We report the rare presentation of Menkes disease with a congenital skull fracture, intracerebral bleeding, and seizures. The diagnosis was made at 3 months of age based on the characteristic features of the syndrome, by which time the child experienced uncontrollable seizures. Following progressive neurodegeneration, death occurred at 3 years of age. The prognosis in Menkes disease is dependent on early copper-histidine therapy. Effective treatment has led to children surviving into adulthood. Diagnosing the syndrome during the neonatal period is difficult. There are no published reports of congenital skull fracture as a presenting sign of Menkes disease. It is concluded that Menkes disease should be considered in any child who presents with congenital skull fracture as early diagnosis and treatment significantly improve the outcome.

During the last century, knowledge of the mechanisms governing the functions of the central nervous system increased rapidly as sophisticated physiological, neurochemical, and imaging techniques developed. In the field of motor control, better understanding of neurophysiology caused a gradual shift from the concept that motor behaviour is largely controlled by reflex mechanisms towards the notion that motility is the net result of complex spinal or brainstem activity, which is subtly modulated by segmental afferent information and ingeniously controlled by supraspinal networks. Nowadays it is assumed that motor control of rhythmical movements like locomotion, respiration, sucking, and mastication is based on so-called central pattern generators (CPGs): neuronal networks which can generate complex basic activation patterns of the muscles without any sensory signals. Nevertheless, sensory information of the movement is important in adapting the movement to the environment. The activity of the networks, which are usually located in the spinal cord or brainstem, is controlled from supraspinal areas via descending motor pathways. The supraspinal activity itself is organized in large-scale networks in which cortical areas are functionally connected through direct recursive interaction or through intermediary cortical or subcortical (striatal, cerebellar) structures.

A non-contact communication system was developed for a ventilator-assisted patient with Werdnig–Hoffmann disease who had lost all voluntary movements except for those of the eye. The system detects the extraocular movements and converts them to either a ‘yes’ signal (produced by one lateral eyeball movement) or a ‘no’ signal (produced by two successive lateral eyeball movements) using a video camera placed outside the patient's visual field. The patient is thus able to concentrate on performing a task without any intrusion from the detection system. Once the setting conditions of the device have been selected, there is no need for any resetting, as the patient is unable to move his body. In addition to playing television games, the child can use the device to select television channels, compose music, and learn written Japanese and Chinese characters. This seems to broaden the patient's daily world and promote mental development.

Urinary and faecal incontinence present a considerable problem in people with learning disabilities, despite the general effectiveness of behavioural techniques in continence training. Children with learning disabilities and obsessional behaviour may be particularly resistant to toilet training, even where relatively cognitively able, and often despite a substantial degree of control over their eliminatory functions. Their resistance may be more appropriately regarded as a challenging behaviour and their incontinence better explained by factors other than a simple failure to learn. A ‘stimulus-control’ hypothesis proposes that the child's nappy (diaper)/potty/underwear has developed strong stimulus control over the elimination response. This report describes three case studies in which treatment-resistant children, aged between 8 and 12 years, with mild or moderate learning disabilities, were successfully treated for nappy-dependent nocturnal encopresis or diurnal urinary incontinence. The children were routine case referrals for whom previous attempts to train bowel or bladder control had failed. Behavioural techniques, such as ‘shaping’ (gradually increasing the proximity to the toilet), ‘fading’ (reducing the presence of the nappy), and rewards for eliminating, effected successful transfer of stimulus control over elimination from nappy to toilet. Treatment times varied, depending on the degree of the child's obsession and resistance to change.

The following case reports describe a new condition of cerebellar ataxia, anterior horn cell disease, dystonia, and learning difficulties. Four cases are described. The condition appears to be of autosomal recessive inheritance as the group is made up of two pairs of sisters. All cases were evident by 3 years of age. Anterior horn cell disease was of a type not previously described at this age in association with cerebellar ataxia. Further genetic studies suggest the condition is not allelic with spinal muscular atrophy having no evidence of deletion of the survival motor neurone gene.

Hypoxic–ischaemic encephalopathy (HIE) was diagnosed in an infant with acidosis. At 7 weeks of age further investigations revealed abnormal neuroimaging (CT and MRI scans) and a raised plasma and CSF lactate. A skeletal–muscle biopsy at 2 months of age confirmed the diagnosis of cytochrome oxidase deficiency. The course of the patient's disorder has taken that of a static encephalopathy (cerebral palsy). Inborn disorders of the respiratory chain should be considered in the differential diagnosis of HIE.

A rare case of visual loss as the presenting feature of a central arteriovenous malformation involving the vein of Galen is reported. A 5-year-old girl with a history of deteriorating vision for the past 6 months was examined. Ocular examination showed a left hemianopia, left optic atrophy, and dilated vessels of the right optic disc. MRI revealed a massive deep-seated central arteriovenous malformation involving the vein of Galen. The mechanism of visual loss is likely to be a combination of ischaemic optic atrophy associated with a steal phenomenon and direct compression of the right optic radiation.

Intermittent electrical stimulation of the cervical vagus nerve (VNS) with an implanted pulse generator is a new adjunctive treatment for severe seizure disorders. In two large, prospective, double-blind randomized controlled trials involving more than 300 patients, VNS reduced seizure rates by 25% within 3 months. A 3-year follow-up study of these and 125 additional patients indicated that efficacy was maintained; seizure rates were reduced by 45%. General reviews on VNS in adults, and mechanisms of action are given by McLachlan and Schachter and Saper.

Colpocephaly is an abnormal congenital enlargement of the occipital horns of the lateral ventricles, which has typically been associated with learning disability, seizures, and motor and visual abnormalities. This study describes familial colpocephaly in two siblings with different fathers in a Dominican family. There were no other neurological problems in their relatives. Child 1 is a 7-year-old girl, who has had partial epileptic seizures since 4 years of age. She attends a mainstream school. She has coloboma and chorioretinic atrophy in her right eye and a right microphthalmia. MRI revealed colpocephaly and hypogenesis of the corpus callosum. Her brother, aged 2 years 8 months showed a mild delay in speech acquisition. He has had three febrile convulsions and two non-febrile tonic–clonic seizures since 6 months of age. Neurological and ophthalmological examinations were normal. MRI documented colpocephaly with right occipital horn prevalence. There are only two literature reports of genetically transmitted colpocephaly hypothesised in two identical twins and in two brothers. In the children in this study, a genetic basis for colpocephaly is confirmed. We hypothesised a maternal transmission with X-linked or autosomal dominance with an incomplete penetrance model of inheritance.

There are two major forms of developmental motor disorders: cerebral palsy (CP) and clumsiness. CP is an umbrella term covering a group of non-progressive, but often changing, motor impairment syndromes secondary to lesions or anomalies of the brain arising in the early stages of development. It affects about 1 in 500 live-born children. Clumsy children nowadays are classified according to DSM-IV as having developmental coordination disorder (DCD), a term denoting children who have such poor motor coordination that it affects daily activities at home and at school, but with normal intelligence and without obvious neurological pathology. The prevalence of DCD is about 10% (6 to 13%). The understanding of the motor problems in both groups of children is hampered by the large heterogeneity within each group. In both groups children differ in the expression of their motor dysfunction, in comorbidity such as the presence of cognitive and behavioural disorders, and in aetiology. In addition, the relation between the various motor disorders and the structural abnormalities of the brain is far from simple. CP is, by definition, attributed to lesions or anomalies of the young brain, but the abnormalities of the brain cannot always be visualized with imaging techniques. Despite there being some relation between lesions of the periventricular white matter and spastic diplegia, and between unilateral lesions and spastic hemiplegia, the site of the lesion does not correlate exactly with the type of motor dysfunction. In children with DCD the connection between structural abnormalities of the brain and motor dysfunction is still more ambiguous. Recently Hadders-Algra and Touwen argued that indications for pre- and perinatal brain damage can be found only in one third of children with minor motor dysfunction. This could imply that most clumsy children do not have macroscopic anomalies of the brain, but dysfunctions at the microscopic level of the nervous system, with abnormalities in the neurotransmitter or receptor systems, for example.

A 14-month-old girl presented after 3 days of fever, floppiness, and diffuse urticarial exanthem. She developed encephalitis and carditis and 1 week later, intractable seizures. Initial CT and MRI showed no changes in the brain parenchyma. On days 14 and 34 after the onset of symptoms, a human herpesvirus-6 (HHV-6) genome in cerebrospinal fluid was identified by polymerase chain reaction (PCR). Convulsions became more frequent and 11 weeks from the onset, they changed to typical infantile spasms with hypsarrhythmic electroencephalogram. She gradually lost her social contact and ability to walk and sit. Eleven months after the primary infection, a repeated MRI of the brain revealed a cystic tumour of 2cm in diameter near the vermis. The tumour was surgically removed, and shown to be a pilocytic astrocytoma on histopathological examination. HHV-6 DNA was detected by PCR in new tumour tissue. This is the first reported case of HHV-6 encephalitis associated with carditis, infantile spasms, and a subsequent brain tumour containing the HHV-6 genome.

This reply concerns the paper which may be found at http://www.journals.cambridge.org/abstract_S0012162200000670

As a result of intensive treatment techniques and care, the outcome for infants born prematurely has greatly improved over recent years, resulting in an increased survival rate among preterm infants, particularly at younger gestational ages. Such infants have a greater risk of neuropathology. This may explain why the incidence of major disabilities such as cerebral palsy (CP) has remained virtually unchanged over the past two decades and why, apart from major disabilities, the number of preterm infants who experience developmental problems later in life has increased. It is still unclear how the infant's prematurity contributes to such adverse conditions.