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.

[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.

[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.

[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.

[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.

[Rigid-spine syndrome in a female patient (author's transl)]. / Le syndrome de la colonne raide. Un cas féminin.

A case of rigid spine syndrome in a woman is reported. There were a diffuse myopathic process, with atrophy and mild weakness not involving the face and a major rigidity of the spine. Contractures were present as well as a pure restrictive respiratory failure. Heart-rythm disorders and prolapse of the mitral valve were present. Histological features of a deltoid muscle biopsy were slight necrosis, lack of fibrosis and major disproportion in fiber-types. There were a high rate of fiber I and absence of fiber IIB. This case was similar to others described as Dubowitz's rigid spine syndrome. The histological features belonged to the second neuropathological group of cases, with disproportion in fiber-types. The rigid spine syndrome may be considered as a clinically definite disease and distinguished from other myopathies with orthopedic deformations. It should not be confused with arthrogryposis multiplex. The disease is probably autosomic recessive.

[Striato-nigral degeneration. Clinical and anatomic study of a case which responded favorably to L-Dopa]. / Dégénérescence striato-nigrique. Etude clinique et anatomique d'un cas ayant réagi très favorablement à la L-Dopa.

The authors have reported the case of a 65 year old woman followed for almost 4 years with an akineticrigid Parkinsonian syndrome which responded well to levodopa. Waning of response finally occurred and despite the addition of a peripheral dopa decarboxylase inhibitor the patient died suddenly. Autopsy examination revealed pure nigro-striatal degeneration without any additional pathology. The report deals primarily with purity of the Parkinsonian picture and especially with the conspicuous and prolonged effect of levodopa.

[Chronic ischemia of the anterior horn of the lumbar swelling of the spinal cord. Angiographic study in a subject with herniation of the T12-L1 discs]. / Ischémie chronique des cornes antérieures du renflement lombaire de la moelle. Etude angiographique chez un sujet porteur d'une hernie discale D12-L1.

On the basis of a case of almost pure involvement of the anterior horn with chronic progression in an individual with a low thoracic herniated disc (T12-L1), the hypothesis is discussed of the role of ischaemia of the lumbar swelling. Angiographic arguments (displacement of the anterior spinal axis and unusual distribution of anterior spinal afferents) perhaps make it reasonable to speak of "chronic ischaemic poliomyelitis" in the absence of pathological examination.

[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.

[Congenital oculomotor apraxia with corpus callosum agenesis and subtentorial atrophy]. / Apraxie oculomotrice congénitale avec agénésie du corps calleux et atrophie sous-tentorielle.

A 7 year-old child with congenital oculomotor apraxia (Cogan's syndrome) presented with mainly voluntary horizontal saccadic movements. Fixation of a visual target could be obtained only by a sudden movement of the head preceded by eyelid blinking. Electro-oculography confirmed the predominant disturbance of saccadic movements (delay in onset, hypometria). CT scan showed agenesis of the corpus callosum and atrophy of the vermis together with enlargement of the 4th ventricle and pre-pontine cisternae. The role of these anomalies in the pathogenesis of this rare congenital syndrome of good prognosis is discussed.

[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.

[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.

[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.

[Ischemia of the anterior horn of the spinal cord]. / Ischémie de la corne antérieure de la moelle.

Ischemia of the motoneurons in the anterior horn is a well known pathological entity. Their clinical signs and symptoms are similar to those of amyotrophic lateral sclerosis. Evidence by selective angiography of angiomas of the spinal cord or compression or deviation of Adamkiewicz artery may be suggestive of an initial vascular lesion. Various data (knowledge of development or lesions during experimental ischemia, selective electrophysiologic analysis of anterior horn neurons, evidence of precise circumstances of spinal vascular disorder or spinal arteriography) suggest that anterior horn ischemia is a multiple aspect phenomenon. Our 4 cases illustrate this hypothesis and demonstrate under confirmed vascular circumstances the different clinical aspects of anterior horn ischemic lesions. In addition to typical amyotrophic paralysis unusual or misleading symptoms may occur such as claudication, paroxysmal contractures or progressive spastic paraparesis. Investigations required and possible treatment of the lesions are simplified by awareness of these various clinical aspects.

[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.

[Unusual involvement of the CNS in a case of neuro-sarcoidosis (author's transl)]. / Extension inhabituelle d'une sarcoïdose intranévraxique.

A peculiar case of neuro-sarcoidosis is reported. Clinical symptoms associated ocular dysfunction, hypopituitarism due to hypothalamic disorders, hypersomnia and alveolar hypoventilation. Dynamic tests have proved hypothalamic involvement. The patient died swiftly and suddenly. Neuropathological examination showed typical granuloma consistent with sarcoidosis mainly distributed to the area of the third ventricle and spread hyperplastic gliosis of pons and medulla.

[Cerebral radionecrosis discovered 32 years after conventional irradiation therapy for a pituitary adenoma (author's transl)]. / Radionécrose cérébrale découverte 32 ans après irradiation conventionnelle pour adénome hypophysaire.

A case of late radiation lesions of the brain was discovered 32 years after conventional X Ray therapy for pituitary adenoma. The major clinical picture was made of dementia and slight hypothalamic and pituitary dysfunction. Extensive bone-necrosis of the skull was observed. A defect of the sella led to recurrent meningitis. Segmental atheromatous lesions of cortical arteries are supposed to be induced by the photonic radiations. Intra parenchymatous lesions were slightly of the necrotic type and mainly of the degenerative one. Severe hyalin and calcic degeneration of small vessels was observed as well as extensive demyelination. The role of vascular and metabolic effects in the genesis of these late radiation lesions is discussed.

Lhermitte-duclos disease. A rare cause of intracranial hypertension in adults.

In a 39-year old woman hospitalized for intracranial hypertension MRI revealed the presence of abnormal areas in the cerebellar cortex. The negative results of investigations for possible causes, as well as the appearance of radiological abnormalities and their persistence over a 6-month period incited the authors to make a tentative diagnosis of Lhermitte-Duclos disease, despite the lack of anatomicopathological evidence.

[Hydramnios as evidence of Steinert's congenital myotonic distrophy (author's transl)]. / Hydramnios révélateur d'une dystrophie myotonique congénitale de Steinert.

The authors describe a case of Steinert's disease. It was tracked down because of three anomalies of pregnancy: a lessening in active movements of the fetus, breech presentation and hydramnios, and it was diagnosed by neurological and electromyography of the mother. The existence of hydramnios should make it possible to avoid maternal trauma during the delivery, knowing that the child will be born with a very severe form of the illness, which is likely to be lethal. Those few cases that survive are severely mentally handicapped.

[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.