Fibromuscular dysplasia (FMD) is a systemic arteriopathy which tends to affect renal arteries followed by cervicocranial vessels. It can lead to cerebral infarction if cephalic arteries are involved. FMD is an unusual cause of stroke in childhood that generally affects the carotid area. Only four cases of vertebral FMD and subsequent stroke have been reported previously and we present the youngest patient of all. A healthy 3-year-old female was admitted to Hospital Doce de Octubre in Madrid, Spain with cerebellar infarction. Angiography disclosed basilar artery thrombosis and typical signs of FMD in both vertebral arteries. No other angiographic alteration was noted in the other vessels studied. Her phenotype and other investigations were unremarkable. The patient was treated with anti-aggregation therapy (aspirin) and the outcome was excellent. Investigation of the occurrence in childhood of this kind of arteriopathy may lead to clarification of its natural history and speculation about its unclear pathogenesis.

Inflicted traumatic brain injury (ITBI) or shaken baby syndrome is recognized as a major cause of disability and death in the pediatric population. Although advances have been made in the recognition of the clinical, radiographic, and pathological findings of ITBI, less is known about the long-term outcomes of survivors. Health care providers recognize that these infants and children frequently have poor outcomes. Although an infant or child who sustains an ITBI may look well immediately after the trauma, that child may be left with serious and permanent disabilities.

In paediatric outpatient departments it is not uncommon for a child to complain of muscle pain and stiffness. These may be labelled as ‘growing pains’, a diagnosis of exclusion when no obvious cause is found. Pain and stiffness occur most frequently at night and are located usually in the leg muscles, and not in the joints. They are intermittent, and tend to occur after the child has had an especially active day, so that a detailed history which notes pain after almost any amount of exercise (as opposed to stress at the site of the pain) will reveal the differences from McArdle's disease. If examination results are entirely normal investigations are to be avoided unless the symptoms persist. If they do, a number of causes may be found, from orthopaedic abnormalities to metabolic disorders. This paper is concerned with one of the latter: glycogenosis type V or McArdle's disease, a rare autosomal recessive condition resulting from muscle phosphorylase deficiency, an enzyme which initiates the breakdown of glycogen in skeletal muscle. Cardiac muscle is not significantly affected. The condition usually presents in the first two decades of life, but can occur in infancy and adulthood.

Acute birth asphyxia can be defined as an interference with respiration resulting in hypoxia and tissue acidosis occurring around the time of birth. Because tissue acidosis is commonly associated with circulating acidemia, many clinicians assume that infants born with acute birth asphyxia invariably demonstrate acidemia in umbilical artery blood at birth. Furthermore, they assume that asphyxiated infants will not suffer brain injury unless they demonstrate severe acidemia.

The conditions subsumed under the term ‘autistic spectrum disorder’ (ASD) vary in severity at the time of initial presentation; they also vary in expression over time. Unfortunately, the most widely adopted reference standard for the diagnosis of ASD, the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV), does not quantify severity of expression of ASD at the time of initial diagnosis, nor can it be used to document longitudinal changes in symptom expression, other than to state in a ‘yes/no’ fashion that an individual might no longer meet criteria for diagnosis. In clinical practice, measures intended to quantify the severity of ASD, such as the Childhood Autism Rating Scale, the Gilliam Autism Rating Scale, or the Autism Diagnostic Observation Schedule (ADOS), are typically given once, rather than serially (unlike IQ or academic achievement testing, which are commonly given every 2 or 3 years, if not annually). Finally, the diagnosis of ASD is generally made without reference to the affected individual's level of general intelligence. Most scales for assessing ASD do not take the participants' chronological age or level of general development into account, although there are exceptions. These clinical practices constrain our thinking about ASD. Here I present a schema for thinking about ASD along three dimensions: (1) severity of atypical symptoms, (2) level of general cognitive ability or comorbid mental retardation, and (3) age. This schema is not meant as a diagnostic instrument in and of itself. Rather, it is intended as a frame of reference within which to locate the scores of existing instruments, and as a way of conceptualizing ASD. I suggest that this frame of reference will lead to improved clinical care for individuals of all ages with ASD, and might point the way toward further researchable questions in areas pertaining to the etiology, educational management, and epidemiology of autism and related disorders.

We describe the coexistence of Asperger and Tourette syndromes (AS and TS) caused by discrete hypoxic–ischaemic necrosis of the midbrain, infrathalamic and thalamic nuclei, and striatum in an adolescent male with positive family history for tics and obsessive–compulsive disorder. Behavioural ratings, cognitive tests, and volumetric measurements of the basal ganglia were performed in the patient and five other individuals with AS–TS unassociated with MRI lesions. Cognitive deficits in attentional, executive, and visual–spatial domains were found both in the patient and control AS–TS group, though deficits were more severe in the former. MRI showed reduction of the left basal ganglia volume compared with the right in the patient, whereas the control group showed reduction of right basal ganglia volume compared with the left. It is suggested that individuals with a genetic predisposition to TS may develop AS and TS after involvement of midbrain and related components of basal ganglia-thalamocortical circuits normally implicated in the integration of emotional, cognitive, and motor functions.

Any good paediatrician will point out to the parents of a child with cerebral palsy (CP) that their child's brain damage is fixed and cannot be altered. This is not being over pessimistic but simply honest. The paediatrician then suggests a variety of treatments/therapies aimed at maximizing the child's potential. However, it is understandable if parents still go on to seek treatments which they hope can alter their child's condition. Such treatments include conductive education, cranial osteopathy, and hyperbaric oxygen (HBO) – to name a few. This article seeks to review available information on the use of HBO in the treatment of children with CP.