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.

Mansonic neuroschistosomiasis in the childhood: an undiagnosed pathology?

Schistosomiasis is an endemic parasitic disease in several tropical countries. In Brazil, the only prevalent species of parasite responsible for schistosomiasis is Schistosoma mansoni. Neuroschistosomiasis is the second most frequent form of infection and the primary ectopic manifestation, with predominant involvement of the lower thoracic spinal cord and lumbar and lumbosacral regions. The frequent contact of children with contaminated ponds and the immaturity of their immune systems make this age group especially susceptible to infection by this parasite. Therefore, neuroschistosomiasis mansoni should always be considered in cases of transverse myelitis in children from endemic regions. The treatment for this condition is quite simple and effective, resulting in total recovery of neurological deficits if the diagnosis is made early.

Medullary neuroschistosomiasis in adolescence: case report and literature review.

INTRODUCTION: Medullary neuroschistosomiasis is a severe complication of gastrointestinal infection by Schistosoma. There are several endemic areas, wherein the only causative species present is Schistosoma mansoni, which is responsible for the clinical manifestations of all cases in those areas. METHODS: We report the case of a 13-year-old female with lumbar pain and progressive lower limb weakness, with a delayed diagnosis of medullary involvement by the parasite. We also reviewed the literature on the disease. CONCLUSIONS: Although it is related to the less severe forms of schistosomiasis, one should pay attention to the diagnosis of neuroschistosomiasis in cases of transverse myelitis in patients who traveled to endemic areas. The delay in diagnosis and, consequently, the introduction of treatment may result in irreversible neurological sequelae.

Detection of Cerebral Vasculopathy by Transcranial Doppler in Children With Neurofibromatosis Type 1.

Neurofibromatosis type 1 is characterized by nerve sheath neurofibromas associated with a number of additional clinical features, including cerebrovascular disease. The aim of this study was to use transcranial Doppler as a screening method for identifying cerebral vasculopathy in children with neurofibromatosis type 1. Forty children with neurofibromatosis type 1, aged 5 to 18 years old, were examined by transcranial Doppler. Patients presenting with hemodynamic features of arterial stenosis/occlusion on transcranial Doppler underwent magnetic resonance angiography to confirm the findings. Magnetic resonance angiography was performed on 4 children who exhibited a transcranial Doppler hemodynamic pattern indicative of cerebral vasculopathy. Among these cases, 2 presented internal carotid artery stenosis/occlusion, 1 had bilateral middle cerebral artery stenosis, and 1 presented a normal magnetic resonance angiography result. Transcranial Doppler can be used routinely in the investigation of cerebrovascular disease in neurofibromatosis type 1 patients, where magnetic resonance angiography can be subsequently applied to confirm the diagnosis, further contributing to the prevention of cerebrovascular events.

Virtual rehabilitation via Nintendo Wii® and conventional physical therapy effectively treat post-stroke hemiparetic patients.

BACKGROUND: The Nintendo® Wii is a simple and affordable virtual therapy alternative. It may be used at home, and it is a motivating recreational activity that provides continuous feedback. However, studies comparing the use of the Nintendo® Wii to conventional physical therapy are needed. OBJECTIVE: To compare the effect of a rehabilitation treatment using the Nintendo® Wii (NW) with conventional physical therapy (CPT) to improve the sensorimotor function and quality of life for post-stroke hemiparetic patients. METHODS: The present study applied a randomized, blind, and controlled clinical trial. In total, 30 patients with post-stroke hemiparesis were evaluated. A total of 15 patients were randomly assigned to each group. The SF-36 quality of life and Fugl-Meyer scales were used to evaluate the patients. RESULTS: After treatment, the only variable that differed between the groups was the physical functioning domain of the SF-36 in the group that received conventional physical therapy. A significant difference was observed between both groups before and after treatment in terms of the following Fugl-Meyer scale items: passive movement and pain, motor function of the upper limbs (ULs), and balance. The CPT group also showed a significant difference with regard to their UL and lower limb (LL) coordination. The SF-36 scale analysis revealed a significant difference within both groups with regard to the following domains: physical functioning, role limitation due to physical aspects, vitality, and role limitation due to emotional aspects. The NW group also exhibited a significant difference in the mental health domain. The results indicate that both approaches improved the patients' performance in a similar manner. CONCLUSION: Virtual rehabilitation using the Nintendo Wii® and CPT both effectively treat post-stroke hemiparetic patients by improving passive movement and pain scores, motor function of the upper limb, balance, physical functioning, vitality, and the physical and emotional aspects of role functioning.

Migraine is frequent in children and adolescents with neurofibromatosis type 1.

BACKGROUND: Despite the high prevalence of headache in patients with neurofibromatosis type 1 (NF1), little data exist regarding the classification and characterization of headaches experienced by these patients. This paper describes a study of headache in patients with NF1 compared with healthy controls. METHODS: In this transversal study, participants (aged 4-19 years) were classified into two groups: NF1 patients or control subjects. The diagnosis of NF1 was performed according to the diagnostic criteria of the National Institutes of Health Consensus Conference, and the headache diagnosis was performed according to the diagnostic criteria of the International Classification of Headache Disorders, Second Edition. All participants underwent physical and neurologic evaluation and completed a detailed headache questionnaire. RESULTS: The comparison of 50 patients with NF1 and 50 age-matched controls revealed that the complaint of headache was significantly more frequent in the NF1 group than in the control group (CG) (62% vs 14%, χ(2)(1) = 22.4; P < 0.001). Migraine was significantly more frequent in patients with NF1 than in the CG (54% vs 14%, χ(2)(1) = 17.82; P < 0.001). No differences were found between the two groups regarding the use of simple analgesics (NF1: 14% vs CG: 5%, χ(2)(1) = 1.18; P = 0.276). CONCLUSIONS: Children and adolescents with NF1 are prone to migraines. Complaints of headache are very frequent in this population.

Inherited manganism: the "cock-walk" gait and typical neuroimaging features.

Manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. This letter highlights the neurological manifestations and neuroimaging features of inherited manganism (IMn), an unusual and treatable inborn error of Mn homeostasis. Early-onset dystonia with "cock-walk" gait and hyperintense signal in basal ganglia, associated to polycythemia, chronic liver disease and hypermanganesemia, promptly suggest IMn, and a genetic evaluation should be performed.

Psychiatric symptoms may contribute to poor quality of life in adolescents with migraine.

BACKGROUND: The impact of migraine on quality of life (QOL) can be aggravated by other comorbid factors. The aim of the present study was to assess the differences in the QOL of adolescents with chronic migraine, episodic migraine, and healthy adolescents, and whether the differences in QOL among the diagnostic groups were associated with the presence of self-reported psychiatric symptoms, such as depression and anxiety. METHODS: A total of 157 adolescents (aged 15-19 years old) were included in the study. Fifty patients had episodic migraine, 56 patients suffered from chronic migraine, and 51 healthy adolescents were controls. All of the participants responded to a detailed headache questionnaire, the Medical Outcomes Trust 36-Item Short-form Health Survey, the State-Trait Anxiety Inventory and the Beck Depression Inventory. RESULTS: Chronic migraine patients showed a significantly lower QOL than the control subjects in five dimensions of the Medical Outcomes Trust 36-Item Short-form Health Survey, and lower QOL than the episodic migraine patients in four dimensions. High levels of self-reported depressive symptoms were associated with lower QOL in five dimensions and high levels of self-reported anxiety were associated with lower QOL in four dimensions. CONCLUSIONS: The QOL of adolescent migraine sufferers may be aggravated not only by migraine but also by other factors, such as anxiety and depressive symptoms, which may contribute to the poor QOL in adolescents suffering from migraine.

Trigger factors mainly from the environmental type are reported by adolescents with migraine / Fatores desencadeantes de migrânea relatados por adolescentes

Migraine can be triggered by many factors such as stress, sleep, fasting and environmental causes. There are few studies that evaluated migraine trigger factors in the adolescent population. Methods: A total of 100 participants from 10 to 19 years were subjected to a detailed headache questionnaire, with demographic and clinical data, and a headache diary including trigger factors during a two-month period was asked. Results: Fifty of the participants exhibited chronic migraine and the other 50 participants demonstrated episodic migraine. The most common group of trigger factors reported was the environmental one, mainly sun/clarity, followed by hot weather and the smell of perfume. Conclusions: Ninety-one percent of children and adolescents with migraine reported a trigger factor precipitating the migraine attack. .

Crises de migrânea podem ser desencadeadas por muitos fatores, como estresse, sono, jejum e causas ambientais. Poucos estudos avaliaram os fatores desencadeantes de migrânea em adolescentes. Métodos: Cem pacientes, de 10 a 19 anos, foram submetidos a um questionário detalhado sobre sua cefaleia, com dados demográficos e clínicos e um diário da cefaleia, incluindo perguntas sobre os fatores desencadeantes, por um período de dois meses. Resultados: Cinquenta pacientes apresentavam migrânea episódica e 50, migrânea crônica. O grupo de fatores desencadeantes mais frequentemente relatado foi o ambiental, principalmente sol ou claridade, seguido pelo clima quente e pelo cheiro de perfume. Conclusões: Noventa e um por cento dos adolescentes com migrânea relataram pelo menos um fator desencadeante de crises álgicas. .

Trigger factors mainly from the environmental type are reported by adolescents with migraine.

UNLABELLED: Migraine can be triggered by many factors such as stress, sleep, fasting and environmental causes. There are few studies that evaluated migraine trigger factors in the adolescent population. METHODS: A total of 100 participants from 10 to 19 years were subjected to a detailed headache questionnaire, with demographic and clinical data, and a headache diary including trigger factors during a two-month period was asked. RESULTS: Fifty of the participants exhibited chronic migraine and the other 50 participants demonstrated episodic migraine. The most common group of trigger factors reported was the environmental one, mainly sun/clarity, followed by hot weather and the smell of perfume. CONCLUSIONS: Ninety-one percent of children and adolescents with migraine reported a trigger factor precipitating the migraine attack.

Sleep terrors antecedent is common in adolescents with migraine / O antecedente de terror noturno é frequente em adolescentes com migrânea

Migraines and sleep terrors (STs) are highly prevalent disorders with striking similarities. The aim of this study was to evaluate the effect of the antecedent of STs by comparing adolescents suffering from migraines with healthy controls in a large consecutive series. METHODS: All patients were subjected to a detailed headache questionnaire and were instructed to keep a headache diary during a two-month period. The age range was 10 to 19 years. The diagnosis of STs was defined according to the International Classification of Sleep Disorders. RESULTS: A total of 158 participants were evaluated. Of these participants, 50 suffered from episodic migraines (EMs), 57 had chronic migraines (CMs) and 51 were control subjects (CG). Participants who had a history of STs had significantly more migraines than participants who did not. CONCLUSIONS: Migraine is strongly associated with a history of STs in the adolescent population independent of demographics and pain intensity.

Migrânea e terror noturno (TN) são transtornos de alta prevalência que compartilham muitas similaridades. O objetivo desse estudo foi avaliar a ocorrência do antecedente de TN, comparando adolescentes com migrânea e adolescentes saudáveis. Métodos: Todos os pacientes foram submetidos a um questionário detalhado sobre sua cefaleia e foram instruídos a preencher um diário durante um período de dois meses. A idade dos sujeitos variou entre 10 e 19 anos. O diagnóstico de TN foi definido de acordo com a Classificação Internacional dos Transtornos do Sono. Resultados: Foram avaliados 158 sujeitos. Desses indivíduos, 50 apresentavam migrânea episódica, 57 migrânea crônica e 51 eram controles. Participantes que tinham o antecedente de TN apresentavam significativamente mais crises de migrânea do que aqueles que não tinham. Conclusões: Migrânea esteve fortemente associada ao antecedente de TN na população de adolescentes independentemente de variáveis demográficas e intensidade da dor.

Sleep terrors antecedent is common in adolescents with migraine.

UNLABELLED: Migraines and sleep terrors (STs) are highly prevalent disorders with striking similarities. The aim of this study was to evaluate the effect of the antecedent of STs by comparing adolescents suffering from migraines with healthy controls in a large consecutive series. METHODS: All patients were subjected to a detailed headache questionnaire and were instructed to keep a headache diary during a two-month period. The age range was 10 to 19 years. The diagnosis of STs was defined according to the International Classification of Sleep Disorders. RESULTS: A total of 158 participants were evaluated. Of these participants, 50 suffered from episodic migraines (EMs), 57 had chronic migraines (CMs) and 51 were control subjects (CG). Participants who had a history of STs had significantly more migraines than participants who did not. CONCLUSIONS: Migraine is strongly associated with a history of STs in the adolescent population independent of demographics and pain intensity.

Adolescents with chronic migraine commonly exhibit depressive symptoms.

Psychiatric comorbidity in patients with headache contributes to poorer prognosis, chronification of disease, poor response to treatment, increased cost of treatment, and decreased quality of life. The purpose of the present study was to evaluate the depressive symptoms in adolescents with chronic and episodic migraines and healthy adolescents. The study was performed between November 2010 and November 2011. All patients completed a detailed headache questionnaire comprising of demographical and clinical data and were instructed to fill out a headache diary over a 2-month period. The subjects ranged in age from 13 to 19 years. To evaluate depression symptoms, all of the subjects were asked to fill out the Beck Depression Inventory (BDI). A total of 137 participants were evaluated; 44 had episodic migraine (EM), 46 had chronic migraine (CM) and 47 were control subjects. Patients with a history of chronic migraine had significantly higher scores on the BDI than the other participants. Patients with chronic migraine had BDI scores that were 8.8 points higher than controls [95 % CI (ß) = 5.0, 12.6] and 5.8 points higher than patients with EM [95 % CI (ß) = 2.2, 9.4]. The main finding of this study was that chronic migraine is strongly associated with depression symptoms, regardless of demographic data. Comorbid depression may increase the total burden of migraine and diagnosis and treatment of depression in adolescents with migraine is likely to result in a better prognosis.

Pediatric central nervous system tumors: a single-center experience from 1989 to 2009.

The objective of this study was to determine the epidemiology of primary tumors of the central nervous system (CNS) in pediatric patients from a Brazilian oncology institute. We retrospectively analyzed 741 charts (415 males and 326 females) of patients under 21 years of age who were diagnosed with a CNS tumor. The analysis included patients from 1989 to 2009 and was performed using the World Health Organization criteria. We evaluated the distribution of age, sex, topography, clinical symptoms, symptom intervals, and classification of the tumors. Patients with clinical/radiologic diagnoses were included. Seven hundred forty-one patients with tumors in the CNS were reviewed, and 83% of the patients presented a histologic diagnosis. Males (56%) were more prevalent than females. In children under the age of 1 year, the supratentorial compartment was the predominant region involved (62.0%). Astrocytoma was the most frequent tumor type (37.0%), followed by medulloblastoma (13.6%), craniopharyngioma (10.5%), and ependymoma (6.8%). Headaches were the most common symptom, and the symptom intervals varied from 1 to 5010 days. Approximately 4% of the patients had associated genetic syndromes. Although it was not a population study and selection bias may have occurred, this study supplies important epidemiologic data from an emerging country in which population studies are rare.