A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder.

We report a patient with a terminal 12p deletion associated with autism spectrum disorder (ASD). This 12p13.33 deletion is 1.5Mb in size and encompasses 13 genes (B4GALNT3, CCDC77, ERC1, FBXL14, IQSEC3, KDM5A, LINC00942, LOC574538, NINJ2, RAD52, SLC6A12, SLC6A13 and WNK1). All previous cases reported with partial monosomy of 12p13.33 are associated with neurodevelopmental delay, and we suggest that ERC1, which encodes a regulator of neurotransmitter release, is the best gene candidate contributing to this phenotype as well as to the ASD of our patient.

[Non-epileptic disorders in infancy and adolescence]. / Crisis no epilépticas en la infancia y adolescencia.

Epilepsy affects 0.5% of the population. A 25% of the patients referred to epilepsy services have paroxysmal clinical events associated with motor activities, sensory or emotional alterations, or consciousness impairment, which are not epileptic seizures. The non-epileptic seizures can be classified as psychogenic, which do not have a medical cause, and are associated with primary or secondary psychological problems, and as of physiological origin. The non-epileptic events are manifested by paroxysmal or repetitive behaviors that might be confused with epileptic seizures. The diagnosis is very important in order to avoid unnecessary tests and iatrogenic therapies. This study will present clinical cases and review of the main non-epileptic physiological events (sleep disorders, movement disorders, hypoxic-ischemic phenomena) and psychogenic events (somatoform disorders, fictitious disorders and anxiety disorder).

Debilidad muscular aguda: diagnósticos diferenciales / Acute muscle weakness: differential diagnoses

La debilidad muscular aguda, un trastorno frecuente en pediatría, puede ocurrir a partir de la afectación de cualquier parte de la unidad motora, incluyendo la neurona motora superior, la neurona motora inferior, el nervio perifé- rico, la unión neuromuscular o los músculos. Se manifiesta en general como un trastorno motor agudo de curso progresivo o rápidamente progresivo. La debilidad muscular aguda es una urgencia neuromuscular en especial si afecta a la musculatura respiratoria u orofaríngea. La localización de la debilidad, las señales y los síntomas asociados suelen permitir la ubicación de la lesión. La instalación, la velocidad de la evolución y otros datos de la historia sugieren un diagnóstico fisiopatológico diferencial. El éxito en el tratamiento depende de saber establecer un diagnóstico diferencial rápido y correcto. En este artículo, se presenta el diagnóstico diferencial de las principales patologías neuromusculares que causan la debilidad muscular aguda en la infancia (AU)

Acute muscle weakness, a common disorder in pediatrics, can occur from impairment of any part of the motor unit, including the upper motor neuron, lower motor neuron, peripheral nerve, neuromuscular junction or muscle. It usually manifests itself as an acute or hyperacute motor disorder of progressive or rapidly progressive course. Acute muscle weakness is a neuromuscular emergency, especially if it affects the respiratory or oropharyngeal musculature. The location of the motor weakness and associated neurological signs and symptoms usually indicate the location of the lesion. The onset, speed and clinical evolution, as well as other data from the patient’s history, suggest the pathophysiological differential diagnosis. Successful treatment depends on the immediate and correct differential diagnosis. This paper presents the main differential diagnosis of main neuromuscular diseases that cause acute muscle weakness in children (AU)

[Acute muscle weakness: differential diagnoses]. / Debilidad muscular aguda: diagnósticos diferenciales.

Acute muscle weakness, a common disorder in pediatrics, can occur from impairment of any part of the motor unit, including the upper motor neuron, lower motor neuron, peripheral nerve, neuromuscular junction or muscle. It usually manifests itself as an acute or hyperacute motor disorder of progressive or rapidly progressive course. Acute muscle weakness is a neuromuscular emergency, especially if it affects the respiratory or oropharyngeal musculature. The location of the motor weakness and associated neurological signs and symptoms usually indicate the location of the lesion. The onset, speed and clinical evolution, as well as other data from the patient's history, suggest the pathophysiological differential diagnosis. Successful treatment depends on the immediate and correct differential diagnosis. This paper presents the main differential diagnosis of main neuromuscular diseases that cause acute muscle weakness in children.

TITLE: Debilidad muscular aguda: diagnosticos diferenciales.La debilidad muscular aguda, un trastorno frecuente en pediatria, puede ocurrir a partir de la afectacion de cualquier parte de la unidad motora, incluyendo la neurona motora superior, la neurona motora inferior, el nervio periferico, la union neuromuscular o los musculos. Se manifiesta en general como un trastorno motor agudo de curso progresivo o rapidamente progresivo. La debilidad muscular aguda es una urgencia neuromuscular en especial si afecta a la musculatura respiratoria u orofaringea. La localizacion de la debilidad, las señales y los sintomas asociados suelen permitir la ubicacion de la lesion. La instalacion, la velocidad de la evolucion y otros datos de la historia sugieren un diagnostico fisiopatologico diferencial. El exito en el tratamiento depende de saber establecer un diagnostico diferencial rapido y correcto. En este articulo, se presenta el diagnostico diferencial de las principales patologias neuromusculares que causan la debilidad muscular aguda en la infancia.

Crisis no epilépticas en la infancia y adolescencia / [Non-epileptic disorders in infancy and adolescence].

of the population. A 25

of the patients referred to epilepsy services have paroxysmal clinical events associated with motor activities, sensory or emotional alterations, or consciousness impairment, which are not epileptic seizures. The non-epileptic seizures can be classified as psychogenic, which do not have a medical cause, and are associated with primary or secondary psychological problems, and as of physiological origin. The non-epileptic events are manifested by paroxysmal or repetitive behaviors that might be confused with epileptic seizures. The diagnosis is very important in order to avoid unnecessary tests and iatrogenic therapies. This study will present clinical cases and review of the main non-epileptic physiological events (sleep disorders, movement disorders, hypoxic-ischemic phenomena) and psychogenic events (somatoform disorders, fictitious disorders and anxiety disorder).

Crisis no epilépticas en la infancia y adolescencia. / [Non-epileptic disorders in infancy and adolescence].

Epilepsy affects 0.5

of the population. A 25

of the patients referred to epilepsy services have paroxysmal clinical events associated with motor activities, sensory or emotional alterations, or consciousness impairment, which are not epileptic seizures. The non-epileptic seizures can be classified as psychogenic, which do not have a medical cause, and are associated with primary or secondary psychological problems, and as of physiological origin. The non-epileptic events are manifested by paroxysmal or repetitive behaviors that might be confused with epileptic seizures. The diagnosis is very important in order to avoid unnecessary tests and iatrogenic therapies. This study will present clinical cases and review of the main non-epileptic physiological events (sleep disorders, movement disorders, hypoxic-ischemic phenomena) and psychogenic events (somatoform disorders, fictitious disorders and anxiety disorder).

Childhood acute bacterial meningitis: risk factors for acute neurological complications and neurological sequelae.

OBJECTIVE: To assess acute neurological complications and neurological sequelae of childhood acute bacterial meningitis in order to determine possible warning signs. METHODS: This retrospective study evaluated children with acute bacterial meningitis (between 1 month and 14 years of age) admitted between 2003 and 2006. RESULTS: Of the 44 patients studied, 17 (38.6%) had acute neurological complications. Seizure was the most frequent (31.8%) complication. Patients with acute neurological complications showed a higher frequency of lower neutrophil count (p = 0.03), seizure at admission (p < 0.01), and S. pneumoniae as the etiologic agent (p = 0.01). Risk factors for the development of acute neurological complications were S. pneumoniae (odds ratio [OR] = 6.4, confidence interval [CI] 1.7-24.7) and neutrophil count < 60% (p < 0.01). Of the 35 patients who were followed up, 14 had neurological sequelae (40%). Behavioral change (22.9%) was the most frequent sequela. Seizures at admission (OR = 5.6, CI 1.2-25.9), cerebrospinal fluid protein concentration > 200 mg/dL (p < 0.01), and cerebrospinal fluid glucose concentration/glycemia ratio (p < 0.01) were identified as risk variables for sequelae. CONCLUSION: Neutrophil count < 60%, seizure at admission, and S. pneumoniae as the etiologic agent were identified as warning signs for acute neurological complications, while protein levels, cerebrospinal fluid glucose concentration/glycemia ratio, and seizure at admission were seen as risk factors for neurological sequelae.

Meningite bacteriana aguda na infância: fatores de risco para complicações agudas e sequelas / Childhood acute bacterial meningitis: risk factors for acute neurological complications and neurological sequelae

OBJETIVO: Estudo retrospectivo que visa avaliar as complicações neurológicas agudas e sequelas neurológicas das meningites bacterianas agudas na infância, a fim de determinar possíveis sinais de alerta. MÉTODOS: Foram avaliadas crianças (entre 1 mês e 14 anos) internadas entre 2003 e 2006, com meningite bacteriana aguda. RESULTADOS: Dos 44 pacientes incluídos, 17 (38,6%) apresentaram complicações neurológicas agudas, sendo crise convulsiva a mais frequente (31,8%). Os pacientes com complicações neurológicas agudas apresentaram com mais frequência: menor contagem de neutrófilos (p = 0,03), crise convulsiva na admissão (p < 0,01) e S. pneumoniae como agente etiológico (p = 0,01). Os fatores de risco para o desenvolvimento de complicações neurológicas agudas foram: S. pneumoniae [razão de chances (odds ratio, OR) = 6,4; intervalo de confiança (IC) 1,7-24,7] e contagem de neutrófilos < 60% (p < 0,01). De 35 pacientes seguidos ambulatorialmente, 14 apresentaram sequelas neurológicas (40%), sendo alteração comportamental a mais frequente. A ocorrência de crise convulsiva na internação (OR = 5,6; IC 1.2-25,9), proteinorraquia > 200 mg/dL (p < 0,01) e menor relação glicorraquia/glicemia (p < 0,01) foram identificadas como variáveis de risco para sequelas. CONCLUSÃO: Contagem de neutrófilos < 60%, crise convulsiva na admissão e S. pneumoniae como agente etiológico foram identificados como sinais de alerta para a ocorrência de complicação neurológica aguda, enquanto que proteinorraquia, menor relação glicorraquia/glicemia e crise convulsiva na internação foram observados como fatores de risco para a ocorrência de sequelas neurológicas.

OBJECTIVE: To assess acute neurological complications and neurological sequelae of childhood acute bacterial meningitis in order to determine possible warning signs. METHODS: This retrospective study evaluated children with acute bacterial meningitis (between 1 month and 14 years of age) admitted between 2003 and 2006. RESULTS: Of the 44 patients studied, 17 (38.6%) had acute neurological complications. Seizure was the most frequent (31.8%) complication. Patients with acute neurological complications showed a higher frequency of lower neutrophil count (p = 0.03), seizure at admission (p < 0.01), and S. pneumoniae as the etiologic agent (p = 0.01). Risk factors for the development of acute neurological complications were S. pneumoniae (odds ratio [OR] = 6.4, confidence interval [CI] 1.7-24.7) and neutrophil count < 60% (p < 0.01). Of the 35 patients who were followed up, 14 had neurological sequelae (40%). Behavioral change (22.9%) was the most frequent sequela. Seizures at admission (OR = 5.6, CI 1.2-25.9), cerebrospinal fluid protein concentration > 200 mg/dL (p < 0.01), and cerebrospinal fluid glucose concentration/glycemia ratio (p < 0.01) were identified as risk variables for sequelae. CONCLUSION: Neutrophil count < 60%, seizure at admission, and S. pneumoniae as the etiologic agent were identified as warning signs for acute neurological complications, while protein levels, cerebrospinal fluid glucose concentration/glycemia ratio, and seizure at admission were seen as risk factors for neurological sequelae.

[Study of 312 children with meningitis treated at a University Hospital in the South of Brazil]. / Estudio de 312 niños con meningitis atendidos en un Hospital Universitario en el Sur de Brasil.

The aim of this study is to evaluate the clinical and laboratorial aspects, as well as the etiological profile and the evolution characteristics, of the diverse types of severe meningitis treated at a Pediatric Clinic of a public university hospital. From a descriptive and retrospective study, 312 children at the Pediatric Clinic of the Hospital de Clínicas of the Federal University of Paraná were evaluated between January 2003 and January 2007. All of them had a probable diagnosis of meningitis based on clinical signs, and on the cytological and biochemical alterations in the cerebrospinal fluid routine examination. Viral meningitis (VM) was present in 140 children (45%), 58 had bacterial meningitis (BM - 19%) and etiology was undetermined in 114 (36%). In MB, Neisseria meningitidis was the most frequent etiological agent (25 cases). Predominant clinical symptoms were fever, sickness and headache. The cerebrospinal fluid test showed a high number of polymorphonuclear leukocytes, high protein and low glucose level in MB; mononuclear cells were predominant in VM. Neurological complications were more frequent in BM, and convulsion the most common symptom (6/58 patients). Death happened to one case in VM and 3 in BM. Our conclusions were that the classical triad (headache, vomiting and fever) was the most common clinical manifestation, the cytological and biochemical abnormalities were typical, helping in the differentiation of MB from VM, although a good number of cases ended up with no etiological definition and, finally, immediate neurological complications and death were rare.

Estudio de 312 niños con meningitis atendidos en un Hospital Universitario en el Sur de Brasil / Study of 312 children with meningitis treated at a University Hospital in the South of Brazil

El objetivo de este trabajo fue evaluar los aspectos clínicos, análisis de laboratorio, el perfil etiológico y las características evolutivas de los distintos tipos de meningitis aguda atendidos en un Servicio de Pediatría de un Hospital Público Universitario. Fueron evaluados a partir de un estudio descriptivo y retrospectivo de niños atendidos en el Servicio de Pediatría del Hospital de Clínicas de la Universidad Federal del Paraná, durante el periodo entre enero 2003 a enero 2007, con el diagnóstico probable de meningitis basado en manifestaciones clínicas y en alteraciones citológicas y bioquímicas del LCR. Se diagnosticó meningitis viral (MV) en 140 niños (45%), meningitis bacteriana (MB) en 58 (19%) y en 114 la etiología fue indeterminada (36%). Entre las MB el agente etiológico más frecuente fue Neisseria meningitidis (25 casos). Lo datos clínicos predominantes fueron fiebre, vómitos y cefalea. En el LCR de la MB hubo predominio de polimorfonucleares, proteína elevada y glucosa baja. En la MV predominaron los mononucleares. Las complicaciones neurológicas fueron más frecuentes en la MB, siendo la convulsión el hallazgo más común (6/58 pacientes). El óbito ocurrió en un caso en la MV y tres en la MB. Se llegó a la conclusión de que la clásica tríada fue la manifestación clínica más común, las anormalidades citológicas y bioquímicas fueron típicas auxiliando en la diferenciación entre las MB y MV, aunque un gran número de casos haya quedado sin definición etiológica; las complicaciones neurológicas inmediatas y los óbitos han sido pocos frecuentes en esta muestra.

The aim of this study is to evaluate the clinical and laboratorial aspects, as well as the etiological profile and the evolution characteristics, of the diverse types of severe meningitis treated at a Pediatric Clinic of a public university hospital. From a descriptive and retrospective study, 312 children at the Pediatric Clinic of the Hospital de Clínicas of the Federal University of Paraná were evaluated between January 2003 and January 2007. All of them had a probable diagnosis of meningitis based on clinical signs, and on the cytological and biochemical alterations in the cerebrospinal fluid routine examination. Viral meningitis (VM) was present in 140 children (45%), 58 had bacterial meningitis (BM - 19%) and etiology was undetermined in 114 (36%). In MB, Neisseria meningitidis was the most frequent etiological agent (25 cases). Predominant clinical symptoms were fever, sickness and headache. The cerebrospinal fluid test showed a high number of polymorphonuclear leukocytes, high protein and low glucose level in MB; mononuclear cells were predominant in VM. Neurological complications were more frequent in BM, and convulsion the most common symptom (6/58 patients). Death happened to one case in VM and 3 in BM. Our conclusions were that the classical triad (headache, vomiting and fever) was the most common clinical manifestation, the cytological and biochemical abnormalities were typical, helping in the differentiation of MB from VM, although a good number of cases ended up with no etiological definition and, finally, immediate neurological complications and death were rare.

Quality of life of children with cerebral palsy treated with botulinum toxin: are well-being measures appropriate?

AIM: To analyze quality of life (QOL) of children with cerebral palsy (CP) treated with botulinum toxin type A (BTXA). METHOD: Two QOL evaluation tools, translated into Portuguese, were used: Pediatric Outcomes Data Collection Instrument (PODCI) and Child's Caregiver Questionnaire (CCQ). Questionnaires were answered by caregivers on two occasions. Patients were divided into 3 groups: I--patients who had been previously treated with BTXA and who underwent a session of BTXA; II--patients who used BTXA for the first time; III--patients previously treated with BTXA but did not in this interval. RESULTS: Sixty-eight patients were evaluated. In group I (n=26) the functional ability had improvement for all types of CP (p=0.04), and tetraplegic increased interaction/communication (p=0.02). In group II (n=14) positioning improved (p=0.02). Group III (n=28) showed no change in QOL. CONCLUSIONS: PODCI and CCQ are able to capture outcome in children with CP.

Association of lamotrigine and valproate in refractory epilepsies of children and adolescents.

OBJECTIVE: To evaluate the efficacy or eventual side-effects of the association of lamotrigine and sodium valproate in the control of refractory epilepsies. METHOD: A retrospective analysis of 37 children with a mean age of 12 years taking exclusively lamotrigine and sodium valproate. Efficacy of seizure control was considered satisfactory if there was a reduction in seizures>50% or total control. RESULTS: The association of lamotrigine and sodium valproate was considered satisfactory in 65% of the studied children, independent of seizure type. Total seizure control was obtained in 33% and 35% had an unsatisfactory response or remained unchanged. Primary generalized tonic clonic seizures were the most common type with 84% of day-time seizures having a good response to treatment. Side-effects were seen in 11% of patients and the most common was tremor. CONCLUSION: Total or satisfactory control of seizures was seen in the majority of patients and side-effects were uncommon.

Association of lamotrigine and valproate in refractory epilepsies of children and adolescents / Associação de lamotrigina e valproato de sódio no tratamento de epilepsia refratária em crianças e adolescentes

OBJECTIVE: To evaluate the efficacy or eventual side-effects of the association of lamotrigine and sodium valproate in the control of refractory epilepsies. METHOD: A retrospective analysis of 37 children with a mean age of 12 years taking exclusivelly lamotrigine and sodium valproate. Efficacy of seizure control was considered satisfactory if there was a reduction in seizures >50 percent or total control. RESULTS: The association of lamotrigine and sodium valproate was considered satisfactory in 65 percent of the studied children, independent of seizure type. Total seizure control was obtained in 33 percent and 35 percent had an unsatisfactory response or remained unchanged. Primary generalized tonic clonic seizures were the most common type with 84 percent of day-time seizures having a good response to treatment. Side-effects were seen in 11 percent of patients and the most common was tremor. CONCLUSION: Total or satisfactory control of seizures was seen in the majority of patients and side-effects were uncommon.

OBJETIVO: Avaliar a eficácia ou eventuais efeitos colaterais da associação de lamotrigina e valproato de sódio no controle de epilepsia refrataria. MÉTODO: Análise retrospectiva de 37 crianças e adolescentes com idade média de 12 anos tratadas exclusivamente com lamotrigina e valproato de sódio. A eficácia do controle de crises foi considerada satisfatória se o controle das crises foi >50 por cento ou total. RESULTADOS: A associação de lamotrigina e valproato de sódio foi considerada satisfatória em 65 por cento, independente do tipo de crise. O controle total de crises foi obtido em 33 por cento e em 35 por cento a resposta foi insatisfatória ou permaneceu inalterada. Crise generalizada primaria tônico clonica foi o mais comum, com 84 por cento das crises ocorrendo durante o dia, com boa resposta ao tratamento. Efeitos colaterais foram vistos em 11 por cento dos pacientes, sendo tremor o mais freqüente. CONCLUSÃO: Controle total ou satisfatório das crises ocorreu na maioria dos pacientes, sendo pouco freqüente os efeitos colaterais.

Proton MR spectroscopy of the foramen of Monro region in patients with tuberous sclerosis complex.

PURPOSE: To evaluate with 1H-magnetic resonance spectroscopy (MRS) the metabolites rations of the foramen of Monro's region in patients with tuberous sclerosis complex (TSC). METHOD: Twelve patients with TSC and an age and gender-matched control group underwent MR imaging at a 1.5T scanner, and 1H-MRS at the foramen of Monro level with a multivoxel acquisition. Similar volumes of interest were selected in each side of the foramen of Monro and in the basal ganglia (lentiform nuclei). The obtained N-acetylaspartate (NAA), creatine (Cr) and choline (Cho) peak amplitude values and ratios were studied. The statistical analysis was performed and p<0.05 was considered statically significant. RESULTS: There was no significant difference between the NAA/Cr and Cho/Cr ratios near to the foramen of Monro and basal ganglia of the TSC patients compared with the controls (p>0.05). CONCLUSION: The NAA/Cr and Cho/Cr ratios near to the foramen of Monro and basal ganglia of TSC patients are similar to the rations obtained in the control group.

Proton MR spectroscopy of the foramen of Monro region in patients with tuberous sclerosis complex / Espectroscopia de prótons por RM da região do forame de Monro em pacientes com complexo esclerose tuberosa

PURPOSE: To evaluate with 1H-magnetic resonance spectroscopy (MRS) the metabolites rations of the foramen of Monro's region in patients with tuberous sclerosis complex (TSC). METHOD: Twelve patients with TSC and an age and gender-matched control group underwent MR imaging at a 1.5T scanner, and 1H-MRS at the foramen of Monro level with a multivoxel acquisition. Similar volumes of interest were selected in each side of the foramen of Monro and in the basal ganglia (lentiform nuclei). The obtained N-acetylaspartate (NAA), creatine (Cr) and choline (Cho) peak amplitude values and ratios were studied. The statistical analysis was performed and p<0.05 was considered statically significant. RESULTS: There was no significant difference between the NAA/Cr and Cho/Cr ratios near to the foramen of Monro and basal ganglia of the TSC patients compared with the controls (p>0.05). CONCLUSION: The NAA/Cr and Cho/Cr ratios near to the foramen of Monro and basal ganglia of TSC patients are similar to the rations obtained in the control group.

OBJETIVO: Avaliar através de espectroscopia de prótons as relações dos metabólitos da região do forame de Monro em pacientes com complexo esclerose tuberosa (CET). MÉTODO: Doze pacientes com CET e um grupo controle pareado por sexo e idade realizaram RM em aparelho de 1,5T, e a espectroscopia de prótons foi obtida ao nível do forame de Monro com aquisição multi-voxel. Volumes de interesse similares foram posicionados em cada lado do forame de Monro e nos gânglios da base (núcleos lentiformes). Os valores das relações e amplitudes de pico do N-acetilaspartato (NAA), creatina (Cr) e colina (Cho) foram estudados. A análise estatística foi realizada e valores de p<0,05 foram considerados estatisticamente significativos. RESULTADOS: Não houve diferença significativa entre as relações NAA/Cr e Cho/Cr na região do forame de Monro e nos gânglios da base dos pacientes com CeT comparados com os controles (p>0,05). CONCLUSÃO: As relações NAA/Cr e Cho/Cr na região do forame de Monro e nos gânglios da base de pacientes com CET são semelhantes àquelas obtidas no grupo controle.

Evaluation of the signs and symptoms of temporomandibular disorders in children with headaches.

PURPOSE: The purpose of this study was to evaluate the presence of signs and symptoms of temporomandibular disorders (TMD) in children with headaches in a neuropediatric ambulatory. METHOD: Fifty patients between 4 and 18 years of age were examined: 31 had headaches (24 migraine, 4 tension type and 3 unspecific headache) and 19 formed the control group. The data collection was comprised of a structured questionnaire answered by the children's parents, and a subjective evaluation about the childrens emotional state. A specific questionnaire for TMD was applied, followed by a clinical dental examination of the children. As signs of TMD, mouth opening limitation, mandibular trajectory deviation in opening mouth, and joint noise were considered. As symptoms, pain on palpation of masseter and temporal muscles and on the poromandibular joint. RESULTS: A significant increase in signs and symptoms of TMD was found in patients with headaches when compared to the control group. There was also a significant difference in signs and symptoms of TMD according to age (increased with age) and emotional state (tense>calm). CONCLUSION: There is a higher frequency of TMD in pediatric patients with headaches; thus, it is important to look for TMD signs and symptoms in this population.

Evaluation of the signs and symptoms of temporomandibular disorders in children with headaches

PURPOSE: The purpose of this study was to evaluate the presence of signs and symptoms of temporomandibular disorders (TMD) in children with headaches in a neuropediatric ambulatory. METHOD: Fifty patients between 4 and 18 years of age were examined: 31 had headaches (24 migraine, 4 tension type and 3 unspecific headache) and 19 formed the control group. The data collection was comprised of a structured questionnaire answered by the children's parents, and a subjective evaluation about the childrenÆs emotional state. A specific questionnaire for TMD was applied, followed by a clinical dental examination of the children. As signs of TMD, mouth opening limitation, mandibular trajectory deviation in opening mouth, and joint noise were considered. As symptoms, pain on palpation of masseter and temporal muscles and on the poromandibular joint. RESULTS: A significant increase in signs and symptoms of TMD was found in patients with headaches when compared to the control group. There was also a significant difference in signs and symptoms of TMD according to age (increased with age) and emotional state (tense> calm). CONCLUSION: There is a higher frequency of TMD in pediatric patients with headaches; thus, it is important to look for TMD signs and symptoms in this population.

OBJETIVO: Avaliar a presença de sinais e sintomas de disfunção temporomandibular (DTM) em crianças com cefaléias em um ambulatório de neuropediatria. MÉTODO: Foram examinados 50 pacientes com idade entre 4 e 18 anos, 31 com cefaléias (24 com enxaqueca, 4 com cefaléia tensional e 3 com cefaléia inespecífica) e 19 do grupo controle. Os dados compreenderam um questionário estruturado respondido pelos pais e uma avaliação subjetiva sobre o estado emocional das crianças. Foi aplicado um questionário específico para DTM e realizado um exame clínico dental. Foram considerados como sinais de DTM: limitação da abertura bucal, desvio da trajetória ao abrir a boca e ruído articular. Quanto aos sintomas, foram considerados: dor à palpação dos músculos masseter e temporal e na articulação temporomandibular. RESULTADOS: Foi encontrado um aumento significante de sinais e sintomas de DTM em pacientes com cefaléias quando comparados com o grupo controle. Houve, também, uma diferença significante de sinais e sintomas de DTM de acordo com a idade (aumento com a idade) e estado emocional (tenso>calmo). CONCLUSÃO: Há maior freqüência de sinais e sintomas de DTM no grupo de pacientes pediátricos com cefaléias, sendo importante avaliar essa patologia nessa população.

[Syncope in infants and adolescents]. / Síncope en la infancia y adolescencia.

AIM: To review the syncope in infants and adolescents as well as its etiology, clinical manifestations, physiopathology, diagnostic methods and treatment. DEVELOPMENT: The syncope is a clinical entity characterized by sudden and transient loss of consciousness and postural tone, with a quick and complete recovery. The syncope is frequent in children and adolescents. The most common cause is neurocardiogenic (vasovagal), which has a benign evolution. Other causes may be neurological, cardiac and metabolic diseases, with a variable prognosis, which may come to be severe and potentially lethal. Evaluation of the syncope is mainly based on present clinical history, and on a detailed clinical examination. Basic complementary exams may help on the diagnosis, as a glycemia test, determination of electrolytes (sodium, potassium, magnesium), a hemogram and an electrocardiogram. The Tilt Test is "the" test to confirm the neurocardiogenic syncope. Treatment is indicated in syncopes with recurrent episodes or with risk of physical lesions. Prevention and education are indicated for all patients. Specific treatment should be individually given to each patient. In the case of neurocardiogenic syncope, beta-blockers, alpha-adrenergic stimulants, serotonin reuptake inhibitors, and fludrocortisone are used. In the frequently recurrent neurocardiogenic syncope, when preventive actions are not enough or there is risk of lesions in consequence of falls, beta-blockers, alpha-adrenergic stimulants, serotonin reuptake inhibitors, and fludrocortisone are used, as well as a pacemaker for severe cases non-responsive to pharmacological treatment. CONCLUSION: The syncope is a frequent clinical entity in infancy and adolescence, with benign evolution but potentially lethal. Diagnosis and correct etiology are important for the implementation of specific and early treatment.

Status Dystonicus: study of five cases.

Status Dystonicus (SD) is characterized by generalized muscle contractions in dystonic patients. We report 5 cases of SD, two of which in patients with dystonic cerebral palsy, one in a patient with primary segmental dystonia, one in a patient with Hallervorden-Spatz syndrome and one in a patient with Wilson's disease (WD). Three patients were admitted to an intensive care unit and treated with propofol and midazolam, and two were submitted to neurosurgical procedures (bilateral pallidotomy and bilateral pallidal deep brain stimulation). Triggering factors were identified in three patients as follows: infection, stress-induced and zinc therapy for WD. On follow-up, two patients presented with significant improvement of dystonia, whereas the other three cases the clinical picture ultimately returned to baseline pre-SD condition.