11/107. Characteristics of breathing abnormality in Leigh and its overlap syndromes.In this report we describe the respiratory patterns of six patients with Leigh syndrome, including two individual cases with accompanying clinical phenotypes of Alpers disease and mitochondrial encephalopathy with ragged red fibers. In five cases where sleep apnea was monitored, each one showed isolated or post-sigh central apnea, hiccup, apneusis-like breathing and obstructive apnea in various combinations. The remaining patient with Alpers/Leigh overlap syndrome showed an apneusis-like pattern of dyspnea. The sleep structure was examined in three patients.Two patients with brainstem lesions showed a decrease in the deep sleep stages and an absence of REM sleep. Medullary lesions were found in four patients by magnetic resonance imaging or at autopsy and involved predominantly the dorsal respiratory group (DRG) of medullary neurons. The role of DRG lesions in the pathophysiology of respiratory symptoms in Leigh syndrome is discussed.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
12/107. Balo's concentric sclerosis. Evolution of active demyelination demonstrated by serial contrast-enhanced MRI.We report a case of Balo's concentric sclerosis with peculiar MRI findings. Unlike previously published cases all concentric rings in our case showed marked enhancement, supporting the view of synchronous active demyelination in the lesion. Follow-up MRI disclosed a change of the lesions into a confluent pattern more resembling a typical large MS plaque. There were no oligoclonal bands or intrathecal Ig-G synthesis. The hypothesis concerning the pathophysiology of the lesions' typical and peculiar morphological appearance and its relationship to multiple sclerosis are briefly discussed.- - - - - - - - - - ranking = 223450.83681287keywords = sclerosis, multiple sclerosis (Clic here for more details about this article) |
13/107. Detection of acute cytotoxic changes in progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome) using diffusion-weighted MRI and MR spectroscopy.Alpers-Huttenlocher syndrome (AHS) is a rare mitochondrial disorder of childhood onset that is characterized by progressive encephalopathy and hepatopathy. MRI studies are rare and have not added substantial information to the pathogenesis of the encephalopathy. diffusion-weighted MRI (DWI) and MR spectroscopy (MRS) were used in a patient with AHS during acute clinical deterioration and after improvement. DWI detected signal hyperintensity in several brain areas not restricted to any vascular territory. MRS revealed an unequivocal lactate peak and a reduced N-acetyl-aspartate-creatinine (NAA/Crea) ratio. DWI signal hyperintensity was correlated with neurologic symptoms and decreased after clinical improvement. Potentially reversible neuronal cytotoxic edema resulting from acute impairment of mitochondrial function is strongly suggested to be an important pathogenetic mechanism in AHS encephalopathy.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
14/107. Myelinoclastic diffuse sclerosis (Schilder's disease): report of a case and review of the literature.Schilder's myelinoclastic diffuse sclerosis is a rare demyelinating disease, which often mimics intracranial neoplasm or abscess. This disease is of importance to the neurosurgeon in that the clinical manifestations and course may closely simulate brain tumour, including the development of papilloedema and other signs of increased intracranial pressure. We have treated a 29-year-old right-handed young man presenting with left hemiplegia, aphasia and behavioural changes. magnetic resonance imaging showed two large lesions, irregular contrast-enhancing, in the subcortical white matter of the right frontal and parietal lobes, and increased intracranial pressure. Definitive diagnosis was made with biopsy. The characteristic pathological features are demyelinization of the white matter, lymphocytic perivascular infiltrates, microglial proliferation and immunohistochemical signs. The patient improved with steroid treatment. Schilder's disease constitutes an important diagnosis for any neurosurgeon to be aware of which has not received adequate coverage in the neurosurgical literature.- - - - - - - - - - ranking = 177954.3938665keywords = sclerosis (Clic here for more details about this article) |
15/107. Decompressive aspiration in myelinoclastic diffuse sclerosis or Schilder disease. Case report.This 9-year-old girl with rapidly progressive cerebral demyelinating disease presented with hemiplegia and intracranial hypertension. brain images revealed four lesions with mass effect in the subcortical white matter of both hemispheres. Demyelination was found on pathological studies of these lesions. The patient experienced some recovery with corticosteroid treatment but improved completely with decompressive aspiration of the largest lesion.- - - - - - - - - - ranking = 142363.5150932keywords = sclerosis (Clic here for more details about this article) |
16/107. Schilder's disease: case study with serial neuroimaging.Schilder's myelinoclastic diffuse sclerosis is a rare sporadic demyelinating disease that usually affects children between 5 and 14 years old. The disease often mimics intracranial neoplasm or abscess. We report a 9-year-old girl with Schilder's disease who presented with left hemiparesis. Cranial computed tomography and magnetic resonance imaging (MRI) showed large lesions in the subcortical white matter of the occipital and parietal lobes of both hemispheres that were indistinguishable from an abscess. A cerebrospinal fluid oligoclonal band test was found positive. A diagnosis of acute disseminated encephalomyelitis was then suspected. Serial MRI examinations revealed regression of parenchymal lesions, but there were new developing corpus callosum lesions. After 2 months, the patient presented with right-sided visual loss. MRI examination revealed a right optic nerve lesion. The patient had a dramatic clinical response to corticosteroid therapy. Subsequent control MRI examination revealed regression of both lesions. At 24 months of observation, the patient continued to do well without any complaints or neurologic sequelae.- - - - - - - - - - ranking = 35590.8787733keywords = sclerosis (Clic here for more details about this article) |
17/107. Sudanophilic leucodystrophy: report of a case with tigroid demyelination of the centrum ovale.A 17-year-old girl with negative familial and personal history developed a progressive neurologic disorder characterized by cortical amaurosis, metal deterioration and spastic tetraparesis. Death occurred one year after the onset of symptoms. Histopathologic examination of the C.N.S. showed the presence of extensive, discontinuous demyelination of the white matter of the centrum ovale, with preservation of perivascular myelin islets, associated with massive fat degradation, loss of axons and severe astroglial proliferation. This case belongs to the group of sudanophilic leucodystrophies, being an atypical case, a transition between pure sudanophilic leucodystrophy and the group of Pelizaeus-Merzbacher's disease.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
18/107. Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).Alpers-Huttenlocher disease (AHD) is a rare encephalopathy of infancy and childhood characterized by myoclonic seizures and progressive neurological deterioration, usually associated with signs and symptoms of liver dysfunction. There is no biological marker of the disease, and ultimate diagnosis still relies on pathological examination. Features of clinical progression and pathological findings suggest AHD to be secondary to a genetically determined disorder of mitochondrial function. We report on four AHD patients and focus on their pathological features in brain, liver and muscle. liver and muscle biopsy specimens were examined using histochemical markers of the oxidative pathways, probes to immunodetect molecules of the apoptotic cascades and electron microscopy. In liver (but not in muscle) biopsy samples, activated caspases were detected by immunohistochemistry: foci of caspase-9-positive cells were seen in a child affected with chronic, progressive fibrosis. In an 18-year-old boy, who suffered from valproic acid-associated acute hepatitis, caspase-3 cells were clustered among the necrotic foci and the foamy cells. In both patients electron microscopy revealed apoptotic nuclei. Normal muscle biopsy specimens were observed in two children, 2 and 8 years-old respectively; in the 18-year-old patient cytochrome oxidase-negative fibers as well as ultrastructural findings of mitochondrial abnormalities were observed. In no patient was there biochemical evidence of impaired oxidative metabolism. Neuropathological examination of the brains of two patients (13 months and 19 years old, respectively) showed focal distribution of the lesions affecting the telencephalic cortex and, to a lesser extent, subcortical gray nuclei. Along with the necrotizing lesions, characterized by neuronal loss, neuropil microcysts and newly formed vessels, we also observed acutely shrunken neurons and features of apoptotic cell death in the cerebral cortex only. Severe neuronal loss without necrotizing features was observed in the cerebellar cortex. The presence of both anoxic and apoptotic nuclei in brain and liver, the target tissues of the disease, is consistent with the hypothesis that abnormal activation of mitochondrion-related cell death pathways might be involved in the pathogenesis of AHD.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
19/107. Fibrinoidal leucodystrophy (Alexander's disease) at 13 months girl. A case report.The case of Alexander's fibrinoidal leucodystrophy that was presented below is an exemplar of extremely rare degenerative disease of the CNS. On the grounds of the clinical course of the disease it seems that our case can be reckoned as an early childhood form of Alexander's disease. An interesting difference that pays attention is the marked hydrocephalus. In the most cases of Alexander's disease the volume of ventricular system is normal however most of authors expresses that it sometimes can be slightly and insignificantly enlarged.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
20/107. Tumefactive myelinoclastic diffuse sclerosis--case report.A 6-year-old boy presented with mental disturbance and progressive left hemiparesis. magnetic resonance imaging demonstrated large intracranial mass lesions with ring-like enhancement. His neurological condition deteriorated rapidly. Open biopsy via craniotomy was performed under the suspicion of tumor. Histological examination showed massive demyelination and axon preservation, but no tumor cells. The diagnosis was myelinoclastic diffuse sclerosis (MDS). He was treated with high-dose methylprednisolone and improved dramatically. MDS is a rare demyelinating disorder of the central nervous system that affects mainly children and may mimic a brain tumor. MDS must be included in the differential diagnosis in young patients with a brain tumor with atypical radiological appearance.- - - - - - - - - - ranking = 177954.3938665keywords = sclerosis (Clic here for more details about this article) |
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