Identification of the biochemical deficiency that causes Duchenne muscular dystrophy (DMD) has often been hailed as the beginning of the era of ‘genetic medicine’. Identification of this first ‘positionally cloned’ gene led to subsequent identification of dystrophin deficiency in muscles, the definition of a plethora of related muscular dystrophies and multiple species of genetically and biochemically identical animal models, and the publication of thousands of papers on dystrophin, the membrane cytoskeleton of myofibers, and molecular diagnostics. The recent advent of genome-wide approaches (single nucleotide polymorphisms, and microarrays) are quickly adding new insights into the molecular pathophysiology and underlying clinical progression of the dystrophies.

A 6-year-old female presented with right hemichorea, initially thought to be post-streptococcal, which subsequently progressed to a right dystonic hemiplegia. At 7½ years she developed right focal and secondary generalized tonic–clonic seizures. These became intractable. A brain biopsy was consistent with Rasmussen's encephalitis (RE). At 9½ years the child underwent a left hemispherectomy making a good recovery with resolution of seizures. At 12 years she presented with recurrent episodes of abdominal pain, fever, and malar rash with serological evidence of systemic lupus erythematosus (SLE). A possible link between RE and SLE is discussed.

Foetal alcohol syndrome (FAS) was first described in 1973 by Jones and colleagues. Since then, results of epidemiological studies and clinical experience have shown that exposure of the foetus to high maternal alcohol consumption has a range of consequences. It can result in both major and minor malformations, permanent impairment of growth with a disproportionately low weight-to-height ratio and reduced head growth, and CNS dysfunction ranging from learning disability to specific learning disorders – all characteristics that can, however, have other causes. Effects within all domains can range from mild to severe. Effects seen in a child and the diagnosis reached depend on the duration of exposure to substantial maternal alcohol consumption during pregnancy, the range and timing of peak blood-alcohol levels, the nutritional state of the mother, and individual susceptibility.