Related Experiment Videos
Cockayne syndrome in three sisters with varying clinical presentation
Adel A H Mahmoud1, George M Yousef, Ibrahim Al-Hifzi
1Division of Neurology, Hospital For Sick Children, Toronto, Ontario, Canada. amahmoud2000@hotmail.com
Insights
Cockayne syndrome (CS) is a rare genetic disorder. This study highlights variable clinical severity in affected sisters, suggesting potential differences in disease progression and manifestation despite a shared genetic mutation.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by premature aging, neurological deficits, and growth retardation.
- Early diagnosis and understanding the genetic basis of CS are crucial for patient management and genetic counseling.
Observation:
- A family presented with three sisters diagnosed with Cockayne syndrome.
- The proband, a 12-year-old girl, exhibited typical CS features including growth and developmental delay, confirmed by CT scans, X-rays, and auditory/ophthalmological evaluations.
- Two younger sisters presented with similar but more severe manifestations, including cataracts and early global delay, leading to early mortality.
Findings:
- The third sister displayed milder CS manifestations with later onset and no cataracts, surviving longer.
- Clinical severity varied significantly among the affected sisters, despite presumed shared genetic mutation.
- The parents were unrelated, and the father had unaffected children with two other wives, supporting an autosomal recessive inheritance pattern.
Implications:
- This case series underscores the significant intrafamilial variability in Cockayne syndrome clinical presentation.
- Understanding this variability is essential for accurate prognostication and tailored clinical management of affected individuals.
- Further research into modifier genes or epigenetic factors may elucidate the basis for differential disease severity in CS.
Abstract:
We report three sisters showing the clinical features and investigational findings of Cockayne syndrome (CS). In the rehabilitation unit of Northwest Armed Forces Hospital (N.W.A.F.H.), Tabuk, Saudi Arabia, there was a 12-year-old girl with typical features of CS. The girl had no apparent problems until the end of the first year when growth and developmental delay prompted medical evaluation. Brain CT, bone X-rays, auditory and ophthalmological evaluation confirmed the clinical impression of Cockayne syndrome. Two of her 13 sibs, both sisters, were later found to have the same syndrome. The sisters varied in clinical severity, as two of them had cataracts and early global delay and died early of inanition and infection. The third showed the disease manifestations at a relatively later age, did not have cataract, exhibited milder manifestations of the disease, and remains alive. The parents are not related by any way and the father is married to two other wives with 11 unaffected children. This report documents variable degrees of manifestations in sibs who presumably have the same gene mutation.