Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group.

OBJECTIVES: Little is known about factors influencing the spread of blepharospasm to other body parts. An investigation was carried out to deterrmine whether demographic features (sex, age at blepharospasm onset), putative risk, or protective factors for blepharospasm (family history of dystonia or tremor, previous head or face trauma with loss of consciousness, ocular diseases, and cigarette smoking), age related diseases (diabetes, hypertension), edentulousness, and neck or trunk trauma preceding the onset of blepharospasm could distinguish patients with blepharospasm who had spread of dystonia from those who did not. METHODS: 159 outpatients presenting initially with blepharospasm were selected in 16 Italian Institutions. There were 104 patients with focal blepharospasm (mean duration of disease 5.3 (SD 1.9) years) and 55 patients in whom segmental or multifocal dystonia developed (mainly in the cranial cervical area) 1.5 (1.2) years after the onset of blepharospasm. Information was obtained from a standardised questionnaire administered by medical interviewers. A Cox regression model was used to examine the relation between the investigated variables and spread. RESULTS: Previous head or face trauma with loss of consciousness, age at the onset of blepharospasm, and female sex were independently associated with an increased risk of spread. A significant association was not found between spread of dystonia and previous ocular diseases, hypertension, diabetes, neck or trunk trauma, edentulousness, cigarette smoking, and family history of dystonia or tremor. An unsatisfactory study power negatively influenced the validity and accuracy of the negative findings relative to diabetes, neck or trunk trauma, and cigarette smoking. CONCLUSIONS: The results of this exploratory study confirm that patients presenting initially with blepharospasm are most likely to experience some spread of dystonia within a few years of the onset of blepharospasm and suggest that head or face trauma with loss of consciousness preceding the onset, age at onset, and female sex may be relevant to spread. The suggested association between edentulousness and cranial cervical dystonia may be apparent because of the confounding effect of both age at onset and head or face trauma with loss of consciousness. The lack of influence of family history of dystonia on spread is consistent with previous findings indicating that the inheritance pattern is the same for focal and segmental blepharospasm.

Possible risk factors for primary adult onset dystonia: a case-control investigation by the Italian Movement Disorders Study Group.

OBJECTIVES: Little is known about the aetiology of idiopathic adult onset dystonia. The Italian Movement Disorders Study Group promoted a case-control study on some hypothetical risk factors including past medical events, life events, life habits, occupational hazards, and family history of dystonia, parkinsonism, and tremor. METHODS: Cases affected by idiopathic adult onset dystonia (age at symptom onset >20 years, duration of disease >one year and

Case report: sequential bilateral carotid dissection leading to Raeder's syndrome.

A 39-year-old man complained of unilateral headache, diplopia and marked anterior neck oppression "like a necklace". MRA was used to study this case of subsequent bilateral internal artery dissection (ICAD) which initially appeared as Raeder's syndrome. MRA proved to be a non-invasive alternative for studying stenosis, occlusions and dissections of the intracranial and extracranial vessels.

Major neurological sequelae of lumbar epidural anesthesia. Report of three cases.

We here report the major permanent neurological complications that developed in three patients after epidural anesthesia. MR clearly showed that paraplegia, which arose one and nine days after anesthesia, was due to epi-subdural haematoma in the first case and epidural abscess in the second. The sudden left lower limb palsy in the third patient was caused by a paracentral ischemic lesion all along the conus-epiconus following a probable trauma of the cord during the insertion of the needle. Despite the fact that this was reported to have been performed at L1-L2, an erroneous introduction into the upper interspace must be postulated since the spinal cord of this patient terminated at mid-L1. Our report is useful insofar as it may remind anesthesiologists and neurologists to pay attention to the unusual complications of spinal anesthesia that may require urgent intervention.

Abnormal projection of corticospinal tracts in a patient with congenital mirror movements.

A 31 year-old woman with familial congenital mirror movements not associated with other neurological defects underwent a detailed neurophysiological evaluation including: voluntary electromyographic activity recorded from upper limbs in response to acoustic stimuli, motor evoked potentials from the thenar muscles to focal transcranial magnetic stimulation, F waves from upper extremities, scalp somatosensory evoked potentials and long-latency responses from thenar muscles to electric stimulation of the median nerve. The results were consistent with the presence of fast-conducting pathways connecting each hand motor cortex with both contra- and ipsilateral spinal motoneurones.

A further case of giant intrasellar carotid aneurysm mimicking a pituitary adenoma: the relevance of a multivariate approach in differential diagnosis.

We describe a 53 year old woman who progressively showed a left extrinsic oculomotor paresis, at first suggesting ocular myasthenia, which was ruled out by a negative Tensilon test. A CT scan of the brain revealed a pituitary mass consistent with an adenoma which was confirmed by endocrinological investigation and standard MRI. Carotid angiography, performed the day before the scheduled trans-sphenoidal surgery, clearly showed a giant intrasellar aneurysm of the left carotid syphon. An extra-intracranial by-pass with occlusion of the internal carotid artery was successfully executed.

"Epilepsia partialis continua" due to multifocal encephalitis: favourable outcome after immunoglobulin treatment.

The case of a young woman with EPCK is described in which neoplastic and vascular disorders were excluded. Supported by EEG and PET, EPCK was imputed to multifocal encephalitis notwithstanding serological and CSF negativity. Cerebral biopsy confirmed the inflammatory nature of the affection, although the etiologic agent was not identified. High dose intravenous immunoglobulin therapy was followed by the prompt disappearance of EPCK and the remission of the other neurological deficits.

Isolated amnesia following a bilateral paramedian thalamic infarct. Possible etiologic role of a whiplash injury.

A previously healthy 45 years old carpenter suffered a whiplash injury in a road accident on July, 18th, 1990. He continued to work in spite of occipital headache, episodic sweatening and slight hypersomnia. On August, 8th, 1990 while parking his car into the deck of a ferry-boat he was found slightly confuse and markedly amnestic. A post-traumatic subdural haematoma was suspected. As a CT-scan of the brain was normal, a toxic encephalopathy or an hysterical amnesia were proposed. However, a MRI performed on August, 22th, 1990, apart from a small infarct in the white matter of the left occipital lobe, showed two small bilateral paramedian thalamic infarcts. The last lesions usually follow a thrombotic or embolic occlusion of the "basilar communicating artery" (BCA) belonging to the vertebro-basilar system. The possible etiologic relationship between this syndrome and the previous whiplash injury has been considered. Six months later, while a control MRI showed a reduction of the brain lesions, a neuropsychological examination revealed a slight improvement of memory dysfunction evident also at a distance of further 6 months. This case is interesting because it tests the high sensitivity of MRI in amnestic syndromes and because of the possible role of a whiplash injury in the etiology of BPTI.

Localization of the pathological process in Miller Fisher syndrome.

A 64 year old woman died at the third attack of MFS. Histological examination demonstrated segmental demyelination and axonal swelling of the peripheral nerves studied, oculomotor included. In the C.N.S. only mild chromatolytic changes and rare pyknosis of the nerve cells in the midbrain were found without signs of primary inflammation. We reviewed the findings in all the 4 anatomoclinical cases of MFS and in 2 cases of GBS with ophthalmoplegia or ataxia. With one exception, they appear to be concordant with those of our case. As the histological examination showed CNS involvement consequent upon peripheral nerve impairment, we are bound to change our opinion on the nosological position of MFS. Any small CT enhancements in the brain in MFS may be due, as in some cases of demyelinating polyneuropathy, to focal rupture of the blood-brain barrier.

Benign focal amyotrophy: a longitudinal study (13-15 years) in 3 cases.

We report three young patients, two male and one female, with B.F.A., followed up clinically and neurophysiologically (two after a muscle biopsy) for 13-15 years. We confirm also in Italy the existence of this monomelic type of muscle atrophy (Hirayama type), already described in other countries, which shows a mild progression of the amyotrophy during the first two years and thereafter remains stationary. In our opinion the disorder represents a segmental transitional form of A.L.S. in which some "delaying" factor, unfortunately not yet demonstrated, is operating. In fact the neurophysiological studies, apart from its attribute of remaining segmentary, do not show differences between B.F.A. and the other forms of motoneuron disease.

[Occasional disclosure of large arachnoid cysts in 2 subjects]. / Rinvenimento occasionale in due soggetti di voluminose cisti aracnoidee.

Two old men in whom the CT and MR scans had unexpectedly shown an enormous arachnoid cyst in the fronto-temporo-parietal region, underwent neuropsychological examination. This did not show any neuropsychological abnormality. This is in accordance with the hypothesis that the cyst represents a dysontogenetic disorder with very slow growth, leaving functionally normal the cerebral structures shifted.

Responsiveness of idiopathic spasmodic torticollis to botulinum A toxin injection. A critical evaluation of five cases.

Five patients with Idiopathic Spasmodic Torticollis (IST), one associated with Meige's disease, have been cured by local injection of purified botulinum "A" toxin (BT). The therapeutic effect on the different subjects treated proved to be variable, and often the effect varied as well on the same subject from session to session. The response was only partly related to the dose of BT injected, and appeared inversely proportional to the number of hyperactive muscles. Transient dysphagia was the major untoward effect of the treatment. The inconstant response to BT makes us consider BT worth to be used selectively in the so-called "agonistic" cases of IST.

Total mesencephalic "locked-in" syndrome. A case report and review of the literature.

A 63-year-old man suddenly fell in a state of apparent coma. An electroencephalogram (EEG) performed at a local hospital revealed the maintenance of a reactive alpha rhythm over the posterior regions of the scalp, allowing a diagnosis of alert coma. The persistence of minimal degrees of alertness and ability to communicate made the clinical picture classifiable as a "locked-in" syndrome (LIS). Bilateral ptosis and complete ophthalmoplegia oriented towards a total mesencephalic form of LIS. Computed tomography (CT) and magnetic resonance imaging (MRI) of the brain showed pathological findings at mesencephalic level. Such findings were insufficient to explain the clinical picture.

Use of botulinum toxin in Meige's disease.

Four patients with severe Meige's disease (blepharospasm-oromandibular dystonia) have been treated, after having given an informed consent, by local injections of purified botulinum toxin type "A". Previous systemic therapy with anticholinergics, dopamine antagonists and other drugs had been unsuccessful in all these subjects. Each patient was treated by saline solution injected with the same method as botulinum toxin, just once. The self-evaluation of patients and the clinical evaluation that some of us- unaware of the kind of therapy which had been performed- gave to the symptoms on the basis of videotapes, for each session of injection, showed that the injections of botulinum toxin are effective in the treatment of such disorder. The duration of the beneficial effect was slightly shorter in these patients than in patients with blepharospasm treated by the same method.

Beneficial effect of botulinum A toxin in blepharospasm: 16 months' experience with 16 cases.

After introducing the problem of blepharospasm, we report our experience on treatment with purified botulinum A toxin in 16 cases of blepharospasm, symptomatic in two and essential in 14, than had not responded to drugs. The changes in intensity and frequency of spasm after treatment were evaluated on a clinical scale and by review of videotapes. The beneficial effect appeared within a week in most patients, lasting from 6 to 28 weeks (mean 13), and reached the maximum at the third-seventh week. Mild spasms and female patients responded better. Repeated injections were followed by better response to the drug. Complications, exclusively local, were represented by transient corneal exposure, ptosis, lacrimation or diplopia.

Acute and subacute akinetic-rigid parkinsonian syndrome mimicking a meningoencephalitis.

Four cases of acute and subacute akinetic-rigid parkinsonian syndrome are described. The clinical picture initially simulated a meningoencephalitis, which was escluded by the negative CSF findings and the aspecific electroencephalogram. In the first case the parkinsonism was attributable, also on the basis of the autoptic findings, to the prolonged neuroleptic therapy; in the other cases a toxic-infectious condition, through a damage on liver function, revealed a subclinical latent parkinsonian syndrome.

Tolosa-Hunt syndrome versus recurrent cranial neuropathy. Report of two cases with a prolonged follow-up.

Two patients are described who had suffered for 12 years from episodes of painful ophthalmoplegia consistent with a Tolosa-Hunt syndrome (THS) alternating with palsies of cranial nerves other than the oculomotor (fifth motor and seventh on both sides). These two cases, as well as other similar ones previously reported in the literature, suggest that THS may sometimes be a variant of so-called recurrent cranial neuropathy, which is a benign and poorly understood clinical entity on an inflammatory or ischaemic basis.

Acquired idiopathic sensory neuropathy. Report of three cases with a prolonged follow-up.

We have followed for more than ten years three women suffering from a S.N. which appeared in their fourth decade. In these patients no malignancy or other known toxic and infectious aetiologies could be found. According to the authors the clinical symptomatology as far as the C.S.F. and the neurophysiological findings justify the separation of S.N. from G.B.S., being the first disorder characterized by an elective damage of the neurones of the ganglia of the posterior roots. Therefore the eponym of "ganglio-neuronopathy" seems appropriate.

Peripheral ophthalmoplegia as the only sign of late-onset fibrous dysplasia of the skull.

A 49-year-old woman presented with a left eye abduction-elevation defect and a bilateral internal rectus palsy of peripheral origin. Thyroid function, cranial computed tomographic scan, and cerebrospinal fluid examination were normal, as were the prostigmine test for myasthenia gravis and the guanidine hydrochloride test for myasthenic syndrome. Skull radiography showed osteosclerotic and osteolytic areas, with slight orbital distortion, and there was hyperactivity in an isotopic scan. A skill biopsy showed fibrous dysplasia. This case is an unusual example of fibrous dysplasia of the skull with neuro-ophthalmological symptoms but without ptosis, exophthalmos, or visual loss.

Total extrinsic ophthalmoplegia as only paraneoplastic sign two years before X-ray diagnosis of bronchial carcinoma.

An extrinsic total ophthalmoplegia developing two years before radiologic evidence of bronchial carcinoma and onset of Eaton-Lambert myasthenic syndrome is reported. Clinical and ENG data showed the neuromuscular location of the ophthalmoplegia, but repeated Tensilon and Prostigmine tests were negative. CT scan and CSF examinations revealed neither carcinomatous metastases nor inflammatory CNS disease. The case is an exceptional example of a paraneoplastic myasthenic syndrome long confined to the oculomotor muscles.