A Case of 25 Year Old Dwarf with Classic Cockayne Syndrome

Abstract

A 25 year old, short stature man of non-consanguineous parents, attended with acute respiratory tract infection
along with progressive difficulties in walking, hearing and vision. He had the complaints of growth retardation, poor
feeding, listless attitude and delayed milestones of development since one year of age. At presentation, he was non
cooperative, IQ below 50; height and weight were below 5th percentile. He had progeria with enophthalmos, cataract,
corneal opacity, miotic pupils, tremor, ataxia, in-coordination of movement, diminished tendon reflexes, unsteady
gait, bilateral sensory neural deafness and hepatomegaly. Lateral skull X-ray showed cortical calcification. MRI of
brain revealed bilateral dentate nucleus and basal ganglia calcification, generalized cerebral and cerebellar
atrophy and ventricular dilatation. Typical clinical and imaging findings clinched the diagnosis of classic Cockayne
Syndrome; which is a rare, autosomal recessive, DNA repair deficient, multisystem disorder. It has no cure and the
prognosis is poor.

Keywords: Classic Cockayne syndrome; Dwarfism; Basal ganglia calcification; Cerebral atrophy

DOI: 10.3329/jom.v11i2.5470

J MEDICINE 2010; 11 : 186-188