J Korean Soc Pediatr Nephrol.  2007 Apr;11(1):100-105.

A Case of Cockayne Syndrome with Focal Segmental Glomerulosclerosis

• Shin HK
• Kim GH
• Yim HE
• Yoo KH
• Hong YS
• Lee JW
• Won NH

Abstract

Cockayne syndrome is a rare autosomal recessive disorder characterized by cachectic dwarfism, mental retardation, loss of facial subcutaneous adipose tissue, microcephaly and photosensitive dermatitis. It is associated with renal abnormalities characterized by hyalinization of glomeruli, atrophy of tubules and interstitial fibrosis. To our knowledge, this is the first report of a case of Cockayne syndrome with FSGS in Korea. A 7-year old boy was admitted for evaluation of hypertension and proteinuria, which were detected 2 month ago. He was followed for short stature(<3 percentile), mental retardation(IQ 55), strabismus and dental caries since 3 years ago. He also showed microcephaly, a bird-like face and relatively large hands and feet. Laboratory findings showed decreased creatinine clearance(CCr 76.1 mL/min/1.73m2) and proteinuria(1,548 mg/day). Renal biopsy demonstrated focal segmental glomerulosclerosis of the hilar type with large hyaline deposits, moderate tubular atrophy and interstitial fibrosis. His cardinal features, mental retardation, and renal biopsy findings were consistent with Cockayne syndrome. We report here a very rare case of Cockayne syndrome with FSGS presenting with proteinuria and hypertension.

Keyword

Cockayne Syndrome; Focal segmental glomerulosclerosis; Hypertension

MeSH Terms

Atrophy
Biopsy
Child
Cockayne Syndrome*
Creatinine
Dental Caries
Dermatitis
Dwarfism
Fibrosis
Foot
Glomerulosclerosis, Focal Segmental*
Hand
Humans
Hyalin
Hypertension
Intellectual Disability
Korea
Male
Microcephaly
Proteinuria
Strabismus
Subcutaneous Fat
Creatinine