Cockayne Syndrome: A rare neurodegenerative disorder- A case report

Authors

  • Farah Naz Dola MD Phase B Resident, Department of Pediatric Neurology, Bangladesh Medical University , Dhaka, Bangladesh
  • Gopen Kumar Kundu Professor, Department of Paediatric Neurology, Bangladesh Medical University , Dhaka, Bangladesh
  • Quddus Miah Resident, MD Phase-B (Paediatric Neurology & Neurodevelopment), Dept. of Paediatric Neurology, Bangladesh Medical University , Dhaka, Bangladesh
  • Anita Sarker Resident, MD Phase-B, (Paediatric Neurology & Neurodevelopment), Dept. of Paediatric Neurology, Bangladesh Medical University, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/jbcps.v43i4.85000

Keywords:

Cockayne syndrome, neurodegenerative disorder

Abstract

Cockayne Syndrome (CS) is a rare autosomal recessive disorder characterised by multi-systemic involvement, including developmental delay, microcephaly, cachectic dwarfism, hearing  and visual impairment, cardiac, renal and endocrine complications due to a defect in the DNA repair mechanism. The striking feature of CS is bilateral basal ganglia calcifications. We are presenting a 9-month-old boy presenting with developmental delay, microcephaly, multiple renal abnormalities and the brain CT scan showing bilateral basal ganglia calcifications.

J Bangladesh Coll Phys Surg 2025; 43: 303-305

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Published

2025-10-30

How to Cite

Dola, F. N., Kundu, G. K., Miah, Q., & Sarker, A. (2025). Cockayne Syndrome: A rare neurodegenerative disorder- A case report. Journal of Bangladesh College of Physicians and Surgeons, 43(4), 303–305. https://doi.org/10.3329/jbcps.v43i4.85000

Issue

Vol. 43 No. 4 (2025)

Section

Case Reports

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