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).

Nocturnal enuresis antecedent is common in adolescents with migraine.

BACKGROUND: Migraine and nocturnal enuresis are highly prevalent disorders with striking similarities. Both have unknown pathophysiology and are considered multifactorial, with neurobiological, genetic, and behavioral aspects involved. Interestingly, the same neurological structures thought to be involved in the pathogenesis of migraine are also thought to be involved in nocturnal enuresis. Few studies, however, have addressed these conditions as related. The aim of this study was to evaluate the antecedent of nocturnal enuresis in a large consecutive series of adolescents with migraine as compared to controls. METHODS: A total of 151 subjects were evaluated; 50 had episodic migraine, 50 had chronic migraine, and 51 were control subjects. All patients were submitted to a detailed questionnaire addressing epidemiological and clinical aspects. RESULTS: There was a strong correlation between the clinical history of nocturnal enuresis and the diagnosis of migraine. CONCLUSION: Our study showed that nocturnal enuresis is a precursor of migraine and a migraine comorbid condition. These results support a pathophysiological linkage between the two conditions.

Social anxiety score is high in adolescents with chronic migraine.

BACKGROUND: Social anxiety disorder, also known as social phobia, is a marked and persistent fear of one or more social or performance situations in which the person is exposed to unfamiliar people or to possible scrutiny by others. It usually begins in mid-adolescence and has a chronic course and interferes in academic, social, family and personal functioning. Recent studies have shown that social anxiety disorder is more prevalent in adults with migraine. Little evidence on this subject is available for the adolescent population. METHODS: This study was performed between August 2009 and August 2010; all patients were recruited in schools, pediatric or neuropediatric facilities, and were submitted to a detailed headache questionnaire, which consisted of demographic and clinical data. To evaluate social anxiety, the Social Phobia Inventory was used. RESULTS: A total of 151 subjects were evaluated: 50 had chronic migraine, 50 had episodic migraine and 51 were control subjects. In the chronic migraine group, the mean score in the Social Phobia Inventory was 18.5 ± 12.4, which was significantly higher than in the episodic migraine group (12.1 ± 8.1) and in the control group (13.8 ± 10.8; F(2131) = 4.8, P= 0.010). The mean score, however, was not significantly different between the control and episodic migraine groups. CONCLUSIONS: Chronic migraine is strongly associated with high social anxiety score, regardless of demographic data and pain intensity. The total burden of migraine may be increased with social anxiety disorder comorbidity.

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.

Depressão, ansiedade e sonolência diurna em cuidadores primários de crianças com paralisia cerebral / Depression, anxiety and daytime sleepiness of primary caregivers of children with cerebral palsy

OBJETIVO:Avaliar os níveis de depressão, ansiedade e sonolência diurna excessiva em cuidadores primários de crianças com paralisia cerebral, relacionando-os às condições socioeconômicas do cuidador e às características neurológicas da criança e comparando-os a cuidadores de crianças saudáveis. MÉTODOS:45 cuidadores de crianças com paralisia cerebral e 50 cuidadores de crianças saudáveis foram aleatoriamente incluídos no estudo e responderam a um questionário semiestruturado. Avaliaram-se os níveis de depressão, ansiedade e sonolência diurna excessiva por meio das escalas de Beck, ansiedade estado-traço e Epworth, respectivamente. RESULTADOS:A maioria dos entrevistados eram mães com baixo nível socioeconômico. Os que se autoavaliaram como ansiosos e depressivos apresentaram resultados comprobatórios de ansiedade e depressão com as escalas de ansiedade estado-traço e Beck para os cuidadores de crianças com paralisia cerebral. Os níveis de sonolência diurna excessiva estiveram relacionados a elevados níveis de depressão. O comprometimento neurológico das crianças não influenciou os resultados sobre os cuidadores. CONCLUSÕES:Depressão, ansiedade e problemas relacionados ao sono foram comuns em cuidadores de crianças com paralisia cerebral. O nível de funcionalidade neurológica da criança não influenciou os resultados.

OBJECTIVE:To evaluate depression, anxiety and excessive daytime sleepiness (EDS) levels in primary caregivers of children with cerebral palsy (CCP) and to trace the relationships with their socioeconomic conditions and child neurological characteristics, as compared with caregivers of typical children (CTC). METHODS:45 CCP and 50 CTC were randomly chosen and answered a semi-structured questionnaire. We evaluated EDS on the Epworth scale. Beck depression inventory (BDI) and the state-trait anxiety inventory (STAI) identified depressive and anxious symptoms, respectively. RESULTS:The majority of subjects were mothers with low socioeconomic level. Self-perception of anxiety and depressive symptoms of CCP were confirmed through BDI and STAI. EDS was statistically related to high levels of depression. Children's disabilities did not influence the results. CONCLUSIONS:Depression, anxiety symptoms and sleep disruption were common in CCP. Child functional level did not influence the results.

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.

Hemifacial spasm as a manifestation of pilocytic astrocytoma in a pediatric patient.

Hemifacial spasm is a disorder of the seventh cranial nerve, which is characterized by irregular, involuntary and recurrent tonic and clonic contractions of the ipsilateral facial expression muscles. This disorder affects mainly adults, and there are few cases reported in childhood. The main etiologies are vascular problems, although tumors are an important cause of hemifacial spasm via a direct or an indirect mass effect. We report a 6-year-old girl who presented with right hemifacial spasm. Magnetic resonance imaging showed a lesion in the cerebellopontine angle, extending from the midbrain to the pons with a slight mass effect on the fourth ventricle. The histological examination revealed a pilocytic astrocytoma.