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.

Median cleft face syndrome or frontonasal dysplasia: a case report with associated kidney malformation.

The authors present a case of an 11-month-old girl with the medial cleft face syndrome and the following malformations: ocular hyperterolism, primary telecanthus, cleft nose with absent tip, broad nasal root, complete absence of the left upper lid, and abnormal hair-line implantation in the corresponding frontal region, high arched palate, neurosensorial deafness and agenesia of the right kidney. The authors propose that the eyelid is responsible for the area of hair growth suppression around the eyes. This is the first case report of median cleft face syndrome associated with renal agenesia.

[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.

Cephalic measures in normal pre-school children 3 to 7-years of age.

In a study designed to determine standards for the Developmental Neurological Examination (DNE) several measures of the head were also recorded. The study consisted in the examination of 200 children, half from each sex, 40 from each age group (3 to 7-years of age). These children were selected among 755 normal pre-school-age children, living in the city of São Paulo, Brazil). The criteria for selection were both anamnestic and clinic. The following measures of the head were recorded: cephalic perimeter, biauricular and antero-posterior distances (Diament, 1967). A new cephalic index (nCI) was also determined (Diament, 1968). This index is useful in detecting changes in head shape mainly in cases of precocious cranioestenosis (Diament, 1968; Facure, 1972). The statistical analysis consisted in determining means and standard errors for each measure. For the new cephalic index it was shown through the Kruskal-Wallis test that there were no significant difference between age and sex. Therefore we considered all groups together to find out the tolerance region for the new index which turned out to be given by the interval: 0.848-1.002. This result is based in 186 cases since 14 were excluded because of some problems in the recording process. Therefore we expect with a conficence of 95% that the above interval covers 90% of the population, in the 3 to 7 years age-groups independently of sex.

[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.

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%.

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.

[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.

[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.

[Neurologic evolution of children of low birth weight]. / Evolução neurologica de crianças de baixo peso ao nascimento

The prematurity is still an important problem for either pediatricians and neuropediatricinas. All the mechanisms that can produce lowbirth weight, are not known, although many of them are related to genetics and environmental intra-uterine factors. Having in mind tha study of the development of such type of children, a group of investigators has been working for 9 years now, envolving aspects related to the Pediatry, Social Pediatry, Neuropediatry, Psychiatry, Otorhynolaringology, Ophtalmology and Odontology. In this study they are trying to envolve all the possible aspects on growth and development of children with lowbirth weight. In 189 children, 129 were followed during several years. Most of them were observed up to 5 years of age and few of them up to 9 years of age. The children were divided into three groups as follow: Group I-Children with weights under 1.750 g; Group II-Children with weights between 1.751 and 2.000 g; Group III-Children with weights over 2.001 g and under 2.500 g. The neurol-gical tests were done according to the used system at the Neurologic Clinic of the Faculty of Medicine (University of São Paulo). The present work starts with a general revision on the most important existent papers on the prematures neurological evolution. After presenting his own results, the authors make a correlaction of the neurologic evolution with the developmental quotient (DQ), which were gotten through Gesell's tests and its variations, in order to verify the existence of what is known as "continuum of lesion" of Knobloch and col.

[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.

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.

[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.

[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.

[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.