1/106. enzyme therapy in gaucher disease type 2: an autopsy case.A Japanese patient with gaucher disease type 2 was treated with enzyme therapy, alglucerase, from 7 to 22 months of age. Whereas hematologic parameters were normalized and hepatosplenomegaly was alleviated, no improvement in neurologic symptoms occurred, and the patient died of respiratory failure at age 22 months. Postmortem examination revealed massive intra-alveolar infiltration of Gaucher cells in lungs and in the central nervous system, i.e., the presence of Gaucher cells in the perivascular Virchow-Robins spaces in the cortex and deep white matter and extensive lamilar necrosis with reactive proliferation of blood vessels and macrophage infiltration of the cerebral cortex. It is suggested that enzyme therapy, with thus far recommended dose, does not prevent long-term respiratory and central nervous system involvement in severe varients of Gaucher disease.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/106. Successful plasmapheresis in the not-so-benign Bickerstaff's brain stem encephalitis associated with anti-GQ1b antibody.A patient with Bickerstaff's brain stem encephalitis (BBE) associated with anti-GQ1b antibody developed coma, severe weakness, and respiratory distress. The patient required ventilatory support. After having failed to improve on steroids, she was treated with plasmapheresis. She improved concomitantly with the plasmapheresis treatment and made a complete recovery. BBE associated with anti-GQ1b antibody is generally considered to be benign, and specific treatments have not been established. The results with this patient suggest that the condition is not always benign, and plasmapheresis may be beneficial in this disorder.- - - - - - - - - - ranking = 0.66936038256134keywords = brain (Clic here for more details about this article) |
3/106. Subacute onset of oculogyric crises and generalized dystonia following intranasal administration of heroin.A case is reported of a patient who experienced sudden onset of severe respiratory failure, shock and coma after first-time intranasal heroin abuse. During the following days full consciousness was restored, revealing persistent oculogyric crises, axial retropulsive dystonia and ataxia. Initially computer tomography (CT) scans of the brain were normal and cerebral spinal fluid examination showed a slight elevation of lactate. magnetic resonance imaging (MRI) scans of the brain demonstrated diffuse bilateral subcortical white matter hyperintensities, with sparing of the U-fibers, symmetric bilateral hyperintensities of the globus pallidum and very hyperintensive subcortical foci in the right hemisphere. Differential diagnostic assessment, treatment, clinical and MRI course of a 6-month follow-up are discussed.- - - - - - - - - - ranking = 0.26774415302454keywords = brain (Clic here for more details about this article) |
4/106. Fatal tetanus in a drug abuser with "protective" antitetanus antibodies.tetanus is a rare disease in the united states. From 1995-1997, the average annual incidence of tetanus was 0.15/1,000,000 population. Injecting-drug users, particularly those who use heroin, are among the highest risk population for acquiring tetanus. We present a case of an injecting-drug user who was seen in the emergency department with worsening diffuse midthoracic back pain and spasms. He subsequently developed acute respiratory failure and central nervous system hypoxic injury. serum obtained before administration of tetanus immune globulin showed a tetanus antibody titer greater than 16 times the level considered protective. Because of limited human data on the minimum protective level of neutralizing antibody, as well as reports of tetanus among individuals with "protective" antibody titers, the diagnosis of tetanus should not be excluded solely on the basis of antitetanus titers.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/106. An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22.We present four subjects from one family and one subject (with an affected sibling who had died) from a second, unrelated family, with early onset, Duchenne-like, muscular dystrophy who presented with proximal girdle weakness, calf and generalized muscle hypertrophy, selective wasting of the sternomastoid muscles, rigidity of the spine and contractures of the tendo Achilles. Intellect was normal. serum creatine kinase was grossly elevated and the muscle biopsies showed a dystrophic picture. All five subjects have developed early respiratory failure due to severe diaphragmatic involvement; two have already died aged 4 and 7 years of age and the remaining three are dependent on night time ventilation. There has been very little deterioration over time in the skeletal muscle function, and the survivors remain ambulant, the oldest being 11 years. Immunocytochemical studies of the muscle biopsy showed a normal pattern for dystrophin and the dystrophin-associated glycoproteins, but a reduction of the laminin alpha2 chain of merosin. magnetic resonance imaging of the brain was normal. The disease did not link to the LAMA2 locus for laminin alpha2 on chromosome 6q, so that these families seem to represent a new form of autosomal recessive muscular dystrophy with a secondary merosin deficiency. The primary protein deficiency has not yet been identified.- - - - - - - - - - ranking = 0.13387207651227keywords = brain (Clic here for more details about this article) |
6/106. coma and respiratory depression following the ingestion of GHB and its precursors: three cases.Gamma hydroxybutyrate (GHB) is a product of the metabolism of both gamma butyrolactone (GBL) and 1,4-butanediol (1,4-BD). Gamma hydroxybutyrate (GHB) is an illegal agent that causes central nervous system depression. Chemical precursors of GHB, such as GBL and 1,4-BD, have been available for purchase from many health food stores and internet websites for mood-enhancement, sleep-induction, and stimulation of growth hormone release. We report three cases of ingestion of products containing GHB and chemical precursors of GHB. All three patients had severe presentations followed by full recoveries. Some products containing GBL were withdrawn from the market after the FDA issued a warning regarding these products. Products containing 1,4-butanediol remain on the market today.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/106. Verve and Jolt: deadly new internet drugs.As regulatory agencies have increased restrictions on the sale and marketing of gamma-hydroxybutyrate (GHB), they have been frustrated by the appearance of precursor molecules such as gamma-butyrolactone (GBL) that have become widely available over the internet. These dangerous precursors are vigorously marketed to adolescents and young adults as dietary supplements that increase muscle mass and enhance sexual performance with seductive names such as Verve and Jolt, both easily recognizable teen icons. We present the case of an adolescent who ingested both of these GBL products 2 weeks apart, resulting in life-threatening respiratory depression and emergent intubation on both occasions. The GBL toxidrome, necessary acute interventions, and public health implications are reviewed. We urge all health care providers to report similar cases immediately to the FDA MedWatch system. Gamma-butyrolactone, gamma-hydroxybutyrate, respiratory insufficiency, central nervous system depressants, substance abuse.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/106. Development of a pulmonary phenytoin-associated hypersensitivity reaction despite concomitant dexamethasone and prednisolone administration.OBJECTIVE: This is the report about a very early onset of phenytoin hypersensitivity reaction showing respiratory insufficiency, fever, hepatic and skin reactions in a 68-year-old male patient who was concomitantly treated with high dose dexamethasone/prednisolone because of brain edema. CASE REPORT: The patient developed a hypersensitivity reaction one week after starting a phenytoin treatment, 250 mg daily intravenously, because of a focal epileptic seizure after a transsphenoidal resection of a pituitary tumor. The drug hypersensitivity was diagnosed first clinically and was confirmed by an in vitro rechallenge using the lymphocyte transformation test three months later. phenytoin itself did not stimulate the lymphocytes' proliferation. The test was performed successfully using human reference sera. CONCLUSIONS: The results suggest that protein-bound reactive drug metabolites which are assumed to occur in the sera may be responsible for the reaction. Corticosteroids did not prevent the reaction and even seem to mask laboratory and clinical findings. dexamethasone might accelerate the accumulation of potential allergotoxic epoxide metabolites. Both phenytoin and dexamethasone should be withdrawn urgently in the case of suspected hypersensitivity syndrome.- - - - - - - - - - ranking = 0.13387207651227keywords = brain (Clic here for more details about this article) |
9/106. The diagnosis of brain depression in the presence of severe multisystem disease--a case study.Brain depression in a patient with severe multisystem disease can be a diagnostic challenge, particularly when the patient is maintained on artificial life-support systems. A case report is presented of a 13-year-old girl with severe pneumonia who was treated with prolonged cardiopulmonary bypass during which time she developed a clinical picture simulating brain death with marked depression of cerebral cortical activity on two successive EEGs. Following correction of some of her metabolic defects, the patient showed marked improvement of cortical function. Multisystem disease can be so severe as to produce a clinical picture of brain death. We wish to emphasize that brain hypofunction of depression is best evaluated by both clinical examination and the EEG, and that neither one alone is sufficient to conclude that cerebral death has occurred.- - - - - - - - - - ranking = 0.93710453558587keywords = brain (Clic here for more details about this article) |
10/106. A case of central nervous system vasculitis related to an episode of guillain-barre syndrome.The authors report their knowledge about an uncommon case of isolated vasculitis, restricted to the left sylvian artery during an auto-immune guillain-barre syndrome (GBS), sustained by cytomegalovirus (CMV). An acute cardiopulmonary failure requiring a ventilator and vasopressor support manifested, notwithstanding plasma exchanging and immune-modulating therapy. An IgM-enriched formula administration coincided with a rapid amelioration of GBS and vasculitis to a complete recovery the next month after her discharge to a rehabilitation centre.- - - - - - - - - - ranking = 2keywords = central nervous system, nervous system (Clic here for more details about this article) |
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