RESUMO
We describe a neonate of 38-week and 6-day gestation born by lower uterine cesarean section for breech presentation, where it was evident on delivery that there was significant edema of the right arm from the deltoid to the distal tips of the fingers. Doppler flow ultrasound revealed extensive arterial thromboembolus. Intravenous heparin was prescribed for three days at a dose of 27.5 U/kg/h, targeting an activated partial thromboplastin time (APTT) of 60-75 seconds, followed by a course of subcutaneous enoxaparin at a dose of 1.8 mg/kg and then 2 mg/kg twice daily, titrated to a factor Xa level of 0.5-1.0 U/mL for another three days. Significant clinical improvement occurred and the child was eventually, discharged on subcutaneous enoxaparin. Magnetic resonance imaging showed multiple intracranial abnormalities. At five months increased upper limb tone, brisk reflexes, and small head circumference were noted. At one year, increased tone and increased paucity of movement on the right side persisted, and some speech delay and visual inattention were noted. Recent follow-up at 16.5 months of age demonstrated a right sided hemiplegia with increased tone and brisk reflexes. We describe the case in detail and review current knowledge regarding the management of arterial thrombosis in the neonate.
RESUMO
UNLABELLED: Carbohydrate-deficient glycoprotein syndromes may occur as a primary result of distinct genetic disruption of the enzymes involved in processing the carbohydrate moeities of glycoproteins. They may also occur due to a number of secondary defects in glycosylation. CONCLUSION: A female infant with an unbalanced chromosomal translocation [46,XX,der(21)t(17;21) (p13.1;q22.11)mat.ish der(21)t(17;21) (D17S375 x 3, D21S65-)] and with biochemical and clinical features of a carbohydrate deficient glycoprotein syndrome is reported. This chromosomal disruption is another secondary cause of the disorder.
Assuntos
Defeitos Congênitos da Glicosilação/genética , Translocação Genética , Defeitos Congênitos da Glicosilação/metabolismo , Evolução Fatal , Feminino , Glicoproteínas/sangue , Humanos , Recém-NascidoRESUMO
Visual-perceptual, attentional, and visual-motor skills were examined in a group of 16 school-age children, born at 27-32 gestational weeks, who had performed normally on pediatric screening tests. Compared with 16 matched full-term controls, the preterms performed poorly on only two measures: they took longer to point to the missing arc of an annulus displayed on a computer screen and failed to find targets more often in a complex visual search task. They showed no deficits on tests of visual form extraction and closure. These data suggest that in the absence of any disability that is clinically detectable, prematurity results in a cluster of small but significant visual-motor impairments that persist into middle childhood. These relate to the maintenance of attention and visual-motor coordination, though visual form perception is not measurably affected. The results are discussed in the context of current neurobiological models of visual system organization.
Assuntos
Desenvolvimento Infantil/fisiologia , Recém-Nascido Prematuro/psicologia , Desempenho Psicomotor/fisiologia , Percepção Visual/fisiologia , Análise de Variância , Atenção/fisiologia , Criança , Feminino , Percepção de Forma/fisiologia , Humanos , Recém-Nascido , Masculino , Testes Neuropsicológicos , Fechamento Perceptivo/fisiologia , Mascaramento Perceptivo/fisiologia , Tempo de Reação , Estudos Retrospectivos , Volição/fisiologiaRESUMO
Partial cardiopulmonary bypass with extracorporeal membrane oxygenation to allow bilateral bronchopulmonary lavage in pulmonary alveolar proteinosis has been described. However, this technique is complicated by a very low arterial PO2 and cardiovascular embarrassment. Total cardiopulmonary support avoids these problems and was successfully used in a 2 1/2-year-old girl.