[Continuous spike-wave activity during sleep. Electroencephalographic and clinical features]. / Espícula-onda contínua durante o sono. Aspectos clínicos e eletrencefalográficos.

Seventeen children were retrospectively evaluated. They exhibited continuous spike-wave activity during slow wave sleep (CSWS). Five of these had only speech problems and seizures (Landau-Kleffner syndrome) (group 1). The other cases had developmental milestones acquisition delay and/or mental retardation (group 2). Epileptic seizures were present in 11 of these, tetraparesis was observed in 5, hemiparesis in 2, microcephaly in 2 and behavior disturbances in 4 cases. The electroencephalogram showed in all cases diffuse CSWS. Group 1 showed diffuse activity, at times accentuated in the centrotemporal region (4/5). Group 2 had widespread discharges, including multifocal activity (5/12), sometimes with anterior predominance (7/12). We concluded that CSWS is a non specific electrographic pattern observed in some types of epilepsy in childhood that have different clinical presentation. It has however some topographic differentiation, depending upon the lesional sites.

Brain tumors in the first two years of life: a review of forty cases.

From 1962 to 1989, 40 infants with brain tumors and less than 2 years old were treated at the Department of Neurology of the Clinical Hospital of the University of São Paulo Medical School. The clinical and neuropathological findings were reviewed as to histological diagnosis, age, sex, signs and symptoms, therapy and outcome. Medulloblastoma was the most common histological type (n = 11), followed by ependymoma (n = 9), choroid plexus tumor (n = 6), astrocytoma (n = 3) and primitive neuroectodermal tumor (n = 2). The tumor was infratentorial in 21 infants, supratentorial in 18 and disseminated in 1.

Discontinuing medication in epileptic children: a study of risk factors related to recurrence.

We studied 70 children who had experienced at least two seizures before age 12 years, excluding febrile seizures, neonatal seizures, or seizures occurring during a metabolic, or infectious insult to the central nervous system (CNS) and who had been seizure free for at least 2 years. Twenty children (28.5%) experienced a recurrence, 75% during antiepileptic (AED) drug discontinuation or less than 6 months after discontinuation. Risk factors statistically related to seizure recurrence were greater than 10 seizures before seizure control, an abnormal EEG in the year before AED discontinuation, presence of focal neurologic signs and/or mental retardation, and presence of a mixed seizure pattern. Fourteen children (70%) with recurrence had two or more risk factors, whereas 36 (72%) without recurrence had no risk factor or only one. We conclude that a selected group of epileptic children who remain seizure-free for a period of at least 2 years can have AEDs discontinued based on presence or absence of risk factors.

Follow-up study of macrocephalic children with enlargement of the subarachnoid space.

Eighteen macrocephalic children with enlargement of the subarachnoid space (ESAS), with or without mild ventricular dilatation, were followed prospectively to a mean age of 56 months. All were born at term, with uneventful neonatal period and negative tests for congenital infections. There were 17 boys and 1 girl and the mean follow-up period was 46 months (8-58 months). The initial neurologic evaluation, between ages of 2 to 33 months, disclosed abnormalities in 2 cases. At the follow-up one was still abnormal and the other had a normal neurological examination. Another child, who had a normal neurological examination at the age of 5 months, at the age of 7 years and 7 months had an IQ of 77. Thus the abnormality rate at follow-up was 11%. The OFC returned to the normal range in 45% of the children at the follow-up period. There were no cases of intracranial hypertension. One infant had subdural taps performed at the age of 13 months that disclosed a fluid with the same characteristics as the CSF. All the children had a CT-scan performed at the beginning of the study that revealed a large subarachnoid space; in 77% it was associated with mild ventricular dilatation. Eleven had CT-scans repeated, during the study period, which showed resolution of the process in 3 cases, improvement in 2, and unchanged in 6. We conclude that enlargement of the subarachnoid space in macrocephalic children is often a benign entity. ESAS and macrocephaly will still be present in the majority of children in the long-term follow-up.

Follow-up study of macrocephalic children with enlargement of the subarachnoid space

Trata-se de estudo prospectivo de 18 crianças com macrocefalia por aumento do espaço sub-aracnóideo, com ou sem dilataçäo ventricular, seguidas até idade em média de 56 meses. Todas nasceram a termo, sem intercorrências perinatais e com testes negativos para TORCH. O tempo médio de seguimento foi 46 meses. Havia 17 meninos e apenas uma menina no grupo estudado. A porcentagem de anormalidades neurológicas no seguimento foi de 11%. Durante o seguimento, o perímetro cefálico retornou aos níveis da normalidade em 45% das crianças. Nenhum caso desenvolveu hipertensäo intracraniana durante o estudo. Todas as crianças realizaram TAC de crânio como parte da avaliaçäo inicial e, além do aumento do espaço sub-encefálico, 77% delas apresentavam discreta dilataçäo ventricular. No seguimento, 11 realizaram TAC de controle que revelaram resoluçäo completa do processo em 3 casos, melhora em 2 e permaneceram inalteradas em 6. Concluimos que o aumento do espaço sub-aracnóideo em crianças macrocefálicas é entidade que apresenta bom prognóstico neurológico na maioria dos casos e que a macrocefalia e o aumento do sub-aracnódeo continuaräo presentes, na maioria das crianças, no seguimento a longo prazo

Seizure recurrence in infants with neonatal convulsions. A follow-up study.

Twenty three infants with neonatal seizures were followed prospectively to a mean age of 11 months. Only 2 were pre-term and birth weight ranged from 1700 to 4230 grams, with 17 male and 6 female infants. Hypoxic-ischemic encephalopathy was the most common etiology (82.6%). Focal clonic convulsions were the predominant seizure type, present in 7/16 infants in which the seizure type could be identified. All infants had a neurological examination and EEG, and 18 had a cranial ultrasonography performed at the follow-up. Anticonvulsant medication was discontinued, if follow-up EEG and neurological examination were normal. At the follow-up, seizure recurrence was observed in 7/23 (30%) infants. Abnormal EEG, neurological examination and cranial ultrasonography were statistically correlated with seizure recurrence. We conclude that infants with neonatal seizures can remain free of anticonvulsant medication provided they have normal neurological examination, EEG and cranial ultrasonography.

Seizure recurrence in infants with neonatal convulsions: a follow-up study

Vinte e três crianças com crises convulsivas neonatais foram seguidas, prospectivamente, até idade em média de 11 meses. O peso ao nascimento variou de 1700 a 4230 gramas; 2 eram prê-termo; 17 eram meninos e 6, meninas. A encefalopatia hipóxico-siquênica foi a etiologia mais frequente (82,6%. Houve predomínio das crises clônicas focais, presentes em 7/16 crianças nas quais o tipo de crise foi identificado. Todas as crianças foram submetidas a exame neurológico e avaliaçäo eletrencefalográfia e, em 18 delas, foi realizado exame ultrassonográfico (US) de crânio durante o seguimento ambulatorial. A medicaçäo anticonvulsivante foi interrompida se o EEG e o exame neurológico eram normais no seguimento. A recorrência de crises foi observada em 7/23 crianças (30%). Houve relaçäo estatisticamente significante entre a recorrência de crises e anormalidades do exame neurológico, EEG e US de crânio. Concluimos que as crianças com crises convulsivas neonatais podem permanecer sem medicaçäo anticonvulsivante desde que näo apresentem anormalidades ao exame neurológico, ao EEG e ao US de crânio

[Macrosomia, macrocrania and motor disorders in childhood, Sotos syndrome (McKusick 11755): report of 7 cases and review of clinical aspects of 198 reported cases]. / Macrossomia, macrocrania e incoordenação motora da infância: síndrome de Sotos (McKusick 11755): estudo de 7 casos e revisão de aspectos clínicos de 198 casos publicados.

Children with Sotos syndrome have growth acceleration, macrocephaly, acromegaloid features and delay in neuropsychomotor development during infancy. Syndrome delineation and differential diagnosis are based on evaluation of phenotypic characteristics and evolutive history of the patients. Seven patients with this syndrome are reported, and the relative occurrence of the phenotypic characteristics present in 198 reported cases are reviewed. Motor difficulties present in those patients during early infancy are responsible for the poor performance on IQ tests. Oriented stimulation should be encouraged in order to help the affected children to overcome their initial difficulties and to achieve normal scholarity and life performance.

Macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Zonana syndrome): genetic heterogeneity or autosomal dominant locus with at least two different allelic forms?

We describe a boy with mild manifestations of the Bannayan-Zonana syndrome (BZS): large scaphocephalic head with marked frontal bossing, hypertrophy on the right side of the body, large and irregular café-au-lait spots, and cutaneous telangiectasia on large parts of the body and a cavernous hemangioma on the internal side of the left leg; soft cutaneous masses were present in the left axilla and inner part of the left arm; hypotonia and mild neurologic dysfunction were also present. BZS is reported as an autosomal dominant condition with variable expressivity; analysis of our data and those reported in the literature suggest that the interfamilial variability observed might represent different allelic mutations, or genetic heterogeneity.

[Recent advances in inborn errors of metabolism]. / Recentes avanços em erros inatos do metabolismo.

Four aspects of advances in inborn errors of metabolism (IEM) are analysed: 1) concerning the general comprehension of the pathogenesis, genic localization and genetic heterogeneity; 2) clinical aspects, with description of new variants of known IEM or new IEM; 3) laboratory diagnostic tests presently used in our country: dosage of some genetic markers (arylsulfatases, hexosaminidases, beta-glycosidase; beta-galactosidase and sphingomyelinase), newborn populational screening (for hyperphenylalaninemia, and hypothyroidism), heterozygote detection (for Tay-Sachs disease) and also some prenatal diagnosis; 4) therapeutic aspects presenting substitutive treatment, special diets, plasmapheresis and leukapheresis. The first results of 4 cases of mucopolysaccharidosis treated with the last technic are presented.

[Syndrome of calcifications of basal ganglia, leukodystrophy and chronic lymphomonocytic pleocytosis of the cerebrospinal fluid: report of a case]. / Síndrome de calcificações dos gânglios da base, leucodistrofia e pleocitose linfomonocitária crônica do líquido cefalorraqueano: registro de um caso.

Norman & Tingey (1966) reported a new syndrome of micrencephaly, strio-cerebellar calcifications and leucodystrophy and in 1968, Lyon & col. reported the same syndrome plus dwarfism. These authors did not describe cerebrospinal fluid (CSF) alterations. In 1984, Aicardi & Goutièrres described 8 children from 5 different families with a syndrome like above referred to but with chronic CSF lymphocytosis; all patients had a progressive evolution, with familial character, with probable autosomic recessive heritage. It is the purpose of this report to relate a case similar to Aicardi & Goutièrres' cases in a male caucasian patient of jewish ashkenazim origin with 6 and a half month of age, but with a study of CSF lymphocytes T and B. Diminished T-subpopulations of active and avid-T were found suggesting local signalization of antibodies in the central nervous system. The differential diagnosis and that strange combination of a probable genetic etiology and an immunitary process revealing a local inflammatory process are discussed.

[Benign familial chorea: report of 2 cases]. / Coréia familiar benigna: relato de dois casos.

Two cases (siblings) of benign familial chorea are reported. The family's pedigree shows an autosomic dominant form of inheritance with incomplete penetrance. The differential diagnosis is discussed as well a brief literature revision is made.

Intracranial abscesses in infancy and childhood: report of 40 cases.

Forty cases of brain abscesses in patients under 15 years of age observed between 1960 and 1982 are reported in this study. There has been a progressive decrease in the number of admissions due to that disease. The typical clinical picture was subacute and characterized by intracranial hypertension, fever, alterations in the level of consciousness, seizures and signs of localization in a decreasing order of frequency. Otites and sinusites predominated as primary foci and the most common localizations were frontal and parietal. Electroencephalogram and examination of the cerebrospinal fluid were useful. Currently, computerized tomography is indicated as the test of choice. Thirty-four patients underwent surgeries and the mortality rate was 35.2%.

[Menkes syndrome: review of the pathogenesis apropos of a clinico-pathological case]. / Síndrome de Menkes: revisão da patogenia a propósito de um caso anátomo-clínico.

The authors report a case of Menkes' syndrome, probably the first one described in Brazil. The patient, a 15-month-old boy, showed pili torti, early progressive psychomotor deterioration and seizures. Serum levels of ceruloplasmin and copper were very low. Neuroradiological and roentgenological examinations revealed diffuse cerebral atrophy, arterial changes and bone abnormalities. At the post-mortem examination the more consistent findings were cerebral atrophy, neuronal loss in the thalamus and above all cerebellar cortical lesions. The disease has a sex-linked recessive inheritance and is believed to be caused by an inborn error of copper metabolism, perhaps subordinated to changes of proteins which carry copper to different tissues. The relevant literature in relation to the pathogenesis is reviewed.

[Fanconi's anemia: report of 2 cases in the same family]. / Anemia de Fanconi: relato de dois casos na mesma família.

Two familial cases of Fanconi's anaemia are reported. The principal case shows the complete triad of anaemia, squeletic malformations and chromosome breakage, while in his brother only chromosome breakages were found.

[Jadassohn linear nevus sebaceous. Report of a case]. / Nevos sebáceo linear de Jadassohn. Registro de um caso.

Report of a case of linear nevus sebaceous of Jadassohn with the classical syndrome: 1) the facial linear nevus; 2) focal convulsions and 3) mental retardation. Skin biopsy didn't show proliferation of the sebaceous glands showing to be an early case. Computerized tomography showed slight cortico-subcortical atrophies, in contrast with the intensity of the mental retardation and focal crisis. Convulsions were controlled by several drug associations.

[Detection of inborn errors of metabolism in San Pablo, Brazil]. / Detección de errores congénitos del metabolismo en San Pablo, Brasil.

The authors report their experience in populational screenings, first regarding hyperphenylalaninemias at the city of S Paulo, by own programmation. In the same aminoacidopathies detection program, a similar methodology is being used in urine, in the children's health services of the State of S. Paulo. The same urine procedure is being used to select IEM of carbohydrates and mucopolysaccharides A programme similar to the one used for hyperphenylalaninemia is being performed for the detection of congenital hypothyroidism; T4 tests were made by radioimmunoassay (RIA) microtechnique in newborns and children in the first months of life. A similar experience in the detection of heterozygotes for GM2-ganglyosidosis type I (Tay-Sach disease) by performing the hexosaminidase A test is also reported. The importance of the performing of such populational screening tests, even in underdeveloped countries is stressed. Taking into account the high cost of the maintenance of patients with mental retardation (MR0, the cost of such programmes may become a saving whenever early diagnosis and therapy can avoid the MR.