A Case of 25 Year Old Dwarf with Classic Cockayne Syndrome
Keywords:Classic Cockayne syndrome, Dwarfism, Basal ganglia calcification, Cerebral atrophy
AbstractA 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
J MEDICINE 2010; 11 : 186-188
How to Cite
LicenseAuthors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).