Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation.

The DEPDC5 gene (OMIM #614191), mapped to 22q12.2-q12.3, encodes the DEP domain-containing protein 5. DEPDC5 has been associated with a variety of familial epilepsies, including familial focal epilepsy with variable foci, autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy, epileptic spasms, and cortical dysplasia.(1-4) Notably, DEPDC5 has never been linked to increased risk of sudden unexpected death in epilepsy (SUDEP). We report a family with epilepsy due to DEPDC5 mutation and 2 definite cases of SUDEP within this family.

Epilepsy transition: challenges of caring for adults with childhood-onset seizures.

OBJECTIVES: Children with severe chronic epilepsy are living longer, and they eventually transition to the adult health care system. Additional research is required to better define the population that is being transferred and the qualifications of those who are assuming their care. We aimed to evaluate the complexity of epilepsy patients transitioning between tertiary centers, and to evaluate neurologists' confidence in dealing with childhood-onset epilepsies. METHODS: Patients aged from 18 to 25 years were divided into two groups: Group 1 comprised patients referred from the pediatric tertiary center; and Group 2 comprised patients referred from the community. Clinical data were retrospectively studied and groups were compared using appropriate statistics. We also created a survey to evaluate neurologists' levels of confidence in diagnosing and treating childhood-onset epilepsies. Differences among responders were compared. RESULTS: Group 1 comprised 170 patients, whereas group 2 had 132. Patients in group 1 had earlier seizure onset, longer epilepsy duration (p < 0.001), and more patients with symptomatic etiologies, epileptic encephalopathy, and cognitive delay (p < 0.001). Group 1 patients required more referrals to other specialties (p = 0.001). Treatment with polytherapy (p = 0.003), epilepsy surgery (p < 0.001), ketogenic diet (p < 0.001), and vagus nerve stimulator were more common in group 1 (p < 0.001). In addition, our survey applied to adult (n = 86) and pediatric (n = 29) neurologists indicated that adult neurologists have lower levels of confidence in diagnosing and treating severe forms of childhood-onset epilepsies (p < 0.001), as well as epilepsy associated with cognitive delay (p < 0.001). SIGNIFICANCE: These findings suggest that patients from tertiary centers present more complex health care needs and require more resources than age-matched patients from the community; and that adult neurologists may not feel prepared to diagnose and treat adult patients with some childhood-onset epilepsies.

Remote spinal cord injury in mucopolysaccharidosis type IVA after cervical decompression.

Morquio A syndrome (Online Mendelian Inheritance in Man #253000) is a lysosomal storage disease caused by deficiency of N-acetylgalactosamine-6-sulfatase encoded by the GALNS gene. Key clinical features are skeletal dysplasia and short stature.

Hemimegalencephaly: what happens when children get older?

AIMS: Hemimegalencephaly (HME) is a rare congenital malformation of cortical development, usually associated with developmental delay and severe epilepsy. This condition has rarely been reported in adults. The aim of this study was to examine and compare neurological findings in adult patients with HME. METHOD: We retrospectively examined adult patients with HME by evaluating the presence of neurocutaneous disorders, current cognitive development, seizure control, and documentation of therapies for seizure management and outcomes. RESULTS: Five patients were included in the study (three males, two females; mean age 23 y 9 mo [SD 6 y 1 mo], range 18-34 y). Four patients had HME that was associated with neurocutaneous syndromes and the remaining patient had isolated HME. Two patients required surgical treatment for seizures in childhood. One patient had no intellectual disability, while one had mild, and three severe intellectual disability. All patients presented motor deficits ranging from mild hemiparesis in two patients to non-ambulation in one patient. Patients in whom seizure onset occurred after the 7 years of age had better seizure control and psychomotor development in adulthood than patients in whom seizure onset occurred in the first year of life. INTERPRETATION: In our small sample of adults with HME, age at seizure onset, cognitive disability, and seizure control were found to be associated.

Encefalite anti-receptor N-metil-D-aspartato na infância / Anti-N-methyl D-aspartate receptor encephalitis in childhood

OBJETIVO: Discutir o diagnóstico diferencial das encefalites além daquelas de etiologia infecciosa, e alertar os pediatras para a possibilidade do diagnóstico de encefalite anti-receptor N-metil-D-aspartato (rNMDA) na população pediátrica, destacando suas principais características clínicas. DESCRIÇÃO: Três pacientes apresentaram-se com uma síndrome neuropsiquiátrica inicial seguida de encefalopatia e transtornos de movimento. As características neuropsiquiátricas iniciais se desenvolveram ao longo de dias ou semanas, com mudanças comportamentais, ansiedade, confusão mental e regressão da fala. Em seguida, os pacientes evoluíram com distúrbios de movimento, caracterizados por coreoatetose ou distonia, acometendo a região orofacial e os membros. Após a exclusão das principais causas de encefalite, foram identificados anticorpos anti-rNMDA no soro e no líquido cefalorraquidiano. Não foram detectadas neoplasias durante a investigação etiológica. Os pacientes foram submetidos a imunossupressão, e dois deles tiveram uma recuperação neurológica completa. Um deles ainda apresenta uma postura distônica leve em um dos membros. COMENTÁRIOS: Os sinais clínicos de encefalite anti-rNMDA em crianças são semelhantes aos anteriormente descritos em adultos. Tumores geralmente não são detectados nessa idade. O diagnóstico de encefalite anti-rNMDA deve ser abordado após a exclusão de outras causas de encefalite na infância, como as de origem infecciosa. Pediatras devem estar atentos a essa condição autoimune passível de tratamento.

OBJECTIVE: To discuss the differential diagnosis of encephalitis beyond that of infectious etiology and to inform pediatricians about the possibility of anti-N-methyl-D-aspartate receptor (NMDAr) encephalitis in children by highlighting its most important clinical features. DESCRIPTION: Three patients presented with an initial neuropsychiatric syndrome followed by encephalopathy and movement disorder. The initial neuropsychiatric features which developed over days to weeks included a change in personality, anxiety, confusion, and speech regression. This was followed by a choreoathetoid or dystonic movement disorder affecting the orofacial region and the limbs. After the exclusion of the major causes of encephalitis, NMDAr antibodies were identified in serum and cerebrospinal fluid, and neoplasm screening did not detect any tumor. Patients were submitted to immunosuppression, and two of them had a full neurological recovery. One of them still presents a mild dystonic posture in a limb. COMMENTS: Clinical signs of anti-NMDAr encephalitis in children are similar to those previously described in adults. Tumors are not usually detected by this age. The diagnosis of anti-NMDAr encephalitis must be addressed only after the exclusion of infectious and other recognizable causes of encephalitis. Pediatricians should be aware of this treatable autoimmune condition.

Anti-N-methyl D-aspartate receptor encephalitis in childhood.

OBJECTIVE: To discuss the differential diagnosis of encephalitis beyond that of infectious etiology and to inform pediatricians about the possibility of anti-N-methyl-D-aspartate receptor (NMDAr) encephalitis in children by highlighting its most important clinical features. DESCRIPTION: Three patients presented with an initial neuropsychiatric syndrome followed by encephalopathy and movement disorder. The initial neuropsychiatric features which developed over days to weeks included a change in personality, anxiety, confusion, and speech regression. This was followed by a choreoathetoid or dystonic movement disorder affecting the orofacial region and the limbs. After the exclusion of the major causes of encephalitis, NMDAr antibodies were identified in serum and cerebrospinal fluid, and neoplasm screening did not detect any tumor. Patients were submitted to immunosuppression, and two of them had a full neurological recovery. One of them still presents a mild dystonic posture in a limb. COMMENTS: Clinical signs of anti-NMDAr encephalitis in children are similar to those previously described in adults. Tumors are not usually detected by this age. The diagnosis of anti-NMDAr encephalitis must be addressed only after the exclusion of infectious and other recognizable causes of encephalitis. Pediatricians should be aware of this treatable autoimmune condition.

Encefalopatia de Wernicke em criança com doença de Crohn / Wernicke encephalopathy in a child with Crohn disease

OBJETIVO: Descrever um caso de encefalopatia de Wernicke associada à doença de Crohn na infância. DESCRIÇÃO DO CASO: Menino de cinco anos, com diagnóstico de doença de Crohn por colonoscopia com biópsia há um ano; desde então, fez uso de diversos medicamentos sem resultados terapêuticos. Evoluiu com pancreatite há três meses, quando foi iniciada nutrição parenteral. Apresentou subitamente sonolência, episódios de frases desconexas e alteração da movimentação ocular. O exame neurológico evidenciou nistagmo vertical para cima em todas as posições e nistagmo horizontal no desvio conjugado do olhar. A ressonância magnética do encéfalo mostrou alterações compatíveis com a encefalopatia de Wernicke, sendo instituído o tratamento com tiamina parenteral imediatamente, com reversão completa dos sintomas por volta do 30º dia de tratamento. COMENTÁRIOS: Embora seja uma entidade rara, deve-se suspeitar de encefalopatia de Wernicke frente à presença de fatores de risco, uma vez que o tratamento imediato evita as sequelas neurológicas.

OBJECTIVE: To report a case of Wernicke encephalopathy associated with Crohn disease in childhood. CASE DESCRIPTION: A five year-old boy with Crohn disease, diagnosed by colonoscopy and biopsy one year ago; he has been treated with many different medications without results. During the past year, the patient was diagnosed with pancreatites and has received parenteral nutrition since then. After three months, the child suddenly presented drowsiness, meaningless speech and ocular movement disturbance. Neurologic examination disclosed upbeat nystagmus in all positions and horizontal nystagmus during conjugate deviation of the eyes. Magnetic resonance showed abnormalities consistent with Wernicke encephalopathy. Parenteral thiamine has been administered soon after diagnosis and by the 30th day of treatment, recovery of symptoms was complete. COMMENTS: Despite being a rare entity, neurological symptoms associated to the presence of risk factors such as prolonged parenteral nutrition should suggest Wernicke encephalopathy. Immediate treatment is important to avoid neurological disabilities.

Achados clínico-laboratoriais de uma série de casos com endocardite infecciosa / Clinical and laboratory findings in a series of cases of infective endocarditis

OBJETIVO: Descrever os achados clínico-laboratoriais da endocardite infecciosa (EI) em 28 crianças, em Vitória/ES. MÉTODO: Estudo retrospectivo dos prontuários de 28 crianças, com idade abaixo de 18 anos e diagnóstico de endocardite infecciosa, internadas no serviço de infectologia do Hospital Infantil Nossa Senhora da Glória, em Vitória - Espírito Santo, no período de janeiro de 1993 a dezembro de 2001. Os critérios para diagnóstico de endocardite infecciosa foram os do Duke Endocarditis Service (Duke University, Durham, North Carolina - USA): critérios maiores (hemoculturas e ecocardiograma positivos) e critérios menores (febre, doença cardíaca prévia, sopro cardíaco recente, fenômenos vasculares e imunológicos). Através de protocolo específico, preenchido pelos médicos-residentes e acadêmicos do serviço de infectologia, e revisados pelos médicos da equipe, foram anotadas as idades, sexo, achados clínicos e laboratoriais, e os resultados da ecocardiografia transtorácica das 28 crianças que preenchiam os critérios clínicos e laboratoriais. Em todos os casos, as hemoculturas foram realizadas com coleta do sangue (três amostras), sob condiçöes assépticas e com inoculaçäo em meios aeróbicos e anaeróbicos, incubados a uma temperatura de 37ºC e testados com sistema automatizado Vitec System« (Biolab). RESULTADOS: Das 28 crianças, 16 eram do sexo masculino, com idade entre 3 e 180 meses (média 70,6±59,2 m), e a maioria (68 por cento) era procedente da regiäo metropolitana de Vitória. Metade apresentava cardiopatia prévia. Os achados clínicos mais freqüentes que levaram à suspeita de EI foram: febre prolongada (100 por cento), sopro cardíaco (67,9 por cento), dispnéia (57,1 por cento), hepatomegalia (57,1 por cento), fenômenos vasculares (32,2 por cento), esplenomegalia (28,6 por cento) e nódulos de Osler (7,1 por cento). Foram colhidas hemoculturas dos 28 casos, sendo 16 (57,1 por cento) positivas. O S. aureus adquirido na comunidade foi o germe mais freqüentemente isolado (9/16-56,6 por cento). Houve persistência da febre, apesar do tratamento, duraçäo da febre de 2,5 a 30 dias, mediana de 18,0 dias. O valor médio de leucócitos à internaçäo foi de 11.657±7.085mm . O ecocardiograma transtorácico, realizado em todos os pacientes, evidenciou vegetaçöes, principalmente nas válvulas tricúspide (25,0 por cento), mitral (25,0 por cento) e na borda de CIV (28,6 por cento). Treze (46,4 por cento) crianças apresentaram sepse concomitante, e três (10,7 por cento)...