Peripheral neuromuscular manifestations in systemic sclerosis (scleroderma)

Systemic sclerosis (scleroderma) is thought to be the least likely of the collagen vascular disorders to cause nervous system damage. We evaluated the peripheral neuromuscular manifestations in 32 patients with scleroderma. A clinically defined peripheral nervous system (PNS) lesion was manifest in 5 of 32 patients (16%), including 2 patients with trigeminal neuropathy and single cases of polyneuropathy, brachial plexopathy, and lumbosacral radiculopathy. Neurophysiological studies suggested subclinical PNS involvement in 6 additional patients (3 with distal axonal polyneuropathy, 1 with probable myopathy and superimposed polyneuropathy, 1 with trigeminal neuropathy, and 1 with focal ulnar neuropathy). Even though subjective muscular complaints were numerous (16 patients, 50%), a defined primary muscular disease could be demonstrated only in 5 patients (16%). Our results indicate that peripheral neuropathy in scleroderma is not as uncommon as previously estimated. © 1993 John Wiley & Sons, Inc.     

Central nervous system involvement in systemic lupus erythematosus

Three cases are presented, in two of which the CNS lesions revealed the presence of systemic lupus erythematosus (SLE). The diagnosis of SLE was certain according to the criteria of the ARA, and it was further confirmed by results of renal needle puncture biopsy. Case 1: A 16-year-old adolescent developed choreic movements followed, one month later, by psychotic symptoms suggesting a mixed hebephrenic-catatonic schizophrenic affection. Cutaneous lesions and signs of renal insufficiency 3 months later established that these disorders were related to SLE. A favourable outcome was observed rapidly for the systemic signs, recovery from neuropsychic symptoms being obtained after 3 months only but then in a few days. This course suggests the diagnosis of a "functional psychosis" of lupus origin. Case 2: A 24-year-old woman developed left hemiparesis followed by febrile coma. The slowly favourable course of the disease led to the appearance of a progressive dementia, with numerous epileptic seizures. Although tests for antinuclear antibodies were negative and the ESR was normal, several minor biological anomalies were suggestive of a systemic disease and the diagnosis of SLE was finally established. Corticotherapy produced only slight transient improvement. This progression towards dementia with progressive cerebral atrophy is most probably related to cerebral lupus lesions, the initial coma in the absence of any other apparent cause possibly being the first sign. Case 3: A 47-year-old woman developed simultaneously or separately episodes of arthralgia and uveitis of unknown origin over a 12-year period, and attacks of regressive multilocular neurological deficiency over a 15-year period.(ABSTRACT TRUNCATED AT 250 WORDS)     

Central nervous system vasculitis secondary to systemic sclerosis

Systemic sclerosis (SSc) or scleroderma is a connective tissue disease with a diverse array of clinical manifestations secondary to underlying fibrosis and autoimmunity. Central nervous system (CNS) impairment is uncommon in SSc. Here we report the fourth known patient with CNS vasculitis caused by SSc. In each previous report, the patient was a middle-aged to elderly female. Our patient was 24 years old at the time of presentation, significantly younger than the other reported patients. Importantly, our patient’s rapidly progressive clinical course and poor response to immunosuppression have not been reported in patients with CNS vasculitis secondary to scleroderma. Although CNS vasculitis is extremely rare in SSc, our report suggests that clinicians should consider this diagnosis in the differential of SSc patients with neurologic impairment.     

Central nervous system involvement in systemic connective tissue diseases

Systemic connective tissue diseases can affect the brain, meninges, spinal cord, cranial and peripheral nerves. Different pathogenic mechanisms, particularly autoantibody or T-cell mediated lesions, appear to be involved. The neurological manifestations of the connective tissue diseases and their diagnostic possibilities including newer imaging techniques are reviewed. Early recognition of neurological abnormalities can help in the differential diagnosis and in defining the underlying disease in order to initiate treatment and prevent progression of lesion or cognitive function loss.     

Central nervous system and skeletal muscle involvement in systemic candidiasis

Summary Two necropsy cases of systemicCandida albicans infection with involvement of the kidney, lung and brain are reported. Both patients died from renal failure. In the brain there was a miliary spread of microabscesses and granuloma-like lesions, and Candida was evident within both types of lesion. In case 2, there was additional involvement of skleletal muscle and diaphragma with focal-grouped and single-scattered necrotic muscle fibres and small granulomas containing fungus elements accompanied by mild neurogenic atrophy of skeletal muscle due to uremic neuropathy.     

Sleep disruption in systemic sclerosis (scleroderma) patients: clinical and polysomnographic findings

BACKGROUND: Progressive systemic sclerosis (SSc) is a connective tissue disease characterized by endothelial lesions and fibrosis of the skin and other organs. Patients' quality of life and life expectancy are determined by the intensity of pulmonary, esophageal, cardiac, and renal involvement. Neurological involvement was considered to be rare, but increasing evidence indicates that peripheral and autonomic neuropathies commonly occur. Conditions seen with SSc, such as pulmonary fibrosis and gastro-esophageal reflux, have the potential to affect sleep. No systematic assessment of sleep-related problems associated with this disorder has been performed. MATERIAL AND METHODS: An all-night polysomnogram and a clinical interview blinded to sleep status were obtained for 27 consecutive SSc patients. Sleep data were compared to age adjusted published normative values. Correlations were determined for sleep and clinical data. RESULTS: Patients with SSc had a reduced sleep efficiency (SE) (mean+/-SD: 82+/-12.3%) and rapid eye movement sleep (13.1+/-5.6%) and increased arousal index (26.1+/-13.0) and slow wave sleep (25.7+/-9.7%). The periodic leg movement index (PLMI) exceeded 5/h in 13 patients (48%) and 25/h in seven patients. Six patients had restless legs syndrome (RLS). Significant disordered breathing was absent. The RLS patients showed a greater arousal index than all other patients. PLMI was correlated with SE for RLS but not for non-RLS patients. Esophageal dyskinesia, dyspnea, and RLS were significantly associated with poor sleep. CONCLUSION: Patients with SSc have significant disturbance of their sleep. Esophageal dyskinesia and dyspnea, which are common complications of SSc, were commonly associated with indices of sleep disruption. RLS but not sleep apnea appears to have an increased prevalence in SSc.     

Central nervous system involvement in systemic diseases: Spectrum of MRI findings

Central nervous system (CNS) involvement in systemic disease (SD) is unusual. MRI features of such lesions are unfamiliar to most radiologists. The diagnosis of SD is still based on clinical features and laboratory findings but some characteristic MRI findings exist for each SD: micronodular leptomeningeal enhancement in sarcoidosis, diffuse or focal pachymeningeal involvement in Wegener disease, dentate nuclei and brain stem lesions in Langerhans cell histiocytosis, meningeal masses, dentate nuclei lesions and periarterial infiltration in Erdheim-Chester disease, meningeal masses in Rosai-Dorfman disease, veinular pontic lesions and cerebral vein thrombosis in Beh?et, supratentorial microvascular lesions in lupus and antiphospholipid and Gougerot-Sj?gren syndrome. In this work, we explain, describe and illustrate the most characteristic MRI findings for each disease.     

Central nervous system tuberculosis: imaging manifestations

Tuberculosis of the brain is a disease of pathologic complexity and clinical subtlety-characteristics that manifest in the radiologic presentation of the disease and may make the task of interpreting radiologic data difficult. Much of the difficulty, however, reflects differences between the pathologic processes of tuberculosis and other infective diseases of the brain, and once these differences are appreciated, interpreting radiologic images becomes clearer.     

Progressive systemic sclerosis and nervous system involvement. A review of 14 cases

Nervous system involvement in progressive systemic sclerosis (PSS) has been considered rare compared to other collagen diseases. We present 14 additional cases of PSS with neurological manifestations. Primary involvement of the peripheral nerves could be detected in 4 of 14 patients and is documented by electromyo- and electroneurographical examinations. Central nervous system (CNS) manifestations directly related to PSS are a rarity, which may reflect the lack of collagen in the brain, histological differences between cerebral and other arteries and the immunological particularity of the brain. There may have been a direct relationship between CNS involvement and PSS in only one patient presenting with an overlap-syndrome.     

Peripheral nervous system involvement in multiple sclerosis

Objective: To investigate possible peripheral nervous system (PNS) affection in patients with multiple sclerosis (MS) by standard nerve conduction velocity (SNC) and pain‐related evoked potentials (PREP), a novel electrophysiological method for diagnosing small fibre neuropathy. Background: Former neuropathological and electrophysiological studies demonstrated subtle PNS affection in MS, but routine measurements are mostly normal. Small fibre polyneuropathy is associated with several autoimmune diseases but has not been investigated in MS yet. Design/Methods: Fifty‐four patients with MS (43 relapsing–remitting, 11 secondary progressive MS) underwent SNC of the tibial, sural and peroneal nerve. Twenty‐one patients additionally underwent PREP. Results: SNC abnormalities were observed in 29.6% of all patients and 14.2% of all nerves examined No abnormalities on PREP were found. Conclusions/Relevance: We demonstrated subtle alterations on routine electrophysiological measurements in patients with MS without hints for small fibre pathology.     

多发性硬化的周围神经系统损害

目的 探讨多发性硬化（MS）患者合并周围神经系统（PNS）损害的临床及肌电图特点。方法 回顾性分析14例MS合并PNS损害的临床及肌电图资料。结果 MS合并PNS损害的发生率为12．5％,其临床表现主要为末梢型或神经型根型感觉障碍、根性疼痛、肌肉萎缩,周围神经受损较神经根受损常见。PNS损害并不是每次发病都出现,出现时间较早、持续时间较短,不影响的疾病的病程及患者的功能障碍。肌电图上表现为存在纤颤波、正锐波,轻收缩时波幅增高、时限延长,感觉神经传导速度减慢,末端运动潜伏期延长,神经电位波幅降低,F波潜伏期延长等。结论 MS患者确实可能有PNS损害,出现PNS损害不影响患者的预后,常随着病情的好转很快恢复。     

Review: Central nervous system involvement in mitochondrial disease

Mitochondrial respiratory chain defects are an important cause of inherited disorders affecting approximately 1 in 5000 people in the UK population. Collectively these disorders are termed ‘mitochondrial diseases’ and they result from either mitochondrial DNA mutations or defects in nuclear DNA. Although they are frequently multisystem disorders, neurological deficits are particularly common, wide‐ranging and disabling for patients. This review details the manifold neurological impairments associated with mitochondrial disease, and describes the efforts to understand how they arise and progressively worsen in patients with mitochondrial disease. We describe advances in our understanding of disease pathogenesis through detailed neuropathological studies and how this has spurred the development of cellular and animal models of disease. We underscore the importance of continued clinical, molecular genetic, neuropathological and animal model studies to fully characterize mitochondrial diseases and understand mechanisms of neurodegeneration. These studies are instrumental for the next phase of mitochondrial research that has a particular emphasis on finding novel ways to treat mitochondrial disease to improve patient care and quality of life.     

Central nervous system involvement in blue-rubber-bleb-nevus syndrome

The blue-rubber-bleb-nevus syndrome is an uncommon neurocutaneous disorder where scattered, bluish, rubbery nevi occur on the body surface. These nevi are frequently noticeable at birth. In addition to the skin lesions, vascular malformations of internal organs, which tend to bleed, are frequently present. However, well-documented central nervous system angiomata are rarely encountered. We present herein the case of a young adult with central nervous system involvement. Patient presented with a slowly progressive ataxia and brain stem signs. A large posterior fossa, and multiple smaller hemispheric angiomata were noted. Only a very few well-described symptomatic cases have been reported in the literature; we have reviewed them here. Unlike these cases, our patient with extensive nervous system involvement had a chronic, slowly progressive and nonfatal course.     

Central nervous system involvement in nephropathic cystinosis

Nephropathic cystinosis, an autosomal recessive lysosomal storage disorder due to impaired cystine transport, causes damage to multiple organs that results in end-stage renal disease, hypothyroidism, and retinopathy, usually in childhood. Dialysis and renal transplantation now frequently enable patients with cystinosis to live into adulthood. Examinations at autopsy of a 28-year-old man who died of complications of this disease showed deposits of cystine crystals in multiple organs. There was severe cerebral involvement with multifocal cystic necrosis, dystrophic calcification, spongy change, and vacuolization that had produced profound neurologic deficits. Electron microscopy of the brain documented cytoplasmic deposition of cystine crystals in membrane bound vacuoles within the cytoplasm of pericytes and within parenchymal cells of the white matter. While affected patients who have received renal transplants may no longer die from renal failure, serious, potentially life-threatening, neurologic complications of this disorder may supervene.