Alfredo Löhr Júnior

Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome

INTRODUCTION X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. Karyotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea.

Etiologia e a morbi-letalidade do coma agudo em crianças

OBJECTIVE An analysis was conducted on the etiology and the morbi-mortality of pediatric patients in acute coma, hospitalized at the Intensive Care Unit of Hospital Infantil Pequeno Príncipe (UTI-HIPP). METHOD One hundred and four control sheets of children hospitalized at the UTI-HIPP and diagnosed as being in acute coma were analyzed. The Glasgow coma scale duly modified for children was used, with a score count equal to or lower than 8 points. The observation period was from March/98 to January/2001. All the supplementary exams as well as the neurological conditions of the patients when discharged were analyzed. RESULTS The study comprised 104 children whose ages varied from 2 months to 13 years, with 57 (54.8%) of them being males. Hospital - stay time varied from 1 to 114 days, plus 3 cases in a persistent vegetative condition. As regards to etiology, 31 (29.8%) of the cases were due to meningo-encephalitis, 24 (23.1%) to an epileptic condition, 19 (18.3%) were toxic-metabolic, 16 (15.4%) to intra-cranial hypertension, 7 (6.7%) to shock/anoxia, 4 (3.8%) to an indeterminate etiology and 3(2.9%) were miscellaneous. Insofar as the clinical evolution of the children is concerned, 23 (22.1%) died, 32 (30.8%) evolved without any sequelae, 39 (37.5%) were discharged with neurological sequelae and for 10 (9.6%), no information is available. CONCLUSION According to this study, one third of the children has died, one third presented neurological sequelae, and one third presented no further complications.

Conduta frente à criança com trauma craniano

Objetivo: informar ao pediatra sobre uma visao atual do manejo do trauma craniano em criancas menores e maiores de 2 anos; facilitar a compreensao e permitir uma reflexao dos cuidados necessarios ao atendimento da crianca com traumatismo craniano. Fontes dos dados: revisao bibliografica sobre o tema, utilizando-se como base de dados o Medline. Sintese dos dados: foram analisados os aspectos gerais epidemiologicos, o conceito e a fisiopatologia do dano cerebral traumatico. Discute-se a avaliacao da gravidade do traumatismo cranioencefalico nas diferentes faixas etarias, com a opiniao de diferentes autores e com o posicionamento atual sobre os criterios de internamento, solicitacao de exames complementares e abordagem terapeutica. Discute-se, ainda, o valor dos exames de neuroimagem no trauma craniano, e, por fim, as estrategias de prevencao e conclusoes. Conclusoes: a maioria dos casos de traumas cranianos em criancas sao classificados como de natureza leve. Nao obstante, mesmo sendo considerados da forma leve, em se tratando da populacao pediatrica, a apresentacao clinica muitas vezes e assintomatica, e com alteracoes de neuroimagem, fazendo com que o manejo nessa faixa etaria seja diferenciado do trauma craniano em adultos.

Challenges in the surgical treatment of epilepsy: hypothalamic hamartoma in infancy - case report

INTRODUCTION: Hypothalamic hamartoma is a rare congenital malformation, characterized by epilepsy, especially gelastic seizures, psychomotor developmental delay, mental retardation, behavioral disorders and precocious puberty. Epilepsy has early onset and is usually medically refractory. Etiology and pathophysiological mechanisms are unclear. The EEG can present disorganization and slowing of background activity and multifocal and/or generalized epileptogenic discharges. OBJECTIVE: To report the difficulties and challenges of neurosurgical treatment of a hypothalamic hamartoma in an infant. CASE REPORT: Infant with seizures since eight months old of age. The neurological investigation revealed a lesion in tuber cinereum suggestive of hamartoma. The epilepsy evolved with resistance to antiepileptic drugs, requiring neurosurgical procedure. The endoscopic resection could not be performed because the hamartoma was firmly attached to the hypothalamus. Currently, the child remains with tonic, clonic and atonic seizures. DISCUSSION: Lesionectomy performed by microsurgery or radiosurgery seems to be the most effective treatment for seizure control in patients with hypothalamic hamartomas who do not respond to clinical treatment. Callosotomy may be effective in selected cases, and lobectomy/cortical resections are not related to seizure control. In some patients, particularly in infants, lesionectomy and radiosurgery may be technically unfeasible.

Ictal patterns in children: an illustrated review

Detailed knowledge of electroencephalographic patterns accompanying epileptic seizures in children is paramount to the correct identification of epileptic seizures and syndromes. In this article, we present a review of ictal patterns of different seizure types in children, illustrating with examples collected in our video-EEG laboratory at Pequeno Principe Hospital.

First unprovoked seizure: clinical and electrographic aspects

OBJETIVO: Avaliar a classificacao, resultados de EEG e de neuroimagem apos a primeira crise epileptica nao-provocada em uma populacao pediatrica. METODOLOGIA: Pacientes atendidos entre maio de 2000 e maio de 2005 com diagnostico de primeira crise epileptica nao-provocada. Todos foram submetidos a EEG e tomografia de crânio nas primeiras 72 horas apos o evento. As crises foram classificadas segundo a Classificacao da ILAE, 1981. RESULTADOS: 387 pacientes, sendo 214 (55.30%) do sexo masculino, com idade media de 4.2 anos. O desenvolvimento neuropsicomotor foi normal em 315 (81.40%) pacientes. Classificacao das crises: 167 (43.15%) generalizadas, das quais a mais frequente foi a crise tonico-clonica (105/62.85%), seguida pelas crises de ausencia tipica (22/13.17%), clonica (20/11.98%), tonica (13/7.78%) e atonica (7/4.19%). Crises focais: 220 (56.85%), sendo a crise parcial complexa com generalizacao secundaria a mais frequente (81/36.82%). EEG normal em 208 (53.75%) casos. A anormalidade mais observada na tomografia de crânio foi atrofia cerebral. CONCLUSOES: A maioria das criancas apresentou desenvolvimento neuro-psicomotor normal apos a primeira crise epileptica nao-provocada. Crises parciais foram mais frequentes que as generalizadas. EEG realizado precocemente identifica paroxismos interictais ou alentecimentos focais em praticamente metade dos pacientes.

Interictal electroencephalogram: sensibility in the diagnosis of epileptic seizures in childhood

INTRODUCTION: It is currently estimated that more than 10 million children all over the world have epilepsy and the EEG is the most commonly used diagnostic test in the investigation of these patients. The aim of this study was to analyze the sensibility of the EEG in revealing abnormalities in children with the clinical hypothesis of an epileptic seizure. METHODS: Out of 970 EEGs obtained between April 2005 and August 2006 at Pequeno Principe Childrens Hospital, Curitiba, PR, Brazil, 692 fit the criteria proposed (clinical hypothesis of an epileptic seizure after the evaluation of a pediatric neurologist). All EEGs were recorded digitally, with minimal duration of 20 minutes and electrodes positioned according to the International System 10-20. Neonates were excluded. RESULTS: Age ranged from 30 days to 16.5 years (mean of 6.4 years and median of 4.1 years), 403 were female (58.2%). Out of the 692 EEG included in the study, 281 (40.6%) yielded abnormal results, 96 (34.2%) with abnormalities of the background activity (disorganization and/or asymmetry) and 185 (65.8%) with epileptiform paroxysms. The sensibility of the EEG was 40.6%. Sharpe wave occurred in 77 cases (41.6%), spike in 21 (11.4%), polispike in 14 (7.6%), spike-wave in 17 (9.2%), polispike-wave in 24 (13.0%) and exams with discharges of more than one morphology in 32 (17.3%). CONCLUSION: Our data strengthen the concept that even though the diagnosis of epilepsy is clinical and based on the semiological description of the epileptic crisis, the EEG has a good sensibility when properly indicated.