A Case of 25 Year Old Dwarf with Classic Cockayne Syndrome

Authors

  • Fazle Rabbi Mohammed Post Graduate Trainee, Department of Medicine, Dhaka Medical College Hospital, Dhaka
  • FR Chowdhury Post Graduate Trainee, Department of Medicine, Dhaka Medical College Hospital, Dhaka
  • Zannatun Nur Post Graduate Trainee, Department of Medicine, Dhaka Medical College Hospital, Dhaka
  • MZ Shams Assistant Registrar, Department of Medicine, Dhaka Medical College Hospital, Dhaka
  • MB Alam Associate Professor, Department of Medicine, Dhaka Medical College, Dhaka
  • HAMN Ahasan Professor, Department of Medicine, Dhaka Medical College, Dhaka.

DOI:

https://doi.org/10.3329/jom.v11i2.5470

Keywords:

Classic Cockayne syndrome, Dwarfism, Basal ganglia calcification, Cerebral atrophy

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

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How to Cite

Mohammed, F. R., Chowdhury, F., Nur, Z., Shams, M., Alam, M., & Ahasan, H. (2010). A Case of 25 Year Old Dwarf with Classic Cockayne Syndrome. Journal of Medicine, 11(2), 186–188. https://doi.org/10.3329/jom.v11i2.5470

Issue

Section

Case Reports