Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation.

A 9-year-old boy with multiple abnormalities including severe bilateral microphthalmia, diaphragmatic hernia and Fallot's tetralogy is presented. He has also been shown to have an apparently balanced de novo reciprocal translocation, 46,XY,t(1;15)(q41;q21.2), which suggests that one of those breakpoints may be the locus for a gene which is important in morphogenesis.

Paediatric medical outpatients: are all those reviews necessary?

The value of and need for paediatric outpatient review attendance as perceived by parents, children, consultants, and general practitioners (GPs) were assessed. One hundred and ninety one parents of 239 children over 7 years of age undergoing review were randomly selected for a semistructured interview. For each parent interviewed, an audit questionnaire was completed after case note review by another paediatrician. A random sample of the patients' GPs was surveyed by postal questionnaire. Twenty per cent of parents and 26% of GPs felt that the GP could care for the child as well as or better than the hospital, whereas only 6% of consultants felt this to be so. Regarding future attendance of the child at the hospital, 48% of parents and 32% of GPs felt the child could either be discharged or seen when parents were worried, whereas consultants felt 24% of patients should have been discharged.

Falling incidence of hypoxic-ischaemic encephalopathy in term infants.

OBJECTIVE: To examine trends in the incidence of hypoxic-ischaemic encephalopathy over a 13-year period. DESIGN: A retrospective analysis of medical records of all infants admitted in the years 1976-1980 and 1984-1988. SETTING: A large non-teaching district health authority in central England. SUBJECTS: Infants admitted to a district general hospital neonatal unit with clinical features of hypoxic-ischaemic encephalopathy. MAIN OUTCOME MEASURES: Incidence of three grades of hypoxic-ischaemic encephalopathy, handicap and mortality. RESULTS: During the first 5-year period the overall incidence of hypoxic-ischaemic encephalopathy was 7.7 per 1000 live births with 2.6 per 1000 live births being severely affected (grades II and III). In the second 5-year period the overall incidence was 4.6 per 1000 live births with 1.8 per 1000 live births being severely affected. The difference in the overall rate is statistically significant. Of the infants with severe encephalopathy 61% had Apgar scores below 4 at 1 min and 60% were born by instrumental or operative delivery. CONCLUSIONS: The fall in incidence of hypoxic-ischaemic encephalopathy has occurred during a period of falling perinatal mortality rate. It was instructive to find that infants born vaginally and without obstetric intervention formed a larger fraction of the severely affected infants in the later period.

Congenital ocular motor apraxia.

Nine patients with congenital ocular motor apraxia (COMA) are presented and the natural history of this condition is considered. Two presented in early infancy, before the onset of the head thrust, and the means of establishing the diagnosis at this age are discussed. All exhibited motor delay in infancy which lessened, but did not completely resolve, with time. Conceptual delay, particularly with speech, affected all in early childhood. Three had agenesis of the corpus callosum and 2 cerebellar abnormalities. The autopsy of one infant showed cerebellar cortical dysplasia. The pathogenesis of COMA remains unknown and it is possible that agenesis of the corpus callosum and cerebellar hypoplasia are markers indicative of early CNS maldevelopment and not an integral part of the mechanism of COMA.

Variable clinical presentation of cutis laxa.

We present 2 families with 4 individuals suffering from congenital cutis laxa. Family A has a single affected male child with developmental delay and ligamentous laxity, making this only the second male of the total 15 patients so far reported with this particular syndrome. Family B has 3 affected males, 2 of whom have significant involvement of other systems. Only one of the 4 affected children had very obvious loose skin folds and dependency on this clinical feature alone could result in under-diagnosis of this disease. The clinical features and family pedigree information suggests recessive inheritance in Family B but the mode of inheritance in Family A is inconclusive.

Primary thalamic haemorrhage in the newborn: a new clinical entity.

4 healthy full-term babies presented between 11 and 14 days of age with neurological abnormalities. Eye signs in 3 suggested involvement of tracts closely related to the thalamus. Spontaneous intrathalamic haemorrhage was confirmed with computed tomography and real-time ultrasound scans. Ventricular dilatation occurred in 3 babies and 2 of these needed ventriculoperitoneal shunts. The short-term neurodevelopmental outcome was fairly good.

Delayed visual maturation.

Fifty-three infants with delayed visual maturation (DVM) are presented. These have been classified according to their ocular and systemic features into three groups: DVM as an isolated anomaly, in association with mental retardation, and ocular abnormalities accompanied by DVM. The clinical features are discussed, particularly regarding the time and speed of visual improvement in the three groups. Infants with DVM who experienced difficulties in the perinatal period have an increased risk of developing permanent neurological sequelae.

Failure of phenobarbitone to prevent febrile convulsions.

One-hundred-sixty-five children without known neurological disorder who presented with their first febrile convulsion between the ages of six months and three years were assigned to daily phenobarbitone treatment or to a control group and followed up at a special clinic for six months. One-hundred-and-sixty-one-one children completed the trial, and of the 88 children assigned to phenobarbitone treatment 10 had further convulsions during this period compared with 14 of the 73 control children. Only 49 of those assigned to phenobarbitone took the drug regularly throughout the trial, and four of these had further febrile convulsions, a proportion not significantly different from that in the controls. All four had mean plasma phenobarbitone concentrations over 69 mumol/l (16 mug/ml) during the trial and in three the plasma concentration was at or over this figure within eight hours over 69 mumol/l (16 mug/ml) during the trial and in three the plasma concentration was at or over this figure within eight hours of the repeat convulsion. Regular phenobarbitone does not seem to prevent febrile convulsions. Attention should instead be directed to organising emergency services to allow early termination of fevrile convulsions, whether first or subsequent, to prevent irreversible brain damage.