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Objetivo. Apresentação da Doença de Huntington Juvenil com coreia oromandibular como manifestação inicial. Método. Relato de caso e breve revisão da literatura. Resultados. Apesar do fenótipo variante clássico de Westphal sem distúrbios do movimento hipercinético na doença de Huntington juvenil, alguns pacientes podem apresentar coreia como apresentação inicial da JHD. Conclusões. A fenomenologia hipercinética não descarta JHD no contexto de achados sugestivos de neuroimagem e história familiar de HD, apesar da clássica apresentação rígida-acinética da variante Westphal.

Busulfan is commonly used in the conditioning regimen for hematopoietic stem cell transplantation. Due to the risk of seizures associated with its use, prophylaxis with an anti-seizure drug is required. We prospectively evaluated the effectiveness of oral levetiracetam in children and adolescents for the prevention of busulfan-induced seizures. None of the 64 patients included in the study experienced seizures during the conditioning therapy or side effects that required discontinuation of the drug. Our results suggest that oral levetiracetam is effective in this setting.

BackgroundType 1 neurofibromatosis occurs in 1 in every 3,000 individuals, representing 90% of cases of neurofibromatosis. Hearing impairments are not commonly described as an alteration resulting from the pathology; however, sensorineural hearing losses with retrocochlear characteristics may occur as a result of the presence of acoustic neurinomas.ObjectivesTo assess the electrophysiological and electroacoustic hearing characteristics of individuals with neurofibromatosis type 1.Material and methodsWe assessed 15 patients, 10 females and 5 males, aged between 9 and 31 years, using the following procedures: pure tone audiometry, transient evoked otoacoustic emissions, contralateral suppression of otoacoustic emissions, and brainstem auditory evoked potentials.ResultsAll individuals presented auditory thresholds within normal limits. The mean amplitude of the general responses of otoacoustic emissions in the right and left ears were 11.8 and 12.8 dB, respectively; the suppression effect of otoacoustic emissions was present in 73.3% for the right ear and 66.7% for the left. For brainstem auditory evoked potentials, we obtained mean wave latencies for the right and left ears respectively of wave I: 1.83 and 1.80 ms, III: 4.08 and 4.15 ms, and V: 5.96 and 6.09 ms.ConclusionsIndividuals with neurofibromatosis type 1 present auditory thresholds within normal limits, present transient otoacoustic emissions, the nonsystematic presence of the suppression effect of otoacoustic emissions and prolonged latencies in brainstem auditory evoked potentials.

Purpose of Review In 2016, the World Health Organization declared the Zika virus (ZIKV) outbreak a Public Health Emergency of International Concern following a cluster of associated neurological disorders and neonatal malformations. Our aim is to review the clinical and neuroimaging findings seen in congenital Zika syndrome. Recent Findings ZIKV injures neural progenitor cells in the hippocampus, a brain region important for learning, memory, cognition, and emotion/stress response. Positron emission tomography has revealed global neuroinflammation in ZIKV infection in animal models. Summary Congenital Zika syndrome is associated with a spectrum of brain abnormalities, including microcephaly, parenchymal calcifications, malformations of cortical development and defective neuronal migration, corpus callosum abnormalities, ventriculomegaly, and brainstem and cerebellar abnormalities.

A 24-year-old woman with severe intellectual disability presented with refractory epilepsy since the first day of life. She had global developmental delay and remarkable abnormalities in both primary and secondary teeth (figure). Brain MRI was normal. A whole exome sequencing revealed SLC13A5 compound heterozygous mutations C>T at chr17:6.606.350, p.Gly219Arg, and G>A at chr17:6.590.909, p.Pro505Leu.

Cerebellar ataxias may have genetic and nongenetic causes. Early-onset and progressive ataxias are frequently related to an autosomal recessive inheritance. However, some nongenetic ataxias may occur in childhood or young adulthood.1,2