Benefits of intervention in the Central Auditory Nervous System in individuals with Neurofibromatosis Type 1.

OBJECTIVE: To verify the effectiveness of acoustically controlled auditory training in individuals with Neurofibromatosis Type 1. METHODS: The sample consisted of individuals with Neurofibromatosis Type 1, randomly distributed into two groups, making up the intervention group: individuals undergoing formal auditory training; and the comparison group: individuals who were not submitted to the intervention. Behavioral assessment of central auditory processing and electrophysiological evaluation, composed by Brainstem Auditory Evoked Potential and Long Latency-P300 Auditory Evoked Potential, were evaluated in three moments of evaluations: initial evaluation, reevaluation and after four months of reevaluation and comparing the performance between the groups. RESULTS: Better performances in central auditory processing were observed after the formal auditory training in the intervention group with significant differences between the evaluations and performance maintenance four months after the end of the training. Significant differences were observed between the groups in the evaluations after the intervention. The electrophysiological evaluation shows unsystematic variation in the short latency potentials and changes in the long latency potentials with the appearance of the P3 wave after the intervention. The behavioral and electrophysiological evaluation in group that was not submitted to the intervention demonstrated that there is no improvement without the intervention, with deterioration of performance. Significant differences were observed in the behavioral and electrophysiological evaluations, in favor of the group submitted to formal auditory training. CONCLUSIONS: Formal auditory training is effective in rehabilitation in individuals with Neurofibromatosis Type 1. DESCRIPTORS/KEYWORDS: Neurofibromatosis 1; Hearing Disorders; Auditory Perceptual Disorders; Acoustic Stimulation; Evoked Potentials, Auditory.

Diencephalic syndrome-like presentation of brainstem tumor: a series case-based review.

PURPOSE: Russel described a rare clinical entity known as diencephalic syndrome (DS) in 1951, which was traditionally caused by a neoplasm in the hypothalamic-optic chiasmatic region. DS is characterized by severe emaciation despite adequate or slightly reduced caloric intake, locomotor hyperactivity, euphoria and other minor features. Current evidence suggests that a rare population of children with a similar phenotype may have their tumor located in the posterior fossa instead, defining the DS-like presentation, a rare entity with few cases reported in the literature. METHODS: A thorough search of three databases (PubMed, Ovid Medline, and Ovid Embase) was conducted to identify relevant papers reporting children with DS associated with brainstem tumors. To our knowledge, only seven cases have been documented in the literature. Moreover, we present four of our own cases, focusing on the unusual clinical presentation, the diagnosis process, and the lag time between the initial symptoms and the definitive diagnosis. RESULTS: In this review, the mean lag time between the onset of symptoms and diagnosis was 20.9 months (median: 16 months; range: 1.5-72 months), whereas in our series of cases, the time was 32.5 months (median: 33 months; range: 7-57 months). CONCLUSION: Despite recent significant advances in neuro-oncology diagnostic tools, this mean lag time did not improve when compared with the previous literature review from 1976. Throughout these data, we aim to raise awareness in the hopes of detecting intracranial neoplasms earlier in cases of children with profound emaciation of unknown cause.