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.

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.

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.

Morphological variations of hippocampal formation in epilepsy: image, clinical and electrophysiological data.

Morphological variations of hippocampal formation (MVHF) are observed in patients with epilepsy but also in asymptomatic individuals. The precise role of these findings in epilepsy is not yet fully understood. This study analyzes the hippocampal formation (HF) morphology of asymptomatic individuals (n = 30) and of patients with mesial temporal lobe epilepsy associated with hippocampal sclerosis (MTLE-HS) (n = 68), patients with malformations of cortical development (MCD) (n = 34), or patients with pure morphological variations of hippocampal formation (pure MVHF) (n = 12). Main clinical and electrophysiological data of patients with MVHF were also analyzed. Morphological variations of hippocampal formation are more frequently observed in patients with MCD than in patients with MTLE-HS or in asymptomatic individuals. Patients with pure morphological variations of hippocampal formation showed higher incidence of extratemporal seizure onset. Refractoriness seems to be more associated with other abnormalities, like HS or MCD, than with the HF variation itself. Thus, although morphological HF abnormalities might play a role in epileptogenicity, they seem to contribute less to refractoriness.

Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C.

A 10-year-old boy presented to our hospital with a 3-year history of fall attacks triggered by laughing, leading to a generalized loss of muscle tone without loss of consciousness (video). One year later, motor delayed skills started. Examination showed ataxia, moderate cognitive impairment, and vertical gaze palsy. EEG revealed diffuse slowing and disorganization of background rhythms. Molecular analysis disclosed heterozygosis p.P1007A and p.A1035V mutations, diagnostic of Niemann-Pick disease type C (NPC).

Chin tremor in full-term neonate after hypoxia.

CONTEXT: Newborns may present a range of motor phenomena that are not epileptic in nature. Chin tremor is an unusual movement disorder that typically starts in early childhood and may be precipitated by stress and emotion. Its pathophysiology has not been fully elucidated. CASE REPORT: We describe a full-term newborn that, immediately after neonatal anoxia, presented body and chin tremors that were unresponsive to anti-epileptic drugs. Subsequent neurological evaluation revealed signs of pyramidal tract damage and chin tremor triggered by percussion and crying. We discuss the hypothesis that the anatomopathological abnormality may lie at the level of the higher cortical centers or midbrain. CONCLUSIONS: Further studies are needed in order to gain greater comprehension of neonatal tremors. Recognition of the various etiological possibilities and consequent management of treatable causes is essential for care optimization.

Chin tremor in full-term neonate after hypoxia / Tremor de mento em recém-nascido no termo após hipóxia neonatal

CONTEXT: Newborns may present a range of motor phenomena that are not epileptic in nature. Chin tremor is an unusual movement disorder that typically starts in early childhood and may be precipitated by stress and emotion. Its pathophysiology has not been fully elucidated. CASE REPORT: We describe a full-term newborn that, immediately after neonatal anoxia, presented body and chin tremors that were unresponsive to anti-epileptic drugs. Subsequent neurological evaluation revealed signs of pyramidal tract damage and chin tremor triggered by percussion and crying. We discuss the hypothesis that the anatomopathological abnormality may lie at the level of the higher cortical centers or midbrain. CONCLUSIONS: Further studies are needed in order to gain greater comprehension of neonatal tremors. Recognition of the various etiological possibilities and consequent management of treatable causes is essential for care optimization.

CONTEXTO: O recém-nascido está sujeito a uma gama de fenômenos motores de natureza não epiléptica. O tremor do mento é um distúrbio do movimento incomum que tem início habitual na infância e pode ser precipitado por estresse e emoção. Sua fisiopatologia não foi completamente elucidada. RELATO DE CASO: Descrevemos um recém-nascido no termo, que, após anóxia neonatal, apresentou tremor de corpo e mento não responsivo ao uso de drogas antiepilépticas. A avaliação neurológica posterior revelou sinais de lesão do trato piramidal e tremor de mento desencadeado por choro e percussão. Discutimos a hipótese de que as alterações anatomopatológicas estejam localizadas no mesencéfalo ou centros corticais superiores. CONCLUSÕES: São necessários novos estudos para maior compreensão dos tremores em recém-nascidos. O reconhecimento das diversas possibilidades etiológicas e o decorrente manejo das causas tratáveis são essenciais para a otimização do atendimento.

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.

Comparison of clinical characteristics of patients with adductor laryngeal dystonia in the focal and segmental types.

UNLABELLED: Dystonia is a central motor processing neurological disorder characterized by abnormal, often action-induced, involuntary movements or uncontrolled spasms. AIM: To compare patients with the diagnoses of focal and segmental adductor laryngeal dystonia at the Neurolarynx Outpatient Clinic of the Federal University of São Paulo. MATERIALS AND METHODS: A clinical retrospective study of data collected from patient registries from 2003 to 2009. RESULTS: Of 34 patients, 25 presented focal dystonia and 9 presented segmental dystonia. There were 30 females (88. 2%) and 4 males (11. 8%). A relation with a traumatic event was reported in 11 cases (32. 4%). Vocal tremor was observed in 21 patients (61. 8%). The mean age at onset, the age at diagnosis, and time between the onset and the diagnosis were respectively 55, 61. 3 and 6. 3 years. There was no statistical difference between patients with focal laryngeal adductor dystonia and segmental dystonia in the study data. CONCLUSIONS: There were no statistical differences among patients with focal adductor laryngeal dystonia and segmental dystonia relating to age of onset, age of diagnosis, gender, time between onset and diagnosis, presence of associated tremor, and relation to trauma.

Comparison of clinical characteristics of patients with adductor laryngeal dystonia in the focal and segmental types / Comparação entre características clínicas de pacientes com distonia laríngea de adução nas formas focal e segmentar

Dystonia is a central motor processing neurological disorder characterized by abnormal, often action-induced, involuntary movements or uncontrolled spasms. AIM: To compare patients with the diagnoses of focal and segmental adductor laryngeal dystonia at the Neurolarynx Outpatient Clinic of the Federal University of São Paulo. MATERIALS AND METHODS: A clinical retrospective study of data collected from patient registries from 2003 to 2009. RESULTS: Of 34 patients, 25 presented focal dystonia and 9 presented segmental dystonia. There were 30 females (88. 2 percent) and 4 males (11. 8 percent). A relation with a traumatic event was reported in 11 cases (32. 4 percent). Vocal tremor was observed in 21 patients (61. 8 percent). The mean age at onset, the age at diagnosis, and time between the onset and the diagnosis were respectively 55, 61. 3 and 6. 3 years. There was no statistical difference between patients with focal laryngeal adductor dystonia and segmental dystonia in the study data. CONCLUSIONS: There were no statistical differences among patients with focal adductor laryngeal dystonia and segmental dystonia relating to age of onset, age of diagnosis, gender, time between onset and diagnosis, presence of associated tremor, and relation to trauma.

A distonia é um transtorno neurológico do processamento motor central caracterizado por movimentos involuntários ou espasmos incontroláveis, induzidos por atividade. OBJETIVO: Comparar pacientes com o diagnóstico de distonia laríngea nas formas focal e distonia segmentar do Ambulatório de Neurolaringe. MATERIAL E MÉTODO: Estudo clínico retrospectivo a partir de levantamento dos prontuários entre 2003 e 2009. RESULTADOS: Dos 34 pacientes, 25 apresentaram distonia focal e 9 apresentaram distonia segmentar. Do total da amostra, 30 (88,2 por cento) eram do sexo feminino e 4 (11,8 por cento) do sexo masculino. A relação com situação traumática estava presente em 11 (32,4 por cento). O tremor associado esteve presente em 21 pacientes (61,8 por cento). A média da idade do início das queixas, idade do diagnóstico e do tempo de queixa até o diagnóstico da amostra foi respectivamente de 55 anos, 61,3 anos e 6,3 anos. Não houve diferença estatisticamente significativa entre pacientes com distonia laríngea focal e distonia laríngea nos dados pesquisados. CONCLUSÃO: Não houve diferenças entre pacientes com distonia laríngea focal e distonia laríngea segmentar quanto à idade de início, idade do diagnóstico, gênero, tempo de duração dos sintomas até o diagnóstico, presença de tremor associado e relação com situação traumática.

Spontaneous periodic hypothermia and hyperhidrosis: a possibly novel cerebral neurotransmitter disorder.

Spontaneous periodic episodes of hypothermia still defy medical knowledge. In 1969, Shapiro et al. described the first two cases of spontaneous periodic hypothermia associated with agenesis of the corpus callosum. Recently, Dundar et al. reported a case of spontaneous periodic hypothermia and hyperhidrosis without corpus callosum agenesis, suggesting that the periodic episodes of hypothermia might be of epileptiform origin. Here we describe two paediatric patients with spontaneous periodic hypothermia without corpus callosum agenesis and demonstrate, to our knowledge for the first time, altered levels of neurotransmitter metabolites within the cerebrospinal fluid.

Prognostic factors predicting a fatal outcome in HIV-negative children with neurotuberculosis.

OBJECTIVE: To identify prognostic factors predicting a fatal outcome in HIV-negative children with neurotuberculosis based on clinical, epidemiological, and laboratory findings. METHOD: The clinical records of all in-patients diagnosed with neurotuberculosis from 1982 to 2005 were evaluated retrospectively. The following prognostic parameters were examined: gender, age, close contact with a tuberculosis-infected individual, vaccination for bacillus Calmette-Guérin, purified protein derivative (PPD) of tuberculin results, concomitant miliary tuberculosis, seizures, CSF results, and hydrocephalus. RESULTS: One hundred forty-one patients diagnosed with neurotuberculosis were included. Seventeen percent of the cases resulted in death. The factors that were correlated with a negative outcome included lack of contact with a tuberculosis-infected individual, negative PPD reaction, coma, and longer hospitalisation time. A multiple logistic regression analysis was performed to identify which of these factors most often resulted in death. CONCLUSION: Coma at diagnosis, lack of tuberculosis contact, and a non-reactive PPD were the most important predictors of fatality in patients with neurotuberculosis.

Prognostic factors predicting a fatal outcome in HIV-negative children with neurotuberculosis / Fatores prognósticos de letalidade da neurotuberculose em crianças HIV-negativas

OBJECTIVE: To identify prognostic factors predicting a fatal outcome in HIV-negative children with neurotuberculosis based on clinical, epidemiological, and laboratory findings. METHOD: The clinical records of all in-patients diagnosed with neurotuberculosis from 1982 to 2005 were evaluated retrospectively. The following prognostic parameters were examined: gender, age, close contact with a tuberculosis-infected individual, vaccination for bacillus Calmette-Guérin, purified protein derivative (PPD) of tuberculin results, concomitant miliary tuberculosis, seizures, CSF results, and hydrocephalus. RESULTS: One hundred forty-one patients diagnosed with neurotuberculosis were included. Seventeen percent of the cases resulted in death. The factors that were correlated with a negative outcome included lack of contact with a tuberculosis-infected individual, negative PPD reaction, coma, and longer hospitalisation time. A multiple logistic regression analysis was performed to identify which of these factors most often resulted in death. CONCLUSION: Coma at diagnosis, lack of tuberculosis contact, and a non-reactive PPD were the most important predictors of fatality in patients with neurotuberculosis.

OBJETIVO: Identificar elementos prognósticos para a letalidade da neurotuberculose na criança, a partir das manifestações clínicas, dados epidemiológicos e laboratoriais. MÉTODO: Registros de pacientes internados durante o período de 1982 a 2005 foram retrospectivamente avaliados. Os elementos prognósticos considerados foram: sexo, idade, história de contato íntimo com indivíduo com tuberculose, vacinação com o bacilo de Calmette-Guérin (BCG), teste tuberculínico (PPD), concomitância de tuberculose miliar, convulsões, resultados da análise do LCR e presença de hidrocefalia. RESULTADOS: 141 pacientes com diagnóstico de neurotuberculose foram incluídos. Dezessete por cento dos pacientes foram a óbito. Os fatores associados ao óbito foram história negativa de contágio, ausência de reatividade ao teste de PPD, coma e tempo de internação prolongado. Análise por regressão logística múltipla foi usada para investigar as relações entre os elementos prognósticos e o desfecho óbito. CONCLUSÃO: Os fatores prognósticos na previsão de óbito nos pacientes com neurotuberculose foram a presença de coma no momento do diagnóstico, a ausência de história de contágio e a ausência de reação ao PPD.

Herpes simplex type 1 encephalitis restricted to the brainstem in a pediatric patient.

Herpes simplex encephalitis is a potentially fatal infection of central nervous system that typically involves frontal and temporal lobes. Occasionally, it presents an extratemporal involvement and in rarer cases, it is limited to the brainstem. We describe a case of an adolescent who presented with fever, sore throat, and vertigo. Clinical picture evolved to lethargy, tetraparesis, consciousness impairment, and respiratory failure. MRI showed lesions restricted to the brainstem. PCR of CSF was positive for herpes simplex type 1.