RESUMEN
OBJECTIVES: To determine the incidence and study the causes and outcome of congenital brachial palsy (CBP). DESIGN: Active surveillance of newborn infants using the British Paediatric Surveillance Unit notification system and follow up study of outcome at 6 months of age. SETTING: The United Kingdom and Republic of Ireland. PARTICIPANTS: Newborn infants presenting with a flaccid paresis of the arm (usually one, rarely both) born between April 1998 and March 1999. MAIN OUTCOME MEASURES: Extent of the lesion at birth and degree of recovery at 6 months of age. FINDINGS: There were 323 confirmed cases giving an incidence of 0.42 per 1000 live births (1 in 2300). Significant associated risk factors in comparison with the normal population were shoulder dystocia (60% v 0.3%), high birth weight with 53% infants weighing more than the 90th centile, and assisted delivery (relative risk (RR) 3.4, 95% confidence interval (CI) 2.9 to 3.9, p = 0.0001). There was a considerably lower risk of CBP in infants delivered by caesarean section (RR 7, 95% CI 2 to 56, p = 0.002). At about 6 months of age, about half of the infants had recovered fully, but the remainder showed incomplete recovery including 2% with no recovery. The relative risk of partial or no recovery in infants with extensive lesions soon after birth compared with those with less extensive lesions was 11.28 (95% CI 2.38 to 63.66, p = 0.000005). CONCLUSIONS: The incidence of CBP in the United Kingdom and Republic of Ireland is strikingly similar to that previously reported nearly 40 years ago. Most cases are due to trauma at delivery, which is not necessarily excessive or inappropriate. Given the uncertainty about the appropriate management of these infants, serious consideration should be given to a formal clinical trial of microsurgical nerve repair.
Asunto(s)
Neuropatías del Plexo Braquial/congénito , Parálisis/congénito , Brazo/inervación , Peso al Nacer , Neuropatías del Plexo Braquial/epidemiología , Parto Obstétrico , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Irlanda/epidemiología , Masculino , Parálisis/epidemiología , Pronóstico , Reino Unido/epidemiologíaRESUMEN
A case of choledochal cyst with congenital hepatic fibrosis is described. This association is known but insufficiently recognized, as is the association between Caroli disease and choledochal cyst. We urge that a specific search be made for these related disorders when patients present with manifestations of one of these disorders.
Asunto(s)
Quiste del Colédoco/complicaciones , Cirrosis Hepática/congénito , Preescolar , Quiste del Colédoco/diagnóstico , Hepatomegalia/diagnóstico , Hepatomegalia/etiología , Humanos , Cirrosis Hepática/complicaciones , Cirrosis Hepática/diagnóstico , Masculino , Esplenomegalia/diagnóstico , Esplenomegalia/etiologíaRESUMEN
A teenager with left ventricular dysfunction complicating chronic incessant supraventricular tachycardia is described. He was unusual in his delayed presentation to hospital, despite having come to medical attention several years previously, and he showed an excellent response to flecainide.
Asunto(s)
Cardiomiopatía Dilatada/etiología , Taquicardia Supraventricular/complicaciones , Niño , Enfermedad Crónica , Flecainida/uso terapéutico , Humanos , Masculino , Taquicardia Supraventricular/tratamiento farmacológicoRESUMEN
We report an infant with meningococcal septicaemia and meningitis who had panophthalmitis at presentation that was unresponsive to standard systemic antibiotic treatment but which responded to topical steroid and mydriatic treatment. The pathogenesis may have been immune mediated.
Asunto(s)
Endoftalmitis/tratamiento farmacológico , Meningitis Meningocócica/tratamiento farmacológico , Administración Tópica , Antiinflamatorios/uso terapéutico , Ciclopentolato/uso terapéutico , Endoftalmitis/etiología , Humanos , Lactante , Masculino , Meningitis Meningocócica/complicaciones , Penicilina G/uso terapéutico , PrednisolonaAsunto(s)
Gastroenteritis/terapia , Humanos , Lactante , Alimentos Infantiles , Leche Humana , RecurrenciaRESUMEN
A child with a terminal deletion of chromosome 10 (q26) is described. A comparison of the phenotypic and cytogenetic features is made in the five reported cases of monosomy 10qter. No phenotypic features are found sufficiently characteristic to delineate a syndrome. Enzymatic activities for PGAMA and GOT1 were normal.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos 6-12 y X , Aspartato Aminotransferasas/metabolismo , Discapacidades del Desarrollo/genética , Humanos , Lactante , Masculino , Fosfoglicerato Mutasa/metabolismoRESUMEN
Twenty-six patients who had recovered from group A meningococcal meningitis were vaccinated with group C meningococcal polysaccharide and tetanus toxoid. Their haemagglutinating antibody response was measured two weeks later and compared with those of 22 siblings and 39 controls. Patients and siblings had a significantly lower antibody response to the group C vaccine but not to tetanus toxoid. This suggests that patients susceptible to meningococcal disease may have an immune defect involving their response to meningococcal polysaccharides.