Cockayne's syndrome is a rare, autosomal recessive condition which usually presents in early childhood, and is characterised by dwarfism, premature ageing, mental retardation and a typical facial appearance and body habitus. Retinal dystrophy, enophthalmos, strab ismus, cataract, nystagmus and corneal opacities are associated ocular features. At a genetic level, a defect occurs in the pathway for the repair of transcriptionally active DNA, and the most common form of Cockayne's is associated with mutations in the human repair gene ERCC6. These patients pose a difficult management problem. A significant proportion will require cataract extraction at an early age, which may present technical difficulties due to enophthalmos, which is a constant finding, poor pupillary dilation and growth retardation. Also, the fitting and assessment of aphakic contact lenses during the post-operative period requires great skill. General anaesthesia in these patients may be hazardous. In particular, difficulty with endotracheal intubation should be anticipated. Two patients with Cockayne's syndrome requiring bilateral cataract extraction in early infancy are presented. The problems associated with surgery, anaesthesia and subsequent follow-up in these mentally retarded infants are discussed. Cockayne's syndrome (CS) l is a rare autosomal recessive condition which presents in early childhood with growth failure, developmental delay and mental retardation? Patients have a characteristic facial appearance often associated with microcephaly. Erythematous rashes due to photosensitivity are common and the skin may appear prematurely aged, being dry and scaly. The limbs are dispropor tionately long with flexion contractures, and kypho scoliosis may develop. Neurological associations

Thyroplasty is an operation on the upper airway to improve voice quality in patients with unilateral vocal cord paralysis. It requires access to an uninstrumented larynx and a functional assessment of vocal cord medialization. It is a difficult anaesthetic procedure that requires sharing the airway with the surgeon. We describe an anaesthetic technique to give good operating conditions and a safe airway, using total intravenous anaesthesia, a laryngeal mask airway and intraoperative fibreoptic endoscopic assessment of the larynx, and present a series of 13 patients. Other anaesthetic techniques for thyroplasty are described and discussed.

SummaryCockuyne syndrome is a rare uutosomal recessiiv condition producing a dwarjed, mentally seturrled infant or child. Prohlerm with uirii*uy niunugement and an increased risk of gastric aspiration are the muin anaesthetic concerns. Anaesthetics giz,eti to three putients with Cockqne sjndrome are described. In two of these, tracheal intubation M'US dificult and the use of u lurjwgeul mask airway proved invaluable.

The management of a failed intubation in a nineteen-year-old patient suffering from Cockayne's syndrome is described. Use of a laryngeal mask prevented major anaesthetic morbidity. Tracheal intubation was subsequently facilitated by a fibreoptic bronchoscope passed through the laryngeal mask. Cockayne's syndrome is reviewed including recent important developments in its aetiology and pathogenesis.

Summary