODUCTION: Listeriosis commonly involves the central nervous system. Meningoencephalitis and rhomboencephalitis are the most frequent manifestations. Brain abscesses are rare. CASE REPORT: We report the case of a 63-year-old man treated with steroids for a long period; he was hospitalized for hemiparesis, confusion and fever. Clinical examination revealed meningeal signs, right hemiparesis and Parinaud syndrome. Initial CT scan was normal. The CSF contained 520 white cells/mm3 with predominance of polymorphonuclear neutrophils. An acute meningo- rhombencephalitis in an immunodepressed patient was suggested. The diagnosis of listeriosis was confirmed by blood cultures. Amoxicillin and gentamycin were started. The outcome on day 4 was severe with coma and tetraparesis. Brain MRI revealed a left peduncle abscess which descended deep into the brain reaching the internal capsule. The final clinical outcome involved residual right hemiparesis and left oculomotor nerve (III) palsy. CONCLUSION: Brain stem abscess is an uncommon form of listerial central nervous system infection. Listeria monocytogenes infection should be considered in patients with altered cell-mediated immunity that develop local neurologic deficits, a diagnosis which pursued rapidly with repeated blood cultures. Successful treatment requires early antibiotic therapy with ampicillin and gentamycin.

[Crossed anarthria and a dissociated lateralisation of language]. / Anarthrie croisée et latéralisation dissociée du langage.

INTRODUCTION: Crossed anarthria cases are uncommon and rather old. OBSERVATION: We report the case of a right-handed 55-year-old man who presented crossed pure anarthria due to a hemorrhage in the premotor cortex (feet of F1 and F2) and in the high part of Pierre-Marie's quadrangle. CONCLUSION: The study of different tasks (articulation, verbal fluency, direct object word-generation from a verb) showed a dissociated lateralisation of his language. Lexico-semantic and grammatical tasks are processed in the left hemisphere. Articulation programming occurs in the right hemisphere.

[Cerebral Erdheim-Chester disease]. / Maladie d'Erdheim-Chester cérébrale.

We report the case of a 26-old-year man hospitalized for first partial complex epileptic seizure. Brain MRI showed an asymptomatic pseudo-tumor lesion in the brainstem. Diabetes insipidus, hypophyseal gonadotropic deficiency and osteosclerosis of long bones strongly suggested Erdheim-Chester disease, a rare histiocytosis, confirmed after tibial biopsy. Six months later, the patient remained stable. A persistent, and even increased, enhancement with Gd-DTPA on brain MR images was noted as previously described. The review of the literature collected 64 cases, and only 7 cases of cerebral "tumor".

[Formulation and stability of hospital preparation of 3,4-diaminopyridine capsules]. / Formulation et stabilité d'une préparation hospitalière de gélules de 3,4-diaminopyridine.

Administration of 3,4-diamynopyridine (3,4-DAP) has been found to be effective in the symptomatic treatment of patients with Eaton-Lambert Myasthenic syndrome. A recent case of this syndrome in Val de Grâce Military hospital led us to manufacture 3,4-DAP capsules. In agreement with good manufactoring processes, we have performed mass uniformity and content tests. Six different formulations were tested, starch maize and magnesium stearate have been validated as excipients. The stability study showed that the conservation was good even under extreme conditions. Clinical and electromyographic improvement seen in this patient suggests this preparation may be of benefit.

[Analysis of 12 cases of McArdle's disease diagnosed after 30 years]. / Maladie de MacArdle diagnostiquée après 30 ans : à propos de 12 cas.

PURPOSE: McArdle's disease (MAD) or glycogen storage disease type V, usually starts in childhood or adolescence. Generally diagnosis is made before the early adulthood because patients present well defined syndrome and are constrained. METHOD: We retrospectively investigated all MAD cases diagnosed in the biochemical laboratory from Debrousse Hospital in Lyon, during 40 years (1962-2002). We then selected patients whose diagnosis had been made after 30 years. RESULTS: Fifteen patients answered our criteria but only 11 files could be analysed. A twelfth patient (service of internal medicine--Royan) supplemented the series. We sought the reasons of a late diagnosis: early age of beginning but few symptoms (7 cases), age of beginning higher than 20 years (5 cases including 3 after 45 years). The principal symptoms were muscular deficit and muscular pains (8 cases) and second wind phenomenon (7 cases). Creatinine phosphokinase level was constantly high. Ischemic effort test when it was carried out was constantly abnormal. Conversely electromyogram was often normal (5 cases). Several biopsies were necessary in a third of the cases to evoke the diagnosis, particularly among the patients with late onset symptoms. CONCLUSION: Diagnosis of metabolic MAD is generally easy if the interrogation finds inaugural symptoms in childhood or adolescence even if the patient consults very late in the life. The diagnosis can become much more difficult if it begins late in life (atypical symptoms, need for several muscular biopsy).

[Susac syndrome or microangiopathy of the cochlea, brain and retina]. / Syndrome de Susac ou microangiopathie cochléo-encéphalo-rétinienne.

OBJECTIVES: Susac syndrome, also called SICRET syndrome (small infarction of cochlear, retinal, and encephalic tissue) is a rare condition difficult to diagnose. Sudden deafness may be the inaugural sign. MATERIAL AND METHODS: A female patient developed subacute encephalopathy, bilateral sensorineural hearing loss, and ischemic retinopathy. The patient was given cyclophosphamid and methylprednisolone for six months, followed by prednisone for eight months. RESULTS: Signs of encephalopathy had totally regressed by month 14 and retinal arteries were free of obstruction. Deafness remained unchanged. CONCLUSION: Diagnosis of this microangiopathy involving the inner ear, the brain, and the retina is suggested by the clinical triad and established on the basis of tonal audiometry, fundus examination, fluorescein angiography, examination of the cerebrospinal fluid, magnetic resonance imaging. Multiple sclerosis is the main differential diagnosis. The pathogenesis remains unknown. We observed transient-evoked otoacoustic emissions. There is no consensus concerning treatment. Many advocate combining corticosteroids and immunosuppressors. Otolaryngologists should be aware that an ophthalmological examination is required for patients with central or visual disorders associated with hearing loss.

[Hodgkin's disease manifesting as paraneoplastic limbic encephalitis]. / Encéphalite limbique révélatrice d'une maladie de Hodgkin.

INTRODUCTION: Malignancy is a possible cause of unexplained encephalitis. EXEGESIS: We describe a 59-years-old woman with limbic encephalitis, not explained by other causes, preceding diagnosis of Hodgkin's disease. Successful treatment of Hodgkin's disease was effective against neurological disturbance. CONCLUSION: This case provides evidence that Hodgkin's disease can be uncovered by paraneoplastic limbic encephalitis.

[Indications for the use of an epidural blood patch in the treatment of spontaneous intracranial hypotension]. / Indication du blood-patch dans le traitement de l'hypotension intracrânienne spontanée.

We report a patient with spontaneous intracranial hypotension treated with an epidural blood patch (EBP) and discuss the indication of this procedure in the treatment of this syndrome. Once diagnosis has been established (symptoms, CSF pressure, MRI), we propose to wait no more than a week, when simple treatment options have failed, before proceeding to an EBP. We inject a minimum of 20 ml, until the appearance of pain while injecting, of autologous blood in the L3-L4 epidural space. If this technique is unsuccessful, T6 would appear to be the best level to perform an EBP because it is by far the most common location of dural leakage (cervico-dorsal junction) and because this choice is also in accordance with the fact the blood may spread over 10 vertebral segments on each side of the injection level. Spinal MRI should at best be done before the procedure but is absolutely required when the patient fails to respond to the EBP conducted in the conditions we propose.

Exercise test in muscle channelopathies and other muscle disorders.

We studied the percentage change in compound muscle action potential (CMAP) amplitude and area during and after a 5-min maximal contraction of the muscle. The exercise test (ET) was performed on 64 patients with different muscle disorders and on 46 normal controls. The range of normal ET values was defined as the mean + 2 SD of the control values. The mean sensitivity of the test was 63% in the whole group with ion channel muscle disorders, the highest sensitivity being seen in primary periodic paralysis (81%) and the lowest in chloride channelopathies (17%). In thyrotoxic periodic paralysis, the ET was abnormal in the three of the four patients studied. In patients with myotonic dystrophy, a smaller than normal increase in CMAP amplitude occurred during and after exercise, whereas in proximal myotonic myopathy a normal initial increase in CMAP amplitude was followed by an abnormal decrement. We conclude that the ET can be of use in confirming abnormal muscle membrane excitability in patients with calcium and sodium channelopathies and thyrotoxic periodic paralysis. In chloride channelopathy, the test may also be abnormal, but shows no, or only a small, increase in amplitude or area in the immediate postexercise period. The test may also be abnormal in proximal myotonic myopathy, but is normal in myotonic dystrophy.

Immunolabelling of mitochondrial superoxide dismutase and of Hsp60 in muscles harbouring a respiratory chain deficiency.

In mitochondrial encephalomyopathies, impairment of the electron transfer chain may lead to overproduction of reduced oxygen species because oxygen consumption is decreased. Whether heat shock proteins (Hsp) are induced or not in mitochondria against oxidative stress is questionable. Muscle ragged-red fibres are the histological hallmark of most respiratory chain deficiencies in humans. They exhibit abnormal mitochondria which accumulate mainly under their sarcolemma. Within these fibres, immunolabelling demonstrated strong expression of mitochondrial manganese-dependent superoxide dismutase and a lack of expression of mitochondrial Hsp60 within the subsarcolemmal spaces. In contrast, Hsp60 was overexpressed within the intermyofibrillar mitochondria. These findings suggest enhanced generation and dismutation of superoxide anions and that processing and integration of imported precursor proteins is impaired within the subsarcolemmal mitochondrial aggregates of ragged-red fibres, whereas protein import and assembly may still be efficient in the intermyofibrillar mitochondria of these fibres.

[Superficial siderosis of the central nervous system]. / Hémosidérose du système nerveux central.

We report five cases of superficial siderosis of the central nervous system. All patients developed progressive deafness and cerebellar ataxia associated with pyramidal tract signs or mental deterioration. The cerebrospinal fluid examinations usually revealed an elevated protein level, without other abnormalities. Magnetic resonance imaging typically showed a hypointense rim around the cerebral and cerebellar hemispheres, the brainstem and the spinal cord on T2-weighted images. A definite source of bleeding was only found in two patients. The literature on superficial siderosis is reviewed. The etiologies and the pathogenesis are discussed.

[Polyradicular lesion revealing ankylosing spondylarthritis]. / Atteinte pluriradiculaire révélatrice d'une spondylarthrite ankylosante.

INTRODUCTION: Radicular manifestations of ankylosing spondylitis are rare and observed in the course of long-term ankylosing spondylitis. EXEGESIS: The case of a young man who presented with bilateral and multiple radicular involvement is reported. Neurological symptoms occur a few weeks before ankylosing spondylitis was diagnosed. CONCLUSION: This suggests that nerve root lesions might take place during initial stages of the disease. The role of inflammatory changes in the region of the intervertebral foramina is discussed. Disease evolution is marked by relief of neurological disorders in response to anti-inflammatory treatment.

[Limbic encephalitis and SIADH revealing small-cell anaplastic lung cancer: MRI and immunologic findings]. / Encéphalite limbique et SIADH révélant un cancer pulmonaire anaplasique à petites cellules. Aspects IRM et immunologiques.

Paraneoplastic limbic encephalitis (PLE) is a manifestation of clinico pathological entity encephalo-myelo-neuropathy associated with anti-neuronal antibodies type 1 (ANNA-1 also called anti-Hu). Isolated PLE is rare. We reported a case of PLE in a 61-year-old heavy smoker man. An inappropriate antidiuretic hormone secretion syndrome was associated. Cranial MRI showed hyperintensity in amygdalo-hippocampic regions on T2 weighted sequences which appeared hypointense on T1-weighted sequences without gadolinium enhancement. Anti-Hu antibodies were absent in serum and in CSF. Despite chemotherapy, he died 18 months after disease onset. Our patient presented PLE without myelonouropathy and without ANNA-1 which suggests a different immunopathology.

Molecular histology of mitochondrial and nuclear transcripts in the muscle of patients harbouring a single mitochondrial DNA deletion.

The distribution of transcripts of mitochondrial and nuclear genes involved in oxidative phosphorylation and of the mitochondrial creatine kinase nuclear gene was examined, using in situ hybridisation, in the skeletal muscle of 11 patients harbouring a heteroplasmic mitochondrial DNA (mtDNA) single deletion. Levels of mRNAs transcribed from genes located within the deletions were not decreased, suggesting that the remaining wild-type mtDNA was still transcribed. Those muscle fibres with characteristic abnormal mitochondrial proliferation always showed overexpression of mRNAs and rRNAs transcribed from mitochondrial genes located outside the deletions. Interestingly, they also showed overexpression of the nuclear-encoded ATP synthase beta subunit mRNA, but not of mitochondrial creatine kinase mRNA. These observations lead to three proposals: (1) overexpression of mitochondrial transcripts within fibres harbouring mitochondrial proliferation, together with the apparently normal expression of the remaining wild-type mtDNA, is not related to decreased mitochondrial translation; (2) it is more probably related to an up-regulation mechanism which co-ordinates both mitochondrial and nuclear expression; and (3) this mechanism is restricted to transcripts directly involved in oxidative phosphorylation and to fibres with mitochondrial accumulation.

Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia.

Multiple deletions of mitochondrial DNA have been detected by Southern blotting in the skeletal muscle of a 42-year-old woman with chronic progressive external ophthalmoplegia. A PCR method, using several combinations of primers covering the whole mtDNA as well as sequence analysis, disclosed the wide spectrum of these multiple deletions differing in size, location and sequence at the breakpoint junction. Most involved the major region between the two replication origins. However, three deletions affected the minor region and lacked either the light strand origin of replication or the heavy strand promoter. These data suggest an impairment of mtDNA replication leading to illegitimate recombination and extensive damage of mtDNA.

An abnormal exercise test response revealing a respiratory chain complex III deficiency.

A 29-year-old man with a progressive exertional muscle intolerance since childhood was referred for incremental exercise test on a bicycle ergometer. The response pattern suggested a mitochondrial myopathy: that is, a greatly reduced maximum oxygen consumption with appropriate heart rate increase and an anaerobic threshold point reached early. The metabolic investigation in plasma revealed an abnormal oxidoreduction status (hyperlactataemia and high lactate/pyruvate ratio) at rest and after a carbohydrate rich meal. The histochemical examination of a muscle biopsy revealed red granular deposits under the sarcolemma for all type 1 fibers. Oxypolarographic and enzymological studies of the mitochondrial respiratory chain in both isolated mitochondria and muscle homogenate demonstrated a marked deficiency of ubiquinol cytochrome c reductase (complex III) activity.