1/232. thrombosis related to the use of L-asparaginase in adults with acute lymphoblastic leukemia: a need to consider coagulation monitoring and clotting factor replacement.L-asparaginase (L-asp) has become an important component of combination chemotherapy for acute lymphoblastic leukemia (ALL). However, L-asp can produce depletions in many of the clotting factors with an associated risk for thrombosis and hemorrhage. Three consecutive patients seen at the Mayo Clinic with L-asp related thrombosis are described and an in-depth review of the literature is provided. Two of the 3 patients developed central nervous system (CNS) complications with evidence of thrombosis and hemorrhagic infarction. Two of the patients also developed extensive upper extremity thrombosis. The results of comprehensive hemostatic surveys showed marked abnormalities in all 3 patients. Many of the thrombotic complications related to L-asp involve the CNS, as illustrated in 2 of our patients. These patients should be treated aggressively since full recovery is possible. The precise cause of thrombosis is yet to be determined but is likely multifactorial. The optimal treatment and prevention of thrombosis in this group of patients remains poorly defined.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
2/232. E.N.T. manifestations of Von Recklinghausen's disease.Von Recklinghausen's disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and treatment. The most common intracranial tumor in the adult is the acoustic neuroma, usually bilateral, while in the child it is the astrocytoma. A defect in the sphenoid bone is common and may produce temporal lobe herniation into the orbit causing pulsatile exophthalmos. Involvement of the facial bones usually causes radiolucent defects secondary to neurofibromata within nerve pathways, and a variety of asymmetrical changes, especially within the mandible. "elephantiasis" of the face is a hypertrophy of the soft tissues overlying a neurofibroma, often quite extensive and disfiguring. Laryngeal and neck involvement may compromise the airway and early and repeated surgical intervention is required. The over-all malignancy rate approaches 30%, indicating that the patient with VRD may be predisposed to developing a malignancy. There appears to be an increased surgical risk in these patients, with some demonstrating abnormal responses to neuromuscular blockade.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
3/232. fatal outcome due to cyclosporine neurotoxicity with associated pathological findings.We present a case of death likely to be directly due to cyclosporine (CsA) neurotoxicity. To date, there have been no reports of deaths directly due to CsA neurotoxicity, nor has an associated histological lesion been described independent of confounding processes. A 54-year-old male received an HLA-matched-unrelated BMT for CML. He developed progressive encephalopathy and on day 79 had a generalized seizure. All CSF studies were negative for infectious causes. MRI revealed diffuse, symmetrical white matter abnormalities located in the occipital sub-cortex, thalamus, mid brain, pons, and cerebellum which were typical of CsA toxicity. The patient died of central respiratory failure within 72 h of discontinuing CsA. autopsy revealed diffuse patchy white matter edema and astrocytic injury without evidence of axonopathy, demyelination, microvascular injury, or infectious/inflammatory process. This case demonstrates previously undescribed lethal CsA neurotoxicity and may reveal an associated primary pathological lesion.- - - - - - - - - - ranking = 3.8293636244024keywords = death, rate (Clic here for more details about this article) |
4/232. central nervous system sarcoidosis--diagnosis and management.A series of 68 patients with neurosarcoidosis is reported, with particular emphasis on clinical aspects, diagnosis and treatment. A classification system based on clinical diagnostic probability is proposed, consisting of probable and definite disease, the latter being dependent on finding sarcoid granulomas on nervous system histology, which was obtained in 12 patients (18%). The role of investigations, including magnetic resonance imaging (MRI), chest radiography, Kveim skin test, gallium 67 isotope scanning and cerebrospinal fluid (CSF) studies, is considered. Sixty-two percent of patients presented with nervous system disease, most commonly affecting the optic nerve and chiasm. Other common presentations included cranial nerve palsies, spinal cord and brainstem manifestations. Investigations yielding most diagnostic information included the kveim test (41/48, 85% positive), raised CSF protein and/or cells (50/62, 81%) and gallium 67 scan (14/31, 45%). Eleven out of 29 patients (38%) patients showed meningeal enhancement on MRI scanning and 43% of scans demonstrated multiple white-matter lesions. Mean follow-up for the group was 4.6 years. Forty-seven patients were seen for > 18 months, and over half of these patients progressed despite corticosteroid and other immunosuppressive therapies. The benefit of a large patient database prospectively studied, with extended follow-up is discussed in order to learn more about prognosis and advance therapy in neurosarcoidosis.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
5/232. CNS sjogren's syndrome: an underrecognized and underappreciated neuropsychiatric disorder.sjogren's syndrome is a common medical condition that may produce psychiatric symptoms. Untreated deficits can become permanent, sometimes resulting in death. The hypothesized mechanism involves CNS vasculitis. Psychoactive medications treat psychiatric symptoms but leave the underlying medical process unaffected. Laboratory tests to diagnose sjogren's syndrome and specific treatments for this condition are improving.- - - - - - - - - - ranking = 1.4146818122012keywords = death (Clic here for more details about this article) |
6/232. Left atrial myxomas presenting with right hand weakness.A 63-year-old man with multiple left atrial myxomas presenting with right hand weakness is described. Two-dimensional echocardiography obtained during the evaluation for his stroke showed a large left atrial mass. At surgery, two separate left atrial myxomas were excised. pathology confirmed the diagnosis. Although left atrial myxomas are uncommon, they should be included in the differential diagnosis of stroke, especially in patients who present without cardiovascular or cerebrovascular risk factors. The absence of cardiac symptoms and signs does not rule out a cardiac myxoma.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
7/232. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.- - - - - - - - - - ranking = 5.6587272488049keywords = death (Clic here for more details about this article) |
8/232. Acute dilated cardiomyopathy and central nervous system toxicity following propranolol intoxication.OBJECTIVE: We report a case of a 16-year-old boy who developed central nervous system (CNS) depression and acute dilated cardiomyopathy following ingestion of 3200 mg of propranolol in a suicide attempt. Early echocardiographic findings were the only sign of cardiac toxicity. DESIGN: A case report. SETTING: Pediatric intensive care unit of a teaching hospital. RESULTS: This child developed significant acute dilated cardiomyopathy and severe CNS depression 2 hours after ingesting 3200 mg of propranolol. The child was treated with gastric lavage, activated charcoal, and mechanical ventilation. Following the echocardiographic findings, treatment with isoprenaline hydrochloride and glucagon were given intravenously. Echocardiographic examination 12 hours following treatment showed normal left ventricular size and function. No change in pulse rate or blood pressure was reported on admission and during his hospitalization. DISCUSSION: In the early stages of propranolol and other lipophilic beta-blocker intoxication, severe CNS depression can develop in the absence of clinical signs of cardiac toxicity. Early echocardiographic evaluation is important and may prevent delay in diagnosis and treatment of cardiac toxicity.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
9/232. Primary sjogren's syndrome with severe central nervous system disease.OBJECTIVE: central nervous system (CNS) involvement in primary sjogren's syndrome (pSS) is controversial with regard to frequency, significance, and etiology. methods: We describe a young woman with pSS and severe CNS disease and review the literature on the pathophysiology, clinical significance, symptoms, diagnostic examinations, and treatment of CNS disease with concomitant pSS (CNS-SS). RESULTS: Our patient with pSS had a 5-month history of benign lymphadenopathy and myositis, after which she developed severe CNS disease, vasculitic lesions on her hands, and a neurogenic bladder attributable to spinal cord involvement. The diagnosis was based on the clinical picture and the results of a brain magnetic resonance imaging (MRI) scan, electroencephalography (EEG), and cerebrospinal fluid (CSF) analysis. The disease did not respond to corticosteroids, but the administration of cyclophosphamide resulted in recovery. In the literature, the incidence of CNS-SS varies widely, from rare to incidence rates of 20% to 25%. The clinical picture is diverse, ranging from mild cognitive symptoms to fatal cerebrovascular accidents. The pathophysiology of CNS-SS is unclear, specific diagnostic methods are not available, and diagnosis is based on the clinical picture and a combination of examinations. MRI is the most sensitive test and cerebral angiography the most specific. CSF reflects involvement of the leptomeninges, and EEG is nonspecific. There are no controlled studies of the treatment of CNS-SS. Regimens for vasculitis are commonly used. CONCLUSIONS: CNS-SS is uncommonly recognized and difficult to diagnose. Increasingly accurate and available diagnostic examinations will yield more information about the association of CNS disease with pSS.- - - - - - - - - - ranking = 2keywords = rate (Clic here for more details about this article) |
10/232. Neurologic nonmetabolic presentation of propionic acidemia.BACKGROUND: patients with propionic acidemia usually present in the neonatal period with life-threatening ketoacidosis, often complicated by hyperammonemia. It was thought that the neurologic abnormalities seen in this disease were exclusively the consequences of these acute crises. Experience with 2 patients with propionic acidemia indicates that this disease may present first with prominent neurologic disease without the life-threatening episodes of ketoacidosis that usually serve as the alerting signals for a diagnosis of an organic acidemia. OBJECTIVE: To examine the clinical and metabolic aspects of 2 patients with a phenotype that suggested disease of the basal ganglia. DESIGN: Examination of patterns of organic acids of the urine and enzyme assay for propionyl-CoA carboxylase in fibroblasts and lymphocytes. SETTING: Referral population to a biochemical genetics laboratory. patients: Two patients whose prominent features were hypotonia followed by spastic quadriparesis and choreoathetosis. Both had seizures. One patient was mildly mentally retarded but grew normally physically. The other had profound mental retardation and failure to thrive; he also self-mutilated his lower lip. self-injurious behavior has not been reported in this disease. MAIN OUTCOME MEASURES: Clinical description, blood ammonia levels, organic acid levels in the urine, and enzyme activity. RESULTS: Excretion of metabolites, including methylcitrate, was typical. Residual activity of propionyl-CoA carboxylase approximated 5% of the control in each patient. CONCLUSIONS: propionic acidemia can present as a pure neurologic disease without acute episodes of massive ketoacidosis. hyperammonemia may occur after infancy in some patients, presenting as reye syndrome.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
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