If a group of metabolic paediatricians had been asked 10 years ago which disorders they thought would be the most treatable at the start of the new millennium, very few would have mentioned lysosomal storage disorders (LSDs). The early onset, progressive nature, and tendency to involve the CNS have always been regarded as major hurdles to effective treatment. However, the final decade of the 20th century has seen developments in organ transplantation, enzyme replacement therapy (ERT), and gene transfer so that curative treatment for at least some of these disorders is no longer a distant goal.

Twelve children with vertebrobasilar artery stroke are reported (seven males, five females; aged 6 months to 15 years). Patient 1 showed an arcuate foramen in the posterior arch of the atlas, an anatomical variant occurring in 3 to 15% of the population. It was hypothesized that the presence of the arcuate foramen might cause tethering of the vertebral artery and lead to its dissection by repetitive trauma. Lateral plain films of the cervical spine in cases of posterior circulation stroke were taken. Eight of 11 patients showed aberrant arcuate foramina. Of the remaining three patients, one had normal cervical spine X-rays, one had an absent right posterior arch of the atlas following previous surgery for a cervical meningocele, and one patient had incomplete ossification of the vertebrae. Seven of the nine patients with arcuate foramina had vertebral angiograms. In all cases this showed the vertebral artery passing through the arcuate foramen before entering the brain and an appearance consistent with arterial dissection and occlusion at the same site below the foramen. Most documented cases of posterior circulation stroke in children follow trauma, which may be minimal or repetitive, with thrombotic occlusion of the artery at C1–C2 level. The association with an arcuate foramen and its possible causative role in the genesis of posterior circulation stroke in children has not been previously recognized. There may be a causal association between the presence of an arcuate foramen, tethering of the vertebral artery in the foramen, and dissection from repetitive trauma with movement of the neck.

Autism has been described in association with a variety of medical and genetic conditions. We previously reported on a patient whose clinical phenotype was compatible with both fetal valproate syndrome (FVS) and autism. Here we present five additional patients with FVS and autism. In all five of our patients, there was evidence of cognitive deficits, manifestations of autism, and typical phenotypic characteristics of FVS. The association between this known teratogen and autism has both clinical and research implications.

The fifth author's name is SH Roussounis, not SH Rousso as printed in the April issue of DMCN.

Congenital facial weakness involves various clinical manifestations, each of which raises specific problems. The incidence of congenital facial palsies ranges from 1.8 to 7.5‰ of births. Comparison of clinical and neurophysiological data enables aetiologies to be differentiated, pathogenesis to be evaluated, and the prognosis to be assessed.

We report a female infant with status epilepticus amauroticus and intractable focal motor seizures associated with congenital cortical dysplasia. EEG demonstrated persistent epileptiform discharges over the right parieto-temporal regions extending to occipital areas. She required cortical resection of the epileptic zone at age 8 months given failure of very high dose antiepileptic combinations. Histological analysis of a sample of cortex resected from the right central parieto-temporal region, identified by electrocorticography as the focus of epileptic activity, showed cortical dysplasia. The seizures ceased and the infant gained full vision after 48 hours. During an 8-year follow-up period she has had a few short-lived seizures, currently controlled with carbamazepine and vigabatrin. Her cognition and speech are intact. This case demonstrates that: (1) resection of a central temporo-parietal focus, which may have spread to the occipital regions, may result in complete visual recovery and cessation of seizures; and (2) EEG should be considered in every infant with alleged delayed visual maturation, to rule out concealed epileptic activity.

During the past 40 years, research in developmental neurology has provided a number of significant new paradigms on the functional development of the human nervous system. It is important to understand the historical background to the previous paradigms and the reasons why they became outdated and how they have been replaced on empirical grounds.

On 27th to 28th February 2000, a multidisciplinary workshop was convened in the USA to explore the current state of knowledge, best clinical practice, and research needs for the management of equinus gait associated with cerebral palsy (CP). The workshop began with a brief review of CP epidemiology, and an inquiry into the current understanding of the natural history of equinus. Attention then shifted to indications for and goals of intervention; a summary of interventional approaches; the criteria by which successful intervention is evaluated; and, finally, research opportunities. What follows is an overview of the workshop.

The objective of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) evidence reports is to provide the biomedical research and clinical practice communities with the current state of evidence about various interventions for the management of developmental disabilities. AACPDM evidence reports aggregate all that has been published about outcomes of an intervention for a medical condition, gauge the credibility (i.e. strength of the internal validity) of that evidence, and identify gaps in our scientific knowledge. The original version of this report was published in the ‘AACPDM Database of Evidence Reports’ on the internet (www.aacpdm.org) where evidence reports are regularly updated to include new research.

We describe a term infant with an acute spinal cord injury following emergency Caesarean section. Foetal movements were normal on the day that the mother was admitted for postterm induction of labour. Caesarean section was performed because of foetal distress and failure to progress during labour. The initial clinical picture suggested acute birth asphyxia. The presence of a high cervical spine injury became more obvious as the clinical picture evolved over the next 7 days. A discontinuity of the cervical spinal cord at C4–5 was confirmed on MRI. Spontaneous respiration failed to develop and intensive care was withdrawn on day 15. No evidence of trauma, or a vascular, neurological, or congenital anomaly of the cervical spinal cord was found at post mortem. The absence of a similar case following cephalic presentation and Caesarean section made bereavement couselling of the parents especially difficult.

Interest in disorders of the white matter of the CNS started in the 19th century. For many decades, research in that field was dominated by pathology. Examples of the diseases defined on the basis of pathological findings include in chronological order: multiple sclerosis, Pelizaeus–Merzbacher disease, Schilder diffuse sclerosis, globoid cell leukodystrophy, metachromatic leukodystrophy, and Alexander disease. Halfway through the 20th century, after the identification of the biochemical basis of many white-matter disorders, diagnostics based on morphology were replaced by diagnostics governed by biochemistry. The general diagnostic approach became one of broad biochemical screening of body fluids, followed by more specific biochemical tests leading to a specific biochemical diagnosis.

The case is presented of a female infant with a distal deletion of 8p (8p23.1→pter) whose development was monitored over a 5-year period from 12 months of age. Although previous literature has suggested that 8p deletion is associated with mild to moderate intellectual disability, the child reported here has normal intelligence. Despite initial delays in gross motor and language skills, cognitive development (assessed with the Bayley Scales of Infant Development) and intellectual ability (measured on the Stanford-Binet Intelligence Scale) were within average range. It is argued that the small number of previous case reports may have created a misleading impression of intellectual development in individuals with distal deletions of 8p.

Duchenne muscular dystrophy (DMD) is a disease which has as its hallmarks progressive muscle weakness and degeneration of skeletal muscle. Also observed among those with DMD is a higher rate of mental retardation than in the normally developing population.

During the past decade, the promotion of physical fitness as a major benefit to health promotion and health maintenance has gained increasing momentum. Level of physical fitness has been shown to be inversely associated with heart disease, stroke, type 2 diabetes, high blood pressure, and colon cancer. Several studies also have noted that good-to-high levels of physical fitness (muscular strength and endurance and cardiorespiratory fitness) can offset the decline in function that occurs during the natural ageing process, and can assist people in maintaining their physical independence in later adulthood.

A male child with multiple congenital anomalies and developmental delay is described. Cytogenetic evaluation showed that the patient was partially monosomic for the short arm of chromosome 18 and partially trisomic for the short arm of chromosome 16: a combination of chromosomal syndromes not previously described.

The heightened risk of epilepsy in cerebral palsy (CP) was recognized by Freud more than 100 years ago. His descriptions of the characteristics of the seizures indicate his appreciation of their essentially symptomatic nature. Much more recently, the importance of epilepsy as an adverse factor for cognitive function in children with hemiplegic CP has been highlighted. The possibility that subclinical seizure discharges may add to cognitive problems requires particular attention in any child whose abilities may be already impaired secondary to structural brain abnormalities. Nevertheless, it is important to recognize that the motor difficulties, and any intellectual disabilities, as well as complicating seizures, are likely to stem from the same underlying pathology.

Direct measurement of energy expended by spasticity in children with severe spastic quadriparesis is difficult. Insertion of an intrathecal baclofen pump in a 13-year-old boy with severe spasticity and profound mental retardation resulted in an estimated 30 to 40% decrease in his spasticity. As he had been on a carefully calculated ketogenic diet and fed by gastrostomy, his precise caloric intake was known. Decrease in spasticity, on the same caloric intake, led to marked weight gain. Reduction of 100 calories intake resulted in new weight stability. It was possible therefore, to estimate indirectly energy used by his spasticity. This 100 calories, representing 34% of calories above his resting energy requirement, corresponded to an independently estimated 30 to 40% of caloric expenditure of his spasticity. It was concluded that when calculation of calories is critical, energy utilization by spasticity must be taken into consideration.

Sudden unexpected death in epilepsy (SUDEP) has been defined as occurring in an individual suffering from epilepsy (characterized by recurrent seizures), who dies unexpectedly while in a reasonable state of health, and with death happening suddenly (in minutes), and during normal activities and benign circumstances. Also there should be no obvious medical cause, and death should not be the result of a seizure or status epilepticus, such as inhalation of vomit.