1/79. Autonomic failure and proximal skeletal myopathy in a patient with primary Sjogren syndrome.Autonomic failure and proximal skeletal myopathy are rare features of the Sjogren syndrome (SS). We describe a 51-year-old woman with primary SS who had development of esophageal dysmotility, urinary retention, severe orthostatism, and skeletal myopathy during a 3-month period after the diagnosis of SS. Her symptoms and signs responded well to corticosteroid therapy. Although dysfunction of the peripheral nervous system has a prevalence rate of 20% in patients with SS, most commonly the nerve dysfunction is a sensory deficit, and autonomic neuropathy is less frequent. Autonomic neuropathy due to SS may be underreported. The cause of our patient's myopathy remains undetermined. We speculate that the myopathy was due to either a form of polymyositis or an immune-mediated neuropathy with muscle involvement.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/79. biotinidase deficiency: result of treatment with biotin from age 12 years.A boy with severe symptoms of biotinidase deficiency diagnosed at the age of 12 years showed a remarkable improvement of his neurological picture and normalization of brain magnetic resonance imaging abnormalities when prescribed oral biotin.- - - - - - - - - - ranking = 0.37887520731249keywords = brain (Clic here for more details about this article) |
3/79. D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy.D-2-Hydroxyglutaric Aciduria is a rare metabolic disorder that can cause injury to the brain and other organs. This case report concerns a 14-year-old boy showing irritability and typical signs of pyloric stenosis early postnatally. From the age of 3 months he had epilepsy. He was mentally retarded, hypotonic with preserved reflexes, and dystonic. The features were dysmorphic with elongated head and high arched palate. cardiomegaly with aortic insufficiency was diagnosed. magnetic resonance imaging of the brain revealed atrophy, reduced periventricular white matter, and multiple bilateral aneurysms of the middle cerebral arteries. The boy died at the age of 14 years. autopsy confirmed the white-matter reduction of the cerebral hemispheres as well as the arterial aneurysms of the middle cerebral arteries. Lesions of a few leptomeningeal and cerebral microvessels and of the renal and pulmonary arteries were also found. There were bilateral infarcts of the kidneys and signs of cardiomyopathy with noncompensated left ventricular failure. Signs of myopathy were evident. The clinical and postmortem findings imply a disseminated mesenchymal process.- - - - - - - - - - ranking = 0.75775041462498keywords = brain (Clic here for more details about this article) |
4/79. Japanese encephalitis with movement disorder and atypical magnetic resonance imaging.With the advent of magnetic resonance imaging, brain lesions associated with Japanese encephalitis are increasingly being recognized and correlated with movement disorder. Bilateral haemorrhagic thalamic infarcts on MRI, suggested as a characteristic finding in Japanese encephalitis were conspicuous by their absence in this case report of Japanese encephalitis.- - - - - - - - - - ranking = 0.37887520731249keywords = brain (Clic here for more details about this article) |
5/79. Camptocormia treated with bilateral pallidal stimulation.The authors report the neurological, neurophysiological, and neuropsychological effects of using long-term bilateral pallidal high-frequency deep brain stimulation (DBS) in a case of disabling camptocormia. deep brain stimulation electrodes were implanted stereotactically to target the globus pallidus internus (GPi) bilaterally. Local field potentials (FPs) were recorded using the DBS electrodes and concurrent abdominal flexor electromyography (EMG) potentials during camptocormic episodes. Videotaped assessments of the movement disorder and neuropsychological evaluations of the patient before implantation and 6 months after initiation of pallidal stimulation were recorded. There was significant functional improvement following long-term pallidal stimulation, and some improvement was noted in neuropsychological scores. A temporal correlation between the GPi FPs and EMG-recorded rectus abdominis potentials was evident. There were no treatment-related adverse effects. The authors have found that long-term pallidal stimulation was safe and offered functional benefit to a patient with this severely disabling condition. The physiological studies may help further the understanding of the pathophysiology of this rare entity.- - - - - - - - - - ranking = 0.75775041462498keywords = brain (Clic here for more details about this article) |
6/79. McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.BACKGROUND: The X-linked McLeod neuroacanthocytosis syndrome is a multisystem disorder with hematologic, neuromuscular, and central nervous system (CNS) manifestations. All carriers of the McLeod blood group phenotype examined so far had at least subclinical signs of systemic involvement. STUDY DESIGN AND methods: Evaluation of two brothers carrying the McLeod phenotype with neurologic examination, immunohematology, RBC membrane protein Western blotting, analysis of XK dna sequence and rna levels, muscle histology including XK/Kell immunohistochemistry, cerebral magnetic resonance imaging (MRI), and quantified positron emission tomography (PET). RESULTS: Immunohematology and Western blotting confirmed presence of the McLeod blood group phenotype. No acanthocytosis or other hematologic anomalies were found. XK gene sequence analysis revealed a missense mutation in exon 3 (E327K). WBC XK rna levels were not decreased. There were no neuromuscular and CNS signs or symptoms. In addition, no subclinical involvement was discovered on the basis of normal muscle histology with a physiologic pattern of XK and Kell immunohistochemistry, normal cerebral MRI, and quantified PET. CONCLUSION: Known disease-causing XK gene mutations comprised deletions, nonsense, or splice-site mutations predicting absent or truncated XK protein devoid of the Kell-protein binding site. Although the E327K missense mutation was associated with the immunohematologic characteristics of McLeod syndrome, the mutated XK protein seemed to be largely functional. These findings contribute to the understanding of the physiology of XK and Kell proteins, and the pathogenetic mechanisms of acanthocytosis, myopathy, and striatal neurodegeneration in McLeod syndrome.- - - - - - - - - - ranking = 2.1987967218656keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/79. Warning signs of imminent respiratory failure in neurological patients.Critically ill neurological patients often need ventilatory assistance. After acute central nervous system insults, the inability to protect the airway and impaired central respiratory drive can only be managed with endotracheal intubation and mechanical ventilation. In patients with acute or worsening neuromuscular disorders, diaphragmatic failure and pronounced bulbar weakness may necessitate intubation to assist in the work of breathing or to prevent upper airway obstruction. Simple respiratory function tests performed at the bedside should be used to monitor patients with progressive neuromuscular respiratory insufficiency. Noninvasive positive pressure ventilation plays an important role in the management of respiratory failure in patients with neuromuscular respiratory failure, and its indications may be expanded in the future.- - - - - - - - - - ranking = 2.1987967218656keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/79. An autopsy case of late infantile and juvenile neuroaxonal dystrophy with diffuse lewy bodies and neurofibrillary tangles.The clinical and pathological features of a sporadic case of juvenile neuroaxonal dystrophy beginning at the age of 10 and leading to death at the age of 26 are described. Clinical manifestation began with cerebellar symptoms. The subject subsequently developed dementia, pes cavus (Friedreich's feet), epilepsy, myoclonus, and Parkinsonian syndrome, but demonstrated neither tremor nor choreoathetoid movement. Pathological examination showed typical generalized axonal dystrophy throughout the central nervous system (Seitelberger's disease). iron-positive pigmentation was seen in the pallidonigral system, diffuse lewy bodies (brainstem type and cerebral type) were demonstrated in the brainstem nuclei and cerebral cortex, and neurofibrillary tangles were observed.- - - - - - - - - - ranking = 2.9565471364906keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
9/79. Involvement of the larynx in a congenital "myopathy", unilateral aplasia of the arytenoid, micrognathia, and malformation of the brain--a new syndrome?Neuromyopathic changes were found in various limb muscles and in intrinsic laryngeal muscles of a two month old girl. She had been noted to have micrognathia, arthrogryposis and congenital stridor and died as a result of respiratory insufficiency and aspiration. autopsy revealed an absent left arytenoid cartilage and severe histogenic abnormalities of the brain. Although the muscles involved showed a mainly myopathic pattern, marked signs of peripheral neurogenic involvement were present. These differed from motor neuron disease or aplasia of anterior horn cells. These findings cast a new light on the discussion of unclassified congenital myopathy resembling the picture of congenital muscular "dystrophy". This is the first case of congenital neuromyopathy in which involvement of intrinsic laryngeal muscles has been demonstrated morphologically.- - - - - - - - - - ranking = 1.8943760365625keywords = brain (Clic here for more details about this article) |
10/79. Ferritinopathy: diagnosis by muscle or nerve biopsy, with a note on other nuclear inclusion body diseases.Ferritinopathy (neuroferritinopathy) has recently been identified as an autosomal dominant, multisystem disease, mainly affecting the central nervous system. It is caused by mutations in exon 4 of the ferritin light chain gene on chromosome 19. Its fine structural hallmarks are granular nuclear inclusions in neurons, oligodendroglial and microglial cells with similar extracellular derivatives in the central nervous system, muscle, peripheral nerve, and skin. These pathognostic structures have previously been described in perivascular cells of muscle and nerve biopsy specimens in a case with an obviously identical disease, formerly described as 'granular nuclear inclusion body disease'. The nuclear inclusions, at the light microscopic level, are iron positive following histochemical iron reactions and immunoreactive for ferritin antibodies. At the electron microscopic level, in contrast to filamentous nuclear inclusions in 'neuronal intranuclear hyaline inclusion disease', dominant spinocerebellar atrophies and other trinucleotide repeat diseases, they are basically composed of granules measuring 5-15 nm. A moderate peak of iron detectable by energy dispersive microanalysis of the granular nuclear inclusions in ferritinopathy may also be significant. It is emphasized that ferritinopathy or 'granular nuclear inclusion body disease' can be diagnosed by a simple muscle or nerve biopsy without brain biopsy, autopsy, or molecular genetic testing of the considerable number of neurodegenerative diseases with possibly similar symptomatology.- - - - - - - - - - ranking = 4.7764686510437keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
| | Next -> |