Vocal cord paralysis in the Shy-Drager syndrome.

Eight out of 12 unselected patients with Shy-Drager syndrome were found to have severe bilateral paresis of vocal cord abduction by fibre-optic laryngoscopy. This commonly presented as increased snoring followed by episodes of inspiratory and expiratory stridor and sometimes by sleep apnoea. Respiratory failure eventually developed in four cases and was reversed by tracheostomy. In another patient tracheostomy relieved severe attacks of sleep apnoea. This complication was not necessarily associated with advanced disease, and it should be considered in all patients with Shy-Drager syndrome as appropriate treatment can lead to a useful extension of life.     

The Shy-Drager syndrome (author's transl)]

The most prominent symptom of Shy-Drager syndrome is the asympathicotonic orthostatic (postural) hypotension, which is associated with a number of additional autonomic and neurological disturbances: disorders of micturition, sphincter disturbances, impotence, anhidrosis, hypokinesia, rigidity, pyramidal symptoms, cerebellar dysfunction and nuclear pareses due to anterior horn cell degeneration. The various disorders are not caused by ischemia or hypotension, but they represent parts of a multisystemic disease of still unknown etiology. According to different extension and neuropathological criteria it has been suggested to distinguish two types of neurogenic (idiopathic) orthostatic hypotension. Moreover, differential diagnosis of the Shy-Drager syndrome has to consider postural hypotension occuring as a symptom in some neuropathies and Parkinson's disease. Symptomatology, course, prognosis and treatment of Shy-Drager syndrome are described, as well as relevant findings of apparative investigations, pharmacological and hemodynamic tests and neuropathological findings in autopsied cases reported in the literature. This review was initiated by two clinically investigated cases of Shy-Drager syndrome.     

Diagnosis of carpal tunnel syndrome: electrodiagnostic and MR imaging evaluation

In clinically classic carpal tunnel syndrome (CTS) without symptoms or signs to suggest other disorders that can mimic CTS, it remains somewhat controversial as to whether performing nerve conduction studies is necessary or cost-effective. MR imaging reliably depicts normal carpal tunnel anatomy. It can also identify pathologic nerve compression and mass lesions, such as ganglion cysts, that compress nerves. Currently, MR imaging is most commonly used to image patients with ambiguous electrodiagnostic studies and clinical examinations. MR diffusion-weighted imaging of peripheral nerves might prove to be the most sensitive imaging sequence for the detection of early nerve dysfunction. Electrodiagnostic studies are likely to remain the pivotal diagnostic examination in patients with suspected CTS for the foreseeable future. With advances in both software and hardware, however, high-resolution MR imaging of peripheral nerves will become faster, cheaper, and likely more accurate, possibly paving the way for an expanded role in the diagnosis of this common syndrome.     

Selective loss of small myelinated and unmyelinated fibers in Shy-Drager syndrome

Summary The number and sizes of myelinated and unmyelinated fibers in biopsied sural nerves in cases with Shy-Drager syndrome were studied in comparison with cases with olivopontocerebellar degeneration not having autonomic dysfunction. In Shy-Drager syndrome, there was a tendency for both small myelinated and unmyelinated fiber densities to be reduced in comparison with cases with olivopontocerebellar degeneration. Unmyelinated fibers more than 0.5 m in diameter were significantly reduced in Shy-Drager syndrome, a fact suggesting unmyelinated fiber degeneration. Multilamellated Schwann cell processes, isolated Schwann cell processes, and collagen pockets were more numerous and conspicuous in cases with Shy-Drager syndrome. It was concluded that unmyelinated fibers and small myelinated fibers in the peripheral nerves were involved selectively in Shy-Drager syndrome. The significance of the findings was discussed in terms of autonomic dysfunction observed clinically.     

Alterations in [3H]spiperone binding in human caudate nucleus, substantia nigra and frontal cortex in the Shy-Drager syndrome and Parkinson's disease

[3H]Spiperone binding was investigated in the caudate nucleus, substantia nigra (s. nigra) and frontal cortex of control subjects and of patients with Parkinson's disease and the Shy-Drager syndrome. Binding sites for [3H]spiperone were interpreted as dopamine receptors in caudate and s. nigra, and as 5-hydroxytryptamine (5-HT) receptors in frontal cortex. Scatchard analysis showed that the Bmax (maximal number of binding sites) in caudate was similar in the 3 groups, whereas in s. nigra the Bmax was reduced by approximately 60% in both Parkinsons disease and Shy-Drager syndrome. The dissociation constant (Kd) for [3H]spiperone binding in s. nigra was similar in the 3 groups. In caudate nucleus, the Kd was similar in control and Parkinson groups; however, there was a significant increase in the dissociation constant in the caudate nucleus from cases of Shy-Drager syndrome. No differences in binding characteristics were observed in the frontal cortex. These results are taken to reflect a loss of dopamine receptor sites in the s. nigra in both Parkinson's disease and Shy-Drager syndrome, and a reduced affinity of dopamine receptor sites in the caudate nucleus in Shy-Drager syndrome.     

Angina pectoris with normal coronary arteries in Shy-Drager syndrome.

A patient with Shy-Drager syndrome who presented with severe angina pectoris is described. Special investigations of his autonomic nervous system showed sympathetic and parasympathetic dysfunction with supersensitive end-organ response. Sympathetic dysfunction manifested as labile hypertension, severe postural hypotension, and inadequate heart rate response to atropine and the Valsalva manoeuvre. These changes in blood pressure were accompanied by severe disabling angina pectoris. Selective coronary angiography showed normal coronary arteries. It is suggested that angina pectoris resulted from the inadequate circulatory response and is another clinical manifestation of the Shy-Drager syndrome.     

Shy-Drager syndrome presenting as depression: case report

A case of Shy-Drager syndrome (proven at autopsy) initially presented as a depressive disorder. Shy-Drager syndrome should be added to the list of subcortical neurologic disorders which may initially present with an affective disturbance.     

Shy-Drager syndrome: a case report with polysomnography

The authors report a case of Shy-Drager syndrome in a 53 year-old male patient. Autonomic failure was made evident by physical examination as well as laboratory tests. A sleep recording showed decreased percentage of REM sleep and apneas of the central type. The possible mechanisms for this sleep disorder are discussed.     

Brain stem auditory evoked potentials in patients with multiple system atrophy with progressive autonomic failure (Shy-Drager syndrome).

Brain stem potentials from three groups of patients, namely those with pure progressive autonomic failure, Parkinson's disease and multisystem atrophy with progressive autonomic failure (Shy-Drager syndrome) were compared with each other and a group of normal subjects. In virtually all the patients with multisystem atrophy with progressive autonomic failure the brain stem potentials were abnormal in contrast to normal findings with Parkinson's disease. The closely associated group of patients with progressive autonomic failure alone also revealed no abnormalities of the BAEP. This separation of the two groups, Parkinson's disease and progressive autonomic failure from multisystem atrophy with progressive autonomic failure is important clinically as multiple system atrophy of the Shy-Drager type has extra-pyramidal features closely resembling Parkinsonism or a late onset cerebellar degeneration. From the abnormalities of the brain stem response in multisystem atrophy with progressive autonomic failure, it is clear that some disruption of the auditory pathway occurs in the ponto-medullary region as in nearly all patients there is a significant delay or reduction in the amplitude of components of the response generated beyond this region. The most likely area involved is the superior olivary complex.     

Diffusion-weighted MR imaging improves diagnosis of CNS lymphomas. A report of four cases with common and uncommon imaging features

The frequency of CNS lymphomas is increasing in immunocompetent as well as in immunocompromised patients and its incidence accounts for approximately 1-2% of all primary cerebral neoplasms. It is a challenge to recognize CNS lymphomas by MR imaging as early as possible in order to dispose an optimal therapy. The aim of this report is to demonstrate, how diffusion-weighted MR imaging improves the accuracy of the differential diagnosis of CNS lymphomas.     

Shy-Drager综合征12例临床分析

目的探讨Shy-Drager综合征的临床表现和影像学特点,以便早期诊断并改善患者预后。方法回顾性分析经临床诊断的12例Shy-Drager综合征患者的相关资料。结果Shy-Drager综合征患者临床以小便障碍、直立性低血压、性功能障碍、共济失调最常见。8例患者头颅磁共振检查结果示脑萎缩,主要为小脑和脑干萎缩。结论Shy-Drager综合征临床以自主神经功能障碍为主要表现,合并小脑症状发生率高,头颅磁共振可表现为小脑、脑干萎缩。     

Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency

Isolated sulfite oxidase deficiency is a rare genetic neurometabolic disease. The first symptoms of this disorder (similar to symptoms of ischemic events) may lead to misdiagnosis and to subsequent birth of affected children in these families. This study characterizes the magnetic resonance (MR) imaging and (for the first time, to our knowledge) the MR spectroscopy features of isolated sulfite oxidase deficiency to provide a means for early and correct diagnosis. Three patients with isolated sulfite oxidase deficiency are studied who manifested intractable seizures and severe hypotonia in the immediate postnatal period with an unknown diagnosis, despite extensive workup. MR imaging and proton MR spectroscopy examinations were performed early in the neonatal period in 2 infants and after 5 months in the third infant. The prominent MR features were early cystic white matter damage, accompanied by profound cerebral atrophy in the third infant. Compared with hypoxic-ischemic disorder, MR findings in isolated sulfite oxidase deficiency demonstrate a more severe condition, without subsequent recovery. The MR spectroscopy studies indicate early onset of energetic and metabolic imbalance. Urine stick findings demonstrated high sulfite levels in 2 patients, and the final diagnosis was subsequently made based on molecular, biochemical, and genetic findings. Magnetic resonance imaging and MR spectroscopy measurements may help differentiate isolated sulfite oxidase deficiency from hypoxic-ischemic condition in patients in whom this diagnosis is not clinically suspected and may lead to further genetic antenatal inquiry that might prevent the birth of other infants affected with this severe and incurable congenital disease.     

The posterior crico-arytenoid muscle in two cases of shy-drager syndrome with laryngeal stridor

Summary The histological, histochemical and biometric findings in the posterior crico-arytenoid muscle in two patients with Shy-Drager syndrome were compared with those found in cases of carcinoma of the larynx. In biopsy specimens from the patients with laryngeal carcinoma, neurogenic atrophy and various structural changes in the muscle fibres were the prominent features. In the two patients with Shy-Drager syndrome these changes were not present and the only significant finding was the more pronounced type I fibre atrophy, with type II fibre predominance in the more severely affected case. These findings do not permit the vocal cord paralysis seen in the Shy-Drager syndrome to be explained by motorneuron loss and denervation. It is postulated that a possible cause may be a biochemical defect in the brain.     

Usefulness of functional magnetic resonance imaging and spectroscopy in the diagnosis of frontotemporal dementia

Early diagnosis of frontotemporal dementia is difficult, especially at its early stages, being mainly misdiagnosed as a psychiatric condition. The main source of uncertainty comes from the primacy of behavioral disturbances, for which sufficiently validated detection tools are not available. The increasing development of magnetic resonance (MR) techniques permits a triple approach that combines morphology, biochemistry and perfusion in the study of dementing neurodegenerative conditions. A 64-year-old male patient is described with prominent behavioral disturbances and a frontotemporal pattern of cognitive impairment. He met criteria for frontotemporal dementia. Conventional MR imaging showed minimal frontotemporal atrophy. A moderate hypoperfusion of the frontal lobes was observed in the MR perfusion study. The spectroscopy showed a decrease of the n-acetyl-aspartate peak in the medial frontal region with normal values in the medial parietal region. The whole MR imaging study aided to distinguish frontotemporal dementia from other conditions, such as brain structural processes and depression, offering relevant information for prognostic and therapeutic purposes. The usefulness of the new MR imaging techniques in the early diagnosis of dementing neurodegenerative conditions must be confirmed by larger studies accompanied by pathological material.     

Brainstem auditory evoked responses and CT findings in multiple system atrophy

Brainstem auditory evoked responses (BAERs) and CT findings were comparatively studied in 11 patients with Shy-Drager syndrome and 10 patients with olivopontocerebellar atrophy. The I-III interpeak latencies (IPLs) were prolonged in 6 patients with Shy-Drager syndrome and in 6 patients with olivopontocerebellar atrophy. Mean values of the I-III IPLs were 2.54 +/- 0.28 ms (Shy-Drager syndrome) and 2.62 +/- 0.15 ms (olivopontocerebellar atrophy). In each disease, the I-III IPLs correlated well with the degree of the pontine atrophy estimated from the CT scan. The patients with Shy-Drager syndrome could be clinically divided into two varieties. In addition to autonomic dysfunction, one variety (4 patients) was linked with parkinsonism, and the other (7 patients) with signs of multiple nervous systems involvement. Prolongation of I-III IPLs and pontine atrophy were noted in 6 out of the latters patients, whereas the former patients did not show such abnormalities. The combination of BAERs and CT scan provides useful clinical information on multiple system atrophy.     

Clinical applications of intracranial perfusion MR imaging.

Dynamic susceptibility MR perfusion imaging of the brain offers clinically relevant physiological data not obtainable by conventional MR imaging. As new treatments continue to be developed for stroke, neoplasm, dementia, psychiatric illness, headache, and trauma, the potential clinical applications of perfusion MR imaging in the diagnosis, triage, and therapeutic monitoring of these diseases will increase. MR perfusion techniques are likely to be at least as sensitive and specific as radionuclide-based techniques, and offer the added advantage of higher intrinsic resolution, convenient coregistration with conventional MR imaging, as well as, time and cost-effective imaging in patients for whom a routine MR imaging is obtained.     

Sleep-related respiratory and haemodynamic changes in Shy-Drager syndrome: a case report

Summary The sleep-related respiratory and blood pressure changes in a patient with Shy-Drager syndrome associated with the sleep apnoea syndrome are reported. Polygraphic recordings showed repeated apnoeic episodes during both sleep and wakefulness. Systemic arterial pressure values during sleep tended to be lower than in two other patients with Shy-Drager syndrome, and, unlike observations in the sleep apnoea syndrome, nocturnal swings of arterial pressure related to obstructive apnoea were markedly reduced. As a result, the total sleep time was reduced; a sleep with several features similar to REM stage was identified; during this stage the arterial pressure reached the lowest levels recorded. A review of the literature revealed that nocturnal respiratory disturbances were detectable in a high percentage of patients with Shy-Drager syndrome. We suggest that such an association is not a chance one.     

Idiopathic spinal cord herniation.

Spinal cord herniation is a rare condition that has become increasingly recognised in the last few years. The authors report a case of idiopathic spinal cord herniation in a 33 year old woman who presented with progressive Brown-Sequard syndrome. The diagnosis was made on MR imaging. After repairing the herniation the patient made a gradual improvement. Potential causes are discussed, including the possible role of dural tethering. In conclusion, idiopathic spinal cord herniation is a potentially treat able condition that should be more readily diagnosed with increased awareness and newer imaging techniques such as high resolution MRI.     

A quantitative study of intermediolateral column cells in motor neuron disease and the Shy-Drager syndrome.

The intermediolateral column neurons in the lateral horns of the grey matter of the thoracic spinal cord were counted in five patients who had died of motor neuron disease, two of the Shy-Drager syndrome and three of other neurological diseases not affecting the spinal cord or roots. The number of intermediolateral column cells in all the motor neuron disease cases was slightly reduced compared with the control cords, this difference being apparent both when the whole thoracic sympathetic outflow was assessed as well as its upper, middle and lower thirds. The difference, however, was not statistically significant. By contrast, in Shy-Drager cases there was a highly significant reduction in intermediolateral column cells compared with the normal cords.     

Pathology of Shy-Drager syndrome.

In four patients with the Shy-Drager syndrome, detailed pathological findings in the central nervous system are described. All four patients had striatonigral degeneration, olivopontocerebellar atrophy, pyramidal tract degeneration and ventral horn cell loss. Along with the multisystem degeneration, there was widespread loss of thoracolumbar autonomic neurons, which was demonstrated by comparative cell counts of the intermediolateral horns in two of the four patients. In all four patients, autonomic nuclei of the sacral cord, particularly the Onuf's and intermediolateral nuclei, were severely affected and diffuse cell loss in the nuclei seems to account for disordered bladder, rectal and sexual functions in Shy-Drager syndrome.