1/38. Deletion (9) (p13.1 p21.1).We report on a 22-month-old girl with minor facial anomalies, global developmental delay, growth retardation, seizures, and leukoencephalopathy. Initial clinical assessment suggested the diagnosis of williams syndrome. Results of fluorescence in situ hybridization testing for elastin were normal. However, chromosome analysis showed a 46,XX,del(9)(p13.1p21.1) karyotype in peripheral lymphocytes. Parental chromosomes were normal, indicating a de novo deletion. This patient's manifestations are compared with those of two other cases with overlapping deletions of the proximal short arm of chromosome 9.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
2/38. Evidence for hypomethylation in two children with acute lymphoblastic leukemia and leukoencephalopathy.BACKGROUND: The prognosis of patients with acute lymphoblastic leukemia (ALL) in childhood has improved with intensive chemotherapy. In particular, central nervous system (CNS) leukemia has been well controlled by the presymptomatic administration of intrathecal methotrexate (MTX), high dose systemic MTX, and irradiation. However, the prolonged intrathecal administration and/or the administration of high doses of systemic MTX, especially when combined with irradiation, can lead to leukoencephalopathy (LE), a serious CNS complication of such prophylaxis. Because the mechanisms by which MTX causes this complication have not been elucidated, the authors investigated the transmethylation status of the cerebrospinal fluid (CSF) in two children with ALL and LE to investigate the pathophysiology of that disorder. methods: The levels of s-adenosylmethionine (SAM) and s-adenosylhomocysteine (SAH) were measured in the CSF of 2 children with ALL and LE, 7 children with ALL only who were undergoing presymptomatic administration of MTX, and 18 reference children in whom diagnostic lumbar puncture was indicated for other reasons. A sensitive, high performance liquid chromatography (HPLC) method was used with fluorescence detection. RESULTS: The concentrations of SAM in the CSF were lower in the patients with ALL during treatment with MTX compared with the reference children. The SAM levels in the 2 patients with both ALL and LE were slightly lower than the levels in the 7 patients with ALL only. The SAH concentrations in the CSF were higher in the patients with ALL and LE compared with the patients with ALL only and the reference children. The mean concentration of SAH in the CSF was similar in the reference children to that found in the 7 patients with ALL only. The SAM-to-SAH ratios were lower in the 2 patients with ALL and LE and in the 7 patients with ALL only compared with the reference children. The ratios in the patients with ALL and LE were still lower than in those with ALL only, thus providing supporting evidence of hypomethylation in the 2 patients with ALL and LE. CONCLUSIONS: The data suggest that the treatment of children with ALL using MTX causes subclinical hypomethylation and that progressive hypomethylation in the CNS, as evidenced in the 2 patients with ALL and LE, may be responsible for the demyelination in the LE induced by MTX.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
3/38. siblings with cystic leukoencephalopathy and megalencephaly.Cystic leukoencephalopathy with megalencephaly is a newly described entity with mild clinical involvement. patients suffer from developmental problems and seizures in childhood. Progression is gradual into adulthood. Typical magnetic resonance imaging findings include subcortical cysts and diffuse leukoencephalopathy. The etiology is unknown with possibly autosomal-recessive inheritance. We present two pairs of siblings with this disease and emphasize the characteristic and variable patterns even within the same family.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
4/38. Gabapentin for treatment of behavioral and psychological symptoms of dementia.OBJECTIVE: To report the use of gabapentin in the treatment of behavioral and psychological symptoms of dementia (BPSD) and to review the available literature relating to the use of gabapentin in this population. CASE SUMMARY: A 62-year-old white man was admitted to the hospital due to a worsening state of confusion, anxiety, depressed mood, insomnia, and verbal and physical aggressiveness toward his wife. He had a past medical history significant for vascular dementia. He had been intolerant of or had failed to respond to numerous antidepressants, benzodiazepines, and neuroleptics. The addition of gabapentin to the patient's medication regimen resulted in reduced agitation, sexual inappropriateness, and lability. He was discharged to his home on a dose of gabapentin 300 mg three times daily. DATA SOURCES: A medline search (1966-August 2000) was performed to identify case reports and clinical trials discussing the efficacy of gabapentin in the treatment of BPSD. DISCUSSION: Gabapentin, like other anticonvulsants, has been used with success in several psychiatric illnesses. Available literature indicates that the drug may have some efficacy in the treatment of BPSD. It has a favorable adverse effect profile in the elderly, which makes it an attractive altemative to standard therapies, including benzodiazepines and neuroleptics. Optimal dosing remains unclear. CONCLUSIONS: This case suggests that gabapentin is a reasonable alternative therapy for patients whose behavioral symptoms do not respond to conventional agents.- - - - - - - - - - ranking = 6keywords = ms (Clic here for more details about this article) |
5/38. Reversible posterior leukoencephalopathy syndrome in a patient with hypertensive encephalopathy--case report.A 58-year-old male presented with reversible posterior leukoencephalopathy syndrome (RPLS) manifesting as headache, papilledema, and renal hypertension. T2-weighted magnetic resonance (MR) imaging showed hyperintensity lesions in the medulla, pons, bilateral thalami, and bilateral deep white matter of the parieto-occipital lobes. The pons was swollen. diffusion-weighted MR imaging did not show increased intensity in these lesions. The lesions disappeared with improvement of clinical symptoms after treatment for hypertension. These findings suggested the lesions were vasogenic edema and the diagnosis was RPLS. T2-weighted and diffusion-weighted MR imaging are useful modalities to differentiate RPLS from other central nervous system abnormalities such as infarction, multiple sclerosis, and central pontine myelinolysis. The clinical and neuroradiological findings of RPLS can be reversed by timely initiation of treatment for the causative factor.- - - - - - - - - - ranking = 215.69876737048keywords = multiple sclerosis, sclerosis, ms (Clic here for more details about this article) |
6/38. siblings with development delay, mild spasticity and subcortical cysts: a further leukoencephalopathy?We present a family with mild neurological symptoms and intra-cerebral subcortical cysts on magnetic resonance imaging (MRI). Common clinical features are microcephaly, learning difficulties, spasticity, dyspraxia and restricted movements of the neck and shoulder. The family has features in common with vacuolating leukoencephalopathy of van de Knaap and Olivier and may represent a new variant.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
7/38. Primary antiphospholipid syndrome presenting as pseudobulbar palsy in a young male.Antiphospholipid antibody syndrome (APS) is now recognized as an important risk factor for young stroke. Recurrent stroke seems to be common in patients with APS and a first stroke, recurrent stroke and vascular dementia are feared consequences of APS. We are reporting a case of primary APS with recurrent stroke presenting as pseudobulbar palsy in an young man.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
8/38. Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency.A deficiency of succinate dehydrogenase is a rare cause of mitochondrial encephalomyopathy. Three patients, 2 sisters and 1 boy from an unrelated family, presented with symptoms and magnetic resonance imaging signs of leukoencephalopathy. Localized proton magnetic resonance spectroscopy indicated a prominent singlet at 2.40ppm in cerebral and cerebellar white matter not present in gray matter or basal ganglia. The signal was also elevated in cerebrospinal fluid and could be identified as originating from the two equivalent methylene groups of succinate. Subsequently, an isolated deficiency of complex II (succinate:ubiquinone oxidoreductase) was demonstrated in 2 patients in muscle and fibroblasts. One of the sisters died at the age of 18 months. Postmortem examination showed the neuropathological characteristics of Leigh syndrome. Her younger sister, now 12 months old, is also severely affected; the boy, now 6 years old, follows a milder, fluctuating clinical course. magnetic resonance spectroscopy provides a characteristic pattern in succinate dehydrogenase deficiency.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
9/38. L-asparaginase-induced reversible posterior leukoencephalopathy syndrome in a child with acute lymphoblastic leukemia.Reversible posterior leukoencephalopathy syndrome (RPLS) is being increasingly described with various etiologies even in the absence of hypertension. We present an 11-year-old patient with acute lymphoblastic leukemia who presented with seizures while on treatment with L-asparaginase. MRI showed bilaterally symmetrical nonenhancing occipital lesions characteristic of RPLS. L-asparaginase-induced RPLS is a rare cause of neurological symptoms in patients on induction chemotherapy.- - - - - - - - - - ranking = 1keywords = ms (Clic here for more details about this article) |
10/38. Strategic infarcts of the thalamus in vascular dementia.Strategic infarcts or focal hemorrhages involving the paramedian nuclei of the thalamus may alter consciousness and produce complex neuropsychological symptoms such as impairment of memory, attention and motivation. Lesions disrupting the thalamo-prefrontal circuits lead to severe subcortical dementia. We analysed here the clinical, neuropsychological and neuroimaging data of 19 patients with cerebrovascular lesions in the thalamus. In six patients with bilateral paramedian infarcts, and in two with anterior thalamic infarcts, vascular dementia and severe personality changes developed. SPECT findings did not correlate with the neuropsychological symptoms. Transcortical sensory and motor aphasia was observed in four patients with thalamic hemorrhages and infarcts. In these patients SPECT detected hypoperfusion in adjacent cortical areas. Clinical symptoms and outcome of four patients are reported in detail. The clinico-morphological correlations of the thalamo-cortical circuits are reviewed and the possible causes of multiple cognitive and behavioural consequences of vascular thalamic lesions are discussed.- - - - - - - - - - ranking = 3keywords = ms (Clic here for more details about this article) |
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