Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome.

Trisomy 18 is a genetic disease resulting from an extra chromosome 18, characterized by a broad clinical spectrum, poor prognosis and low rates of survival. This is the case of a 12 year-old girl diagnosed with full trisomy 18, and multiple malformations, including Dandy-Walker Syndrome and congenital heart defects on long term survival. At nine months, a new echocardiogram showed a double outlet right ventricle, significant pulmonary stenosis, patent ductus arteriosus and ventricular septal defect. Cardiac surgery was performed at one year and seven months. Early surgical intervention and multidisciplinary follow-up may change the clinical outcome of the disease. Further studies are required to evaluate the benefit of invasive procedures such as cardiac surgery on survival of patients with trisomy 18.

Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.

SPOAN is an autosomal recessive neurodegenerative disorder which was recently characterized by our group in a large inbred Brazilian family with 25 affected individuals. This condition is clinically defined by: 1. congenital optic atrophy; 2. progressive spastic paraplegia with onset in infancy; and 3. progressive motor and sensory axonal neuropathy. Overall, we are now aware of 68 SPOAN patients (45 females and 23 males, with age ranging from 5 to 72 years), 44 of which are presented here for the first time. They were all born in the same geographic micro region. Those 68 patients belong to 43 sibships, 40 of which exhibit parental consanguinity. Sixty-one patients were fully clinically evaluated and 64 were included in the genetic investigation. All molecularly studied patients are homozygotes for D11S1889 at 11q13. This enabled us to reduce the critical region for the SPOAN gene from 4.8 to 2.3 Mb, with a maximum two point lod score of 33.2 (with marker D11S987) and of 27.0 (with marker D11S1889). Three genes located in this newly defined critical region were sequenced, but no pathogenic mutation was detected. The gene responsible for SPOAN remains elusive.

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

We describe an apparently new genetic syndrome in six members of a family living in a remote area in Northeastern Brazil. This syndrome comprises: short stature due to a marked decrease in the length of the lower limbs (predominantly mesomelic with fibular agenesis/marked hypoplasia), grossly malformed/deformed clubfeet with severe oligodactyly, upper limbs with acromial dimples and variable motion limitation of the forearms and/or hands, severe nail hypoplasia/anonychia sometimes associated with mild brachydactyly and occasionally with pre-axial polydactyly. This syndrome is apparently distinct from the syndrome of brachydactyly-ectrodactyly with fibular aplasia or hypoplasia (OMIM 113310), the syndrome of fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly (OMIM 228930), and from other previously described conditions exhibiting fibular agenesis/hypoplasia.

[Assessment of risk to neuro-psychomotor development: screening using the Test Denver II and identification of maternal risks]. / Avaliação de riscos ao desenvolvimento neuropsicomotor em crianças: triagem utilizando-se o Teste de Denver II e identificação de fatores maternos de risco.

PURPOSE: To identify a positive screening test for developmental delay in children by the Denver Test II and their risk factors. METHODS: A sample of 398 children was studied at 0 the 12 months of age regarding their neurodevelopment. The Denver II Test was used. The children who failed in two or more items of the test were suspected of having neurodevelopment delay. A set of independent variables was: socioeconomic, reproductive and environmental, birth conditions children's care. Analyses were performed using chi-square test and multivariate techinique logistic regression. RESULTS: At of 0 - 12 months of age, 45,73% (182) of the total of 398 children failed in the screening test. After adjusting for possible confounding variables, failure was associated with family lower income children, gestacional age less than 38 weeks, socioeconomic status family, schooling of the mother, mother's age, use of drug. CONCLUSIONS: This study demonstrates: 1--The Denver Test permited screening the delays development; 2--Maternal risk factors may interfere in the child's neurodevelopmental.

[Neuropsicologic evaluation of children with congenital and acquired hemyparesis--early results]. / Avaliação neuropsicológica de crianças com hemiparesia congênita e adquirida--resultados preliminares.

PURPOSE: To present the preliminary results of neuropsychological assessment for children with congenital and acquired hemiparesis with or not seizures. METHODS: Nine children at a age of 5 and 14 years old, were studied individually by one battery of test to neuropsychological assessment of cognitive function, language, gnosia, praxia visuo-motor and memory processing and emotional aspect. RESULTS: Children with hemiparesis demonstrated minimal or severe cognitive dysfuctions, impaired language abilities, poor visuo-motor and memory processing and alteration in emotional aspect. Acquired hemiparesis with seizures in childhood had a severe cognitive deficits, but congenital hemiparesis with or not seizures the neuropsychological assessment demonstrate minimal or moderate cortical deficits. CONCLUSIONS: Theses preliminary results demonstrated that congenital or acquired hemiparesis associated or not with seizures present cortical dysfuctions. The worst results was observed in acquired hemiparesis with epileptic seizures.

[Prediction of etiology based on the clinical type of convulsion in the neonatal period]. / Predição da etiologia baseada no tipo clínico das convulsões no período neonatal.

OBJECTIVE: To determine whether the seizure clinical type is predictive of etiology. METHODS: This is a prospective study from 9 neonatal and pediatric intensive care units. Neonatal seizures were defined clinically as described by Volpe. The seizures etiology was defined by positive clinical date, cranial sonogram and laboratory investigation routinely obtained in all neonates with seizures. Correlation between seizures type and etiologies was determined by Odds ration (OR). RESULTS: During one year 89 neonates develop neonatal seizures and the etiologies were determined. The mains seizures types were: subtle (n = 59; 66.3%), tonic (n = 27; 30.4%), clonic (n = 20; 22.4%), myoclonic (n = 4; 4.5%). The most frequent etiologies determined were: asphyxia (n = 60; 67.4%), hypocalcemia (n = 19; 21.3%), hypoglicemia (n = 14; 15.7%), peri-intraventricular hemorrhage (n = 13; 14%). The OR estimate that clonic seizures (OR 5.65 - 1.34 < OR < 23.61%) is predictive to peri-intraventricular hemorrhage. CONCLUSION: The OR estimate high risk to periventricular hemorrhage when the seizure is the clonic type. When the seizure is subtle type the risk is low to this etiology.

[Classification of seizures in childhood obtained from seizures symptomatology descriptions of parents and guardians]. / Classificação de crises epilépticas de crianças com base na descrição clínica dos pais ou responsáveis.

The aim of this study was to determine the frequency of seizures descriptions from parents and guardians of epileptic children which are useful for clinical classification of epileptic seizures. The data were obtained from 112 children using recurrent and spontaneous epileptic seizures as the selection criteria. The study was realized in two parts. In the part I the following aspects were studied: age of onset and the preictal, ictal and postictal symptoms. In the part II the specific kinds of seizures were classified by motor semiology, as convulsive and nonconvulsive, and by using the International League Against Epilepsy (ILAE,1981) scheme. The results showed that 42.9% patients present epileptic auras and 36.6% present lateralizing signs. Concerning the semiologic events were motor in 95.5%, neurovegetative in 56.3%, psychic in 32.1%, and neurosensorials in 4.5%. Finally, the ILAE schema classified the seizures as partial in 59.9%, as generalized in 27.2%, and as not classified in 12.5%. All findings demonstrate a good level of clinical semiology information from parents and guardians that allow us to classify 87.5% of the seizures, and identify auras and lateralized signs. Theses results permit us to conclud that if a standard protocol is used, the descriptions from parents and guardian of epileptic children appears to be very reliable to clinical classification of epileptic seizure.