Pain in multiple system atrophy

Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT.     

A case of cardiac sarcoidosis with remarkable atrophy of the left ventricular septum on two-dimensional echocardiography

Sarcoidosis is a multisystem granulomatous disorder of unknown etiology which mainly affects the lungs, skin, the lymphoreticular system, and the heart. We report a case of cardiac sarcoidosis in which a remarkably thin ventricular septum was demonstrated on two-dimensional echocardiography.     

Characteristics of the dysarthria of multiple system atrophy

Allergy to latex has become an increasing and clinically important problem during last years. Natural rubber latex (NRL) allergy has been acknowledged as a major occupation problem among health-care workers. More recently, NRL allergy also occurs in children with spina bifida and in atopic children. Even patients allergic to various fruits, such as banana and avocado may experience allergic reaction from NRL and vice versa. Different latex allergens have been characterized at the molecular level using varied techniques and heterogeneous latex materials. Little is known about prevalence and clinical relevance of latex sensitization and allergy in the general population although the incidence is increasing in children. The wide spectrum of symptoms of NRL allergy range from mild contact urticaria to asthma and anaphylactic reactions. History is an integral part to identify latex allergy. Different tests (skin prick tests, RAST, Pricking, Use test) have been used to objectively supplement the history. Latex allergy must be prevented by the standardization of medical gloves including the labeling of latex content and allergenicity; furthermore the industrial strategies may also develop new methods of less allergenic gloves and other NRL products.     

REM sleep behavior disorders in multiple system atrophy

We report the results of clinical and polysomnographic investigations on 39 consecutive multiple system atrophy (MSA) patients. Twenty-seven patients (69%) reported nocturnal motor paroxysmal episodes related to dreams, suggesting the clinical diagnosis of REM sleep behavior disorder (RBD). In 12 of them (44%), RBD preceded the clinical onset of the disease by more than 1 year. In seven (26%), the RBD onset was concomitant with and in eight (30%) was at least 2 years after the appearance of motor or autonomic symptoms. On polysomnographic recordings, 35 of 39 MSA patients (90%) had RBD. Other polysomnographic findings included nonclinical obstructive sleep apnea in 6 patients, laryngeal stridor in 8 patients, and periodic limb movements during sleep in 10 patients. Our data show that RBD represents the most common clinical sleep manifestation and polysomnographic finding in patients with MSA. RBD can frequently herald the appearance of other MSA symptoms by years. Extended polysomnographic montages are recommended in MSA sleep studies.     

Survival of patients with pathologically proven multiple system atrophy: a meta-analysis

A systematic review of the neurologic literature identified 433 cases of pathologically proven multiple system atrophy over a 100-year period. Earlier case reports included patients younger in age with more frequent cerebellar involvement. Mean age of onset was 54.2 years (range 31 to 78) and survival was 6.2 years (range 0.5 to 24). Survival analysis showed a secular trend from a median duration of 4.9 years for publications between 1887 and 1970 to 6.8 years between 1991 and 1994. Older age of onset was associated with shorter survival; the hazard ratio for patients with onset after 60 years was 1.8 (95% CI 1.4 to 2.3) compared with patients between 31 and 49 years. Cerebellar features were associated with marginally increased survival (6.1 years versus 5.4 years; p = 0.04). There were no difference in survival according to gender, parkinsonian, or pyramidal features or whether the patient was classified as striatonigral degeneration or olivopontocerebellar atrophy type. These results demonstrate the poor prognosis for patients with multiple system atrophy but may be biased toward the worst cases. Future research needs to recruit more representative samples.     

Consensus statement on the diagnosis of multiple system atrophy

We report the results of a consensus conference on the diagnosis of multiple system atrophy (MSA). We describe the clinical features of the disease, which include four domains: autonomic failure/urinary dysfunction, parkinsonism and cerebellar ataxia, and corticospinal dysfunction. We set criteria to define the relative importance of these features. The diagnosis of possible MSA requires one criterion plus two features from separate other domains. The diagnosis of probable MSA requires the criterion for autonomic failure/urinary dysfunction plus poorly levodopa responsive parkinsonism or cerebellar ataxia. The diagnosis of definite MSA requires pathological confirmation.     

Lewy body diseases and multiple system atrophy as alpha-synucleinopathies

BACKGROUND AND OBJECTIVES: The authors hoped to reduce the need for preoperative sedation and intravenous pain medication during cataract surgery by converting from peribulbar anesthesia to sub-Tenon's anesthesia. PATIENTS AND METHODS: A consecutive series of 2453 cataract patients' charts were reviewed. Each patient had previously watched a videotape explaining the anesthetic method to be used. Requests for preoperative sedation were compared between patients who received peribulbar or sub-Tenon's anesthesia. A sample of 200 charts of nonsedated patients were reviewed to compare intraoperative pain and motility. RESULTS: Intraoperative freedom from pain was reported by 91% of the peribulbar patients and 99% of the sub-Tenon's patients. Preoperative sedation was reduced from 26% of the peribulbar patients to 6.7% of the sub-Tenon's patients. CONCLUSIONS: Sub-Tenon's anesthesia provided excellent intraoperative pain relief and reduced the need for preoperative sedation, making it a satisfactory anesthetic technique for patients undergoing cataract phacoemulsification in an ambulatory surgery facility.     

A remarkable case of hyperventilation

We have seen a case of hyperventilation which appeared to have been caused by contact with an insecticide. Pathophysiology, epidemiology and treatment are discussed. Familiarity with the clinical symptoms greatly facilitate diagnosis, especially in emergency situations.     

An elderly case of mixed levocardia with situs inversus including inverted atria and complete transposition of the great vessels--an autopsied case

We reported on the autopsy of a 35-year-old man who had mixed levocardia with situs inversus including atrial inversion, transposition of the great vessels, and other complex cardiac malformations. Levocardia was discussed.     

Magnetic resonance spectroscopy in Parkinson's disease and multiple system atrophy

Recent advances in magnetic resonance spectroscopy(MRS) allow to assay noninvasively key molecules of brain metabolism in living patients. There are several reports of MRS in Parkinson's disease(PD) and multiple system atrophy(MSA). 1H-MRS of the striatum revealed the reduced NAA/Cr and Cho/Cr ratio in MSA patients and the preserved NAA/Cr and Cho/Cr ratio in PD patients. The reduced NAA/Cr ratio probably reflects striatal neuronal loss. 1H-MRS of the striatum showed increased Cho/Cr ratio in the "on" state compared with that in the "off" state in the PD patients. The increased Cho/Cr ratio may reflect some membrane alteration or change of choline metabolism in PD with the "wearing-off" phenomena. Although studies are still preliminary, MRS shows great possibility for aiding in the differential diagnosis of parkinsonism and it will contribute to a better understanding of the pathogenesis of PD and MSA.     

Alpha-synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy

Lewy bodies in Parkinson' s disease (PD) are strongly immunoreactive with antibodies against alpha-synuclein, which is mutated in some familial cases of the disease. We carried out immunohistochemical examinations of the brains of multiple system atrophy (MSA) patients using anti-alpha-synuclein antibodies. Strong alpha-synuclein immunoreactivity was found in glial cytoplasmic inclusions (GCIs), which are of oligodendroglial origin and occur exclusively in MSA. Alpha-synuclein-immunoreactive neuronal cytoplasmic inclusions (NCIs) were also found occasionally in the substantia nigra, pontine and inferior olivary nuclei, and dentate fascia. These findings indicate that alpha-synuclein is also a major component of GCIs and NCIs in MSA and strongly suggest that alpha-synuclein aggregation is a common process in certain neurodegenerative diseases, including PD and MSA.     

Value of sphincter electromyography in the diagnosis of multiple system atrophy

It is clinically important, to distinguish between idiopathic Parkinson's disease (IPD) and multiple system atrophy (MSA) not only because of the implications for prognosis but also because urinary incontinence is often an early troublesome feature of MSA and by making the correct neurological diagnosis inappropriate urological surgery may be avoided. Onuf's nucleus in the sacral cord is the location of the anterior horn cells innervating the sphincters, and it is among central nervous system sites affected by neuronal cell loss in MSA but not in IPD. A systematic analysis of motor units recorded from the sphincter looking for changes of chronic reinnervation has therefore been used to distinguish between these conditions. Sphincter electromyography (EMG) was carried out in 126 patients with suspected MSA with review of their case notes up to 2 years later. Of those in whom a diagnosis of MSA was made, 82% had had an abnormal sphincter EMG.     

Pseudotransitory ischemic attacks as the initial symptom of multiple system atrophy

A 59-year-old man presented with an 18-month history of episodes of visual disturbance and dysphagia in association with gait unsteadiness and leg weakness lasting between 45 and 120 min. These episodes were interpreted as vertebrobasilar transitory ischemic attacks. However, they had been preceded by impotence for 6 months. Autonomic function tests remained normal until the age of 62 years when the patient developed documented orthostatic hypotension. Parkinsonism was precipitated by neuroleptic treatment at the age of 59 years, at which time pyramidal signs were evident. The patient was unable to tolerate levodopa preparations and subsequently developed the full clinical picture of pathologically proven multiple system atrophy, dying at age 65, 7 years after his first symptom.     

An unusual case of multiple mesosternal foramina

We present an unusual example of multiple mesosternal foramina (MMF). The alignment of the paired defects is unlike any previously described. Although single sternal defects are often encountered, paired defects are quite uncommon. This is the first documented example of bilateral paired defects in the sternum.     

A case of spastic tetraplegia with medullo-cervical atrophy

A 48-year-old man, who had spastic tetraplegia and a marked atrophy of the medulla oblongata and upper cervical cord, was reported. He began to walk in spastic fashion at the age of 12 years, and was diagnosed as spastic paraplegia. His father, whose onset of the disorder was 35 years old and died of pneumonia at the age of 69 years, manifested symptoms and a course, both resembling those of the present patient. Generalized weakness progressed gradually, and the patient was confined to bed in his forties. On admission, he showed markedly increased tendon reflexes and pathological reflexes in all the extremities. Muscular weakness was severe in the neck, trunk and extremities, and mild in the facial muscles. There were neither bulbar sign, significant respiratory failure nor fasciculation of muscles. A needle EMG examination revealed no apparent neuropathic findings. MR imaging showed a marked atrophy of the medulla oblongata and upper cervical cord, which was not considered to be secondary to vascular or infectious diseases. Though sensory evoked potentials showed no response at the latencies of central nervous components, visual evoked potentials, brainstem auditory evoked response and blink reflex were normal. This case might represent an unknown hereditary degenerative disease with autosomal dominant inheritance.     

An unusual case of intracranial lipomatosis and cerebral aneurysm

An unusual combination of a fusiform aneurysm on the middle cerebral artery branch to the central region and cortical lipomatosis is described. The etiology of lipomatous disorders in the brain are multiple. The possibility of a combined dysplasia based on maldifferentiation of primitive meninges and the arterial wall is suggested in this case. Treatment consisted in uneventful, microsurgical image-guided resection of the aneurysm using the Surgiscope robotic system.