This study of the outcome and prognostic factors in prenatally diagnosed agenesis of the corpus callosum (ACC) was undertaken to see if there are any differences between subgroups, what relationship they have to neurodevelopmental outcome and whether this information aids the counselling of parents of fetuses with the condition. The outcome of 14 prenatally diagnosed fetuses with ACC and 61 postnatally diagnosed patients was assessed in terms of clinical problems, developmental milestones and neurological signs; each patient was then given a score out of 10, 0 being a normal outcome and 10 being the worst outcome, i.e. death or termination of pregnancy. Comparing patients diagnosed pre- and postnatally, several similarities were found indicating that the postnatal group can provide useful information about the prenatal group. There was a higher incidence of ACC in males than females. In the prenatally diagnosed patients complete ACC was more common than partial ACC, although this might be because partial ACC was easily missed. Complete ACC has a worse prognosis than partial ACC (p = 0.001), and when associated with other anomalies, especially of the central nervous system, the outcome is very bad (p < 0.01). The only neurodevelopmentally normal patients were in the isolated partial ACC group. This study highlights the need to perform a detailed review of fetal anatomy and the desirability of determining the karyotype of the fetus in all newly diagnosed cases of ACC so that as much information as possible is available before parents are counselled about the likely outcome.
The aim of our study was to assess the influence of the Arnold-Chiari malformation, cervical cord dysraphism and hydrocephalus on hand function in subjects with meningomyelocele, but without many of the other confounding factors commonly found in this group e.g low IQ and cerebral palsy, which in themselves cause poor hand function. Three groups of subjects who attended main stream schools underwent a basic neurological examination of the upper limbs and a battery of hand function tests. Group 1 consisted of subjects with meningomyelocele and shunted hydrocephalus (n = 21), Group 2 subjects had isolated shunted hydrocephalus (n = 13) and Group 3 were normal controls (n = 18). The results show that subjects with meningomyelocele had weaker power in the small muscles of the hand as compared to the controls and those with isolated hydrocephalus (p = 0.01) and poorer fine motor control and co-ordination. The meningomyelocele group scored significantly poorer in all of the tests as compared to the control group using the dominant hand (overall, p = 0.0003), and all of the tests but one using the non-dominant hand (overall, p = 0.0005). Our study has demonstrated that children with meningomyelocele have poorer hand function than healthy controls, which is due to causes other than hydrocephalus, poor IQ or cerebral hemisphere pathology. Instead, cerebellar and cervical cord abnormalities appear to be exerting a significant deleterious influence on the function of the upper limbs.
202 cases of children with shunted hydrocephalus of congenital or acquired origin were studied and the incidence of seizure disorder was found to be 39%. However in only 17% of cases was the seizure disorder found to be persistent. Focal seizures were rarer than expected. If focal seizures were present they did not appear to be related to shunt site. 9.4% of children suffered an episode of status epilepticus. A large number of incidents of seizures could be shown to have a specific precipitant, usually CSF infection or shunt related problems. No aspect of birth history or development or treatment of the hydrocephalus was related to the occurrence or seizure disorder or type of fit experienced. Children with persistent seizure disorder were found to be more likely to be of low IQ, physically handicapped and at Special School.
Eight children born with occult spinal dysraphism were diagnosed in utero by ultrasonography. Post-natally, they were evaluated by MR scans. The ultrasound scans in all 8 fetuses revealed a spina bifida: the spinal cord was long in 5 and in 3 a meningocele was thought to be present, however, in 1, a post-natal MR scan revealed a lipomeningocele instead of a simple meningocele. In 3 fetuses an echogenic area was seen on the ultrasound scan which raised the possibility that an intradural lipoma was present, and was confirmed by post-natal MR scans. In 3 fetuses vertebral body anomalies and an additional ossification centre in a midline bony spur together with widening of the spinal canal were seen in the lower lumbar region. The lesions in all 8 fetuses were skin-covered. None had ventriculomegaly or an Arnold-Chiari malformation. The prognosis for fetuses with spina bifida aperta is well documented in contrast to that for those with spina bifida occulta. The ability to identify a spinal dysraphic lesion pre-natally allows a more accurate assessment to be made of the likely outcome for an individual fetus.
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