Maria Valeriana L. Moura-Ribeiro

Fragile X syndrome: clinical, electroencephalographic and neuroimaging characteristics

We studied 11 patients (9 males) with cytogenetic diagnosis of fragile X syndrome (FXS) with the purpose of investigating the neural circuitry involved in this condition. The ages ranged from 8 to 19. All the individuals presented large ears, elongated faces and autistic features. Ten patients had severe mental retardation. Attention disorder was found in 10 individuals. Electroencephalographic recordings were abnormal in 6 of 10 patients examined, showing focal epileptiform discharges predominantly in frontal and parietal areas. All patients underwent magnetic resonance imaging studies which were abnormal in 8 of them. The most important abnormalities were reduction of the cerebellar vermis and enlargement of the IV ventricle. Single photon emission computerized tomography (SPECT) was performed in 7 patients and was abnormal in all of them, the most frequent finding being a hypoperfusion of the inferior of the frontal lobes. Based on the clinical picture, neuropsychological findings and functional and structural imaging studies we suggest that FXS presents with a dysfunction involving a large area of the central nervous system: cerebellum-basal frontal regions-parietal lobes. The literature points to a disturbance involving the same neural circuitry in patients with autism.

Prenatal and neonatal variables associated with enamel hypoplasia in deciduous teeth in low birth weight preterm infants

This study investigated possible prenatal and neonatal variables that may influence the prevalence of tooth enamel hypoplasia in preterm and low birth weight children (LBW) and a matched control group of term children with normal birth weight (NBW). The study sample consisted of 61 children born preterm and with LBW examined at 18-34 months of age. The control group was formed by 61 infants born full term and with NBW examined at 31-35 months of age. All children were born at the Center of Integrated Attention of Womens Health (CAISM-UNICAMP). FDI criteria were followed for dental examination. Medical data was collected retrospectively from hospital records. Among preterms, 57.4% had some type of developmental defects of enamel (DDE), 52.5 % had opacities and 21.3 % presented hypoplasia. Among full-term children, 24.6% presented DDE, 24.6% had opacities and 3.3% had hypoplasia. LBW preterm infants presented a higher prevalence of hypoplasia than NBW controls. The deciduous teeth most affected by hypoplasia were maxillary incisors. There was no significant association with prenatal variables; among neonatal variables there was a significant association with respiratory distress syndrome and neurological examination at discharge with an altered result.

Developmental study of early posture control in preterm and fullterm infants

In a prospective study, 10 infants born between 32 to 36 weeks of gestation and 10 infants born at fullterm were observed on day 15, and in months 1, 2 and 3. The investigation showed that the development of early postural control takes place in a sequential way in preterm infants, similar to that of in fullterm infants. However, some movement components for the acquisition of motor abilities showed a different trend in the development of preterm infants when compared to fullterm infants: the onset for the acquisition of the extensor and flexor patterns was slower and the distribution of the load bearing was less mature.

Epileptic manifestations induced by midazolam in the neonatal period

Antiepileptic drugs may cause worsening of epilepsy by aggravating pre-existing seizures or by triggering new seizure types. There are several reports of adverse effects related to midazolam, but only a few authors reported epileptic manifestations. We report four newborns seen at the Neonatal Intensive Care Unit of our University Hospital, who developed seizures a few seconds after the administration of midazolam. It is difficult to identify the patients at risk, but it is important to be aware and recognize this situation.

Processamento auditivo em criança com doença cerebrovascular

BACKGROUND: cerebrovascular disease (CVD) during childhood is a rare condition; its short, medium and long-term characteristics deserve further investigation. The application of behavioral techniques may improve clinical characterization, thus rendering more efficient therapeutic planning and control. AIM: to describe the audiological manifestations in a child with CVD in two distinct moments of clinical follow-up. METHOD: the child, with a confirmed diagnosis of a single and unilateral episode of CVD, presenting satisfactory cognition and language skills, was submitted to a battery of conventional and auditory processing tests, which included a simplified evaluation as well as monotic, dichotic, and temporal processing tests. The obtained data was paired with those of a normal right-handed child, of the same gender, age and socio-cultural level. RESULTS: results indicate impairments in auditory memory as well as in selective attention during binaural separation and integration tasks for verbal and non-verbal stimuli. CONCLUSION: clinical development, although favorable, was below the average expected for the same age when compared to the control. The prospective evaluation of a child with DCV permitted the characterization of the auditory behavior, the definition of its parameters as well as the development of the audiological characteristics.

Hemiparetic cerebral palsy: etiological risk factors and neuroimaging

The purpose of this paper, which was conducted on 175 children with hemiparetic cerebral palsy (H-CP), was to verify the etiological risk period for this disease. Etiological risk factors (ERF) were detected through anamnesis: 23% in the prenatal period, 18% in the perinatal period and 59% of the patients the period was undefined (ERF in the prenatal and perinatal period was 41% and no ERF was 18% of the cases. The computerized tomographic scan (CT) and MRI were performed on all the patients, who were then classified according to their etiopathogenic data: CT1= normal (18%); CT 2= unilateral ventricular enlargement (25%); CT 3= cortical/ subcortical cavities (28%); CT4= hemispheric atrophy and other findings (14%); CT 5= malformations (15%). CT 5 was associated with physical malformations beyond the central nervous system and with prenatal ERFs, while CT 2 was associated with the perinatal ERFs, mainly in premature births. Magnetic resonance imaging was performed on 57 patients and demonstrated a good degree of concordance with the CT. Etiology remained undefined in only 37% of the cases after neuroimaging was related to ERF. A high perinatal RF frequency (59%) was observed and emphasized the need for special care during this period.

Síndrome de Down e Moyamoya: Estudo através de metanàlise

We present a clinic-epidemiological study of two patients and meta-analysis (period 1977-2000 ) of the co-morbidity of the Down syndrome (DS) and moyamoya syndrome (MMS). Among the 42 patients listed in this survey, meta-analysis permitted to find the highest number of publications by researchers from Japan and United States, followed by Brazil and Italy; prevalence of cerebrovascular disease in suckling and pre school children; first symptomatology was hemiparesis (78.6%), speech disorders (26.2%); ischemic infarction (76.2%); recurring ischemic episodes (62%); bilateral impairment (83.3%). This analysis led to the conclusion that in the clinic-neurological investigation of DS patients with acute hemiparesis episodes, MMS should be included as the most probable diagnosis.

Neurological evaluation of neonates with intraventricular and periventricular hemorrhage

We studied the clinical aspects of 100 consecutive premature newborns with and without intraventricular and periventricular hemorrhage (IPVH). The diagnosis of IPVH was obtained by ultrasonic scans of the skull during the first week of life and at the age of one month. Forty eight percent of newborns with IPVH had abnormal results, and there was a significant correlation with the neurological evaluation in 85% of the infants. The probability of normality for a child with no associated brain abnormalities was 72%, whereas for a child of the same gestational age with associated brain abnormalities was 48.7%.

Doença cerebrovascular na infância: I. Manifestações epilépticas

Seizures may occur as a complication of cerebrovascular disease (CVD) and its prevalence, clinical presentation, risk factors and evolution have been reported by few authors. We evaluated 39 children with CVD and analyzed the association with seizures. Seizures occurred in 24 (61.5%) patients and were classified as partial (29.2%), generalized (54.2%) and secondarily generalized (16.6%). Infants had a significantly higher prevalence of seizures (p = 0.0362) than children at other ages. Cortical localization was associated with a significantly higher prevalence of seizures (p = 0.0101). There were no differences between ischemic and hemorrhagic strokes. Fourteen patients had no seizures after the acute phase of the CVD, the 2 previously epileptic patients had their seizures controlled with antiepileptic drugs, 3 developed epilepsy, 2 died during the acute phase and in 3 patients there was not enough time yet to make a clear diagnosis of epilepsy.

Cerebrovascular disease in newborn infants: report of three cases with clinical follow-up and brain spect imaging

The clinical and neurological findings of three neonates with the diagnosis of cerebrovascular disease are reported. The neuropsychological evaluation disclosed impairment of fine motor function, coordination, language, perception and behavioral disturbances. Brain SPECT imaging revealed perfusional deficits in the three cases.