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New syndrome involving the visual, auditory, respiratory, gastrointestinal, and renal systems
R L Siegler1, E D Brewer, J C Carey
1Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.
Insights
A rare genetic disorder caused severe multisystem problems in siblings, affecting eyes, ears, lungs, and kidneys. This fatal condition, likely inherited, led to early death from infections.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- A novel fatal multisystem genetic syndrome is described.
- The syndrome affects multiple organs including eyes, ears, lungs, intestines, and kidneys.
Observation:
- Siblings presented in early childhood with cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive.
- Later development included recurrent pneumonia, immotile bronchial cilia, and progressive azotemia leading to end-stage renal disease (ESRD).
Findings:
- Both affected siblings died from overwhelming infections (sepsis, meningitis) in late childhood.
- An autosomal recessive inheritance pattern is suggested due to consanguineous parents and unaffected siblings.
Implications:
- This case highlights a new genetic syndrome with significant early-onset morbidity and mortality.
- Understanding the genetic basis is crucial for potential diagnosis and management of similar rare multisystem disorders.
Abstract:
A previously undescribed fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys occurred in sibs. They both presented during early childhood with cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. Later, they developed recurrent pneumonia (one was shown to have immotile bronchial cilia) and progressive azotemia leading to end-stage renal disease (ESRD) by late childhood. Both died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance is proposed since the normal parents were distant cousins, and 4 other sibs were normal.