Case Report of Siblings Presenting with Suspected Cockayne Syndrome

Abstract

In this case report, the two siblings are described. Both siblings showed developmental delay after one year of birth and presented with facial dysmorphism, irritablity, overdemanding, hyperactivity, poor scholastic performances, since 5yrs of age .Both have vision problem since 9yrs of age and younger sibling has night blindness for one year .They have history of repeated respiratory tract infection since childhood and younger one has right emphysematous, bronchiectatic lung. Their social interaction was normal. They were investigated and a diagnostic suspicion of Cockayne syndrome was made. Cockayne syndrome also called weber-Cockayne syndrome, or (Neill-Dingwall syndrome) is a rare autosomal recessive congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitiity), and premature ageing. Hearing loss and eye abnormalities (pigmentary retinopathy) are other common features, but problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies (conditions characterized by degradation of white matter). The underlying disorder is a defect in a DNA repair mechanism. This case fulfils the diagnostic criteria for classical Cockayne syndrome. The siblings presented with mental retardation and behavioural problems, and were treated with antipsychotics. As per literature only one case has been reported as Cockayne syndrome with psychotic problems, who died at age of 22. This syndrome is mainly identified by clinical features and Neuro imaging technique and confirmed by genetic studies.