We report on a 31-year-old female with vitamin B6-dependent seizures whose seizure onset was in the neonatal period. Her elder brother had the same disorder and died in infancy. Administration of vitamin B6 was initiated in the postnatal period. At the age of 12 years 1 month, 2 months after withdrawal of vitamin B6, visual seizures began to occur frequently. Myoclonic seizures and occasional generalized convulsive seizures were also observed. At the same time, photoparoxysmal response and spontaneous diffuse spike–wave bursts were seen on her EEG. Myoclonic seizures were provoked by intermittent photic stimulation during the EEG. It is distinctive that visual seizures were one of the main seizure types in this patient, that her clinical course was relatively benign, and that she has normal intellectual outcome.

An 8-month-old boy with global developmental delay, including visual and hearing inattention, was examined in the ophthalmic clinic. Monocular flash visual evoked potentials demonstrated a crossed asymmetry in scalp distribution, a feature considered to be pathognomic of albinism. Remarkably a foveal reflex was noted in each eye and this patient did not have nystagmus, iris transillumination, nor conspicuously pale fundi. The optic discs appeared normal. He was noted to have very fair skin and hair, with a small head and flat occiput. Cytogenetic studies demonstrated a microdeletion of the maternal chromosome 15q11–q13, and he was diagnosed with Angelman syndrome.

This study is the first attempt to assess systematically the cognitive functioning in children diagnosed with typical cri du chat syndrome (CDCS) using neuropsychological test measures. Twenty-six children aged between 6 years 4 months and 15 years 5 months (mean 8 years 3 months) completed a battery of tasks measuring IQ level, receptive and expressive language skills, and articulation. Twenty-four children were in the severe learning-disability range with no specific verbal or performance profile. Using more finely tuned measures of cognition, however, a clear discrepancy in the pattern of language functioning was found with better receptive than expressive language skills. One implication of these findings is that parents and professionals should be more optimistic about the capacities of children with CDCS to understand more complex verbal commands than their expressive language skills would suggest.

Children with mild developmental delay without dysmorphic features do not often have identifiable underlying aetiological factors. We report on a 5-year-old girl with mild developmental delay and dysmorphic features which were previously unrecognized. She was found to have supernumerary ring chromosome 19 mosaicism which was the likely cause of her clinical problems. Her parents' chromosomes were normal. A careful examination for dysmorphic features should be done in all children with developmental delay. However, these may not be readily apparent in babies and very young children. Chromosomal analysis to identify a genetic cause and to offer genetic counselling should be considered in all such children unless the clinician is absolutely certain that there are no dysmorphic features.

A girl with partial lipodystrophy is described presenting with muscle weakness and developmental delay several years before lipoatrophy became apparent. The patient subsequently developed epilepsy, fatty liver, secondary amenorrhoea, hirsutism, insulin-resistant diabetes mellitus, hyperlipidaemia, and hypothyroidism. She remains weak with poor exercise tolerance. This case illustrates an atypical presentation of the Barraquer–Simon syndrome.

This study reports on a girl with a permanent cerebral lesion and opercular syndrome after status epilepticus (SE). She had previously been healthy and had her first focal motor seizure at 5 years of age, which was controlled with intravenous phenytoin and rectal diazepam. Twenty-four hours later, she developed partial SE consisting of right facial twitching and right-hand clonic movements. These uncontrollable seizures lasted for 5 days, after which the partial SE changed to generalized SE, and the seizures continued for another 5 days. CT performed the day before onset of SE revealed no brain abnormality. Another CT performed a year later disclosed bilateral brain lesions, more severe in the left hemisphere. Follow up at 16 years of age revealed moderate motor sequelae of the right-hand side of the body, anarthria, difficulty chewing, dysphagia, bilateral facial weakness, and drooling, all of which clinically characterize opercular syndrome. An MRI study performed at 14 years of age showed a cerebral parenchymatous lesion which extended between the parietal cortices of both hemispheres, more severe on the left side, and which crossed the corpus callosum, destroying the posterior-middle zone. Evidence from the CT indicates that the lesion was not present before onset of SE. It seems likely that the focal SE caused the focal brain damage, but the possibility that the subsequent generalized SE played a role cannot be excluded.

There are a number of compelling reasons why sleep disorders should feature prominently in the training of paediatricians, child psychiatrists, and others involved in the care of children: (1) conservatively, 20 to 30% of children from infancy to adolescence have sleep problems which are considered significant by them or their parents; without effective treatment, these problems may persist for long periods; (2) sleep disturbance can harm a child's learning and behaviour, and, sometimes, physical development; (3) parenting and other aspects of family function can be seriously affected. In addition, the nature of the sleep disturbance, including its physiological aspects, might provide an insight into the mechanisms by which psychological disturbance is caused as a result of sleep loss or disruption.

The cutaneous flexion reflex has been used to study spinal sensory processing in 68 infants (37 female, 31 male) aged between 28 and 42 weeks postconceptional age (PCA). Mechanical and electrical stimuli were singularly and repeatedly applied to the foot, and single-surface EMG responses were recorded from the biceps femoris muscle. A clear correlation was demonstrated between the mechanical stimulus intensity and latency and the amplitude of the reflex. Mechanical threshold normally increased with age, but the flexion-reflex threshold was lowered by local limb-tissue damage in the contralateral limb. The incidence of response to repeated mechanical stimulation at 2.8 × threshold decreased significantly with increasing age. Repeated mechanical stimulation at 2.8 × threshold caused a build-up in the size of the response followed by a diminution. The flexion reflex can, therefore, be used to investigate sensory processing in the neonate, and the effects of tissue damage. The importance of using natural rather than electrical stimulation is highlighted.

Episodic dyscontrol syndrome may affect both children and adults. Those who treat children with neurological disorders are likely to see patients referred for investigation of outbursts of aggressive behaviour, especially if episodes are possibly of an epileptic nature. This may occasionally be the case, but in some children it seems that their threshold to such behaviour is abnormally low, and this may also result from defects in the biochemistry or structure of the brain. There is nothing calculated about this behaviour, and it cannot be explained by justifiable anger, such as the result of frustration. Boys are affected more frequently than girls, and the syndrome is more often seen among urban than rural populations. Such outbursts can occur in isolation, but also after a series of minor episodes such as the crying of a younger sibling for nights on end. The outbursts may be very brief or last several hours.

This report describes a case of multisystem failure in a 5-year-old boy who was being treated with carbamazepine for a seizure disorder. Carbamazepine hypersensitivity was diagnosed from the combination of the clinical constellation and the results of the patient's peripheral blood monocyte proliferation responses to both carbamazepine and a panel of other medications.

The aim of this study was to determine the incidence of respiratory depression following the use of diazepam in children presenting with seizures. All children presenting with seizures to a children's A & E department over a period of 9 months were studied prospectively. Respiratory depression was defined as a fall in respiratory rate or oxygen saturation, or apnoea resulting in ventilation or resuscitation with bag-and-mask oxygen. There were 130 patient episodes involving 97 children who received treatment for their seizures before admission and/or in the A & E department. Administration of diazepam resulted in 122 patient episodes. The route of administration was rectal in 91 episodes, intravenous in 12 episodes, and both rectal and intravenous in 19 episodes. Eleven children had respiratory depression in relation to diazepam administration. Eight of these children required ventilation. The overall incidence of respiratory depression following the use of diazepam was 9%. The incidence of respiratory depression following diazepam given intravenously or rectally is high. The use of diazepam as first-line therapy for children with acute seizures needs to be reviewed.

We describe an 18-month-old boy with insulin-dependent diabetes mellitus who developed idiopathic myoclonic encephalopathy (dancing eye syndrome) at 26 months of age. The neurological symptomatology (multifocal myoclonus, opsoclonus, ataxia, behavioural disturbance) developed within 10 to 14 days after presentation. Biological, neuroradiological, and scintigraphic examination excluded CNS infectious diseases, intoxication, or tumours. At onset of diabetes mellitus, anti-glutamic-acid decarboxylase (GAD) antibodies were observed, and markedly increased in titre when myoclonic encephalopathy occurred. Corticosteroid treatment resulted in a decrease in anti-GAD autoantibody titres and the disappearance of neurological disturbances. As GAD is expressed both in pancreatic β-cells and cerebellar Purkinje cells, it is possible that a common autoimmune disorder in this patient may account for both the diabetes and myoclonic encephalopathy.

In the past few years there have been a number of new surgical interventions in the treatment of cerebral palsy (CP) and these were reviewed in a meeting at the London Royal Society of Medicine, arranged by the Mac Keith Meetings committee, in October 1997. One such intervention, selective dorsal rhizotomy (SDR), is a modification of a technique first used at the turn of this century. In the mid-1980s, SDR was reintroduced by Peacock and Arens for children with CP. It was established in South Africa and the United States, then spread to Canada and parts of Europe. The continuous infusion of intrathecal baclofen (CIBI) to relieve spasticity in CP has only been used this decade. It was pioneered mainly in North America, and followed experience with its use in spinal spasticity, for which it is particularly effective. Lastly, we considered the practice of multilevel orthopaedic surgery which started over 20 years ago, but has recently become popular throughout North America and Europe. Guided by clinical examination and information from laboratory gait analysis, this approach addresses all of the mechanical problems in the lower limb at one stage and attempts to avoid the need for separate procedures throughout childhood – the ‘birthday’ syndrome. All of these new techniques are costly in effort and time for the child and all involved, and thus need careful evaluation. This was provided at the meeting by speakers from a variety of backgrounds and countries.

An 11-year-old boy's epileptic seizures started with a feeling of impending crisis, dizziness, headache, and a bad taste in the mouth. This was followed by swallowing and a burning sensation in the left hand. At the same time, other parts of the body experienced allodynia. MRI and CT scans showed a right anteromesial temporal lesion which proved at neuropathology to be a ganglioglioma. Lesionectomy resulted in complete cessation of seizures. Seizures were absent at an 18-month follow-up. Allodynia is discussed in relation to the locality of the lesion.

A white Italian boy, aged 5 years and 8 months, is reported with failure to thrive, hypotonia, truncal ataxia, psychomotor retardation, and congenital horizontal pendular nystagmus with only waves I and II on auditory brainstem responses. Our patient's clinical picture resembles that previously reported in 10 male Oriental patients. He did not manifest spastic diplegia by the age of 2 years, as did the subjects reported in the literature, but knee-jerk hyperreflexia was evident at the most recent clinical reevaluation. Serial brain MRI studies revealed a cystic brain lesion and peritrigonal hyperintensities with no brainstem abnormalities. To date, no other child with a similar syndrome has been described either in Europe or in America. The clinical features of this condition are consistent and characteristic. A definitive diagnosis is achieved by demonstrating the absence of all waves following wave I or wave II on auditory brainstem responses as early as 3 months of age. Due to the predominance of males, the occurrence in siblings, the early age at onset, the non-progressive course, and the characteristic auditory brainstem response findings, the syndrome may have a genetic origin and be attributable to a dysgenetic brainstem lesion.

Idiopathic toe-walking (ITW) is a term used to describe the condition in which children walk with a toe–toe gait pattern in the absence of any known cause. It has also been referred to as habitual toe-walking and congenital short tendo calcaneus (tendo Achilles).

Thrombotic and thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, it is unusual for thrombosis and infarction to be the presenting feature leading to investigation for homocystinuria and cerebrovascular lesions in the first year of life. We describe a previously healthy 6-month-old infant who presented with a large middle-cerebral-artery territory infarction and died of massive brain swelling. Homocystinuria due to cystathionine β-synthase (CBS) deficiency was diagnosed by metabolite analysis and confirmed by enzymatic activity measurement in a postmortem liver biopsy. Homocystinuria should be considered in the differential diagnosis of venous or arterial thrombosis, regardless of age, even in the absence of other common features of the disease. We recommend systematic metabolic screening for hyperhomocysteinemia in any child presenting with vascular lesions or premature thromboembolism.

Significant educational delays, even in the absence of cognitive-processing deficits, can be attributed to the inability to sustain attention. The relation between dyslexia and attention deficits is well established. Although research on the relation between dyscalculia and attention deficits is limited, evidence is mounting for a pivotal relation between these two disorders. Indeed, attention deficits may be more strongly associated with dyscalculia than with dyslexia.

Convulsive status epilepticus (CSE) is the most common medical neurological emergency and continues to be associated with significant morbidity and mortality. The two primary determinants of outcome from CSE are underlying aetiology and seizure length. It is unclear whether a prolonged seizure worsens the prognosis of an underlying aetiology or whether a more severe underlying disorder is more likely to result in CSE. Acceptance of the former hypothesis means that seizures need rapid treatment as their early termination could potentially reduce brain damage and morbidity. Pathophysiology, epidemiology, and outcomes from CSE have recently been reviewed elsewhere.