Proton MRS has proved useful in the early diagnosis of HIV-related encephalopathy. The modifications of brain metabolism in HIV-related encephalopathy can be classified according to different metabolic patterns (Vion-Dury J et al. CR Acad Sci 1994;317:833-840). The present study describes the relative occurrence of these patterns and evaluates their evolution under zidovudine treatment. We have examined 112 HIV patients--35 neuroasymptomatic patients and 77 patients with ADC (AIDS dementia complex)--with localized proton MRS, using the PRESS 135-msec sequence. We have found the same metabolic modifications in N-acetylaspartate and choline-containing compounds as described in the literature. In addition, 14% of HIV patients with normal MRI displayed abnormal MRS, whatever their neurological status. The MRS-added diagnostic value in neuroasymptomatic patients reaches 30 %. The occurrence of undifferentiated (modification of NAA/Cho ratio only) and Cho (mainly an increase in choline signal) patterns is not significantly different in neuroasymptomatic and ADC patients. The NAA pattern (mainly a significant loss of NAA) is more frequent in ADC patients. Only ADC patients display the double pattern (with a significant increase in choline signal and a significant loss of NAA). Quantitated cerebral atrophy (bifrontal ratio) is related to the occurrence of NAA loss (in NAA and double patterns). An MRS follow-up study of 11 HIV patients showed that the clinical outcome was favorable after a 1000-mg/day zidovudine treatment in patients displaying an NAA pattern whereas this treatment had no effect on the patients displaying the Cho pattern. Consequently, MRS appears to be of great interest in predicting responsiveness to antiretroviral drugs and detecting early any resistance to treatment.
A 10-year review of a neuropediatric department experience with childhood ischemic cerebrovascular disease identified 35 patients with arterial ischemic stroke. The ability to diagnose stroke in children has improved with the development of imaging techniques in the past few years. Children have a wide array of risk factors for ischemic strokes, since some are acquired and others are congenital. Twenty-eight associated conditions (80%) were found in our patients and we identified 17 specific causes (48.5%) among them. The cause of stroke in children is important to recognize because stroke is likely to recur depending on the etiology.
Background and objective:PRRT2 variants have been reported in a few cases of patients with hemiplegic migraine. To clarify the role of PRRT2 in familial hemiplegic migraine, we studied this gene in a large cohort of affected probands.Methods:PRRT2 was analyzed in 860 probands with hemiplegic migraine and PRRT2 mutations were identified in 30 probands. Genotyping of relatives identified a total of 49 persons with mutations whose clinical manifestations were detailed.Results:PRRT2 mutations were found in 12 of 163 probands previously tested negative for CACNA1A, ATP1A2 and SCN1A mutations, and in 18 of 697 consecutive probands screened simultaneously on the four genes. In this second group, pathogenic variants were found in 105 subjects, mostly in ATP1A2 (42%), followed by CACNA1A (26%), PRRT2 (17%) and SCN1A (15%). The PRRT2 mutations included seven distinct variants, five of which already described in persons with paroxysmal kinesigenic dyskinesia, and two new variants. Eight probands had a deletion of the whole PRRT2 gene.Among the 49 PRRT2 mutated patients, 26 had pure hemiplegic migraine, 16 had hemiplegic migraine associated with another manifestation: epilepsy (8), learning disabilities (5), hypersomnia (4) or abnormal movement (3). Three patients had epilepsy without migraine, two had paroxysmal kinesigenic dyskinesia without migraine, and one was asymptomatic.Conclusion:PRRT2 should be regarded as the fourth autosomal dominant gene for hemiplegic migraine, and screened in any affected patient, together with the three other main genes. Further studies are needed to understand how the same loss of function PRRT2 mutations can lead to a wide range of neurologic phenotypes including paroxysmal movement disorder, epilepsy, learning disabilities, sleep disorder and hemiplegic migraine.
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