New syndrome involving the visual, auditory, respiratory, gastrointestinal, and renal systems.
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.
Siegler
R L
RL
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.
Brewer
E D
ED
Carey
J C
JC
D002675:Child, Preschool; D005260:Female; D005767:Gastrointestinal Diseases / Q000150:complications*; D006314:Hearing Loss, Conductive / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000150:complications*; D008297:Male; D012140:Respiratory Tract Diseases / Q000150:complications*; D013577:Syndrome; D014786:Vision Disorders / Q000150:complications*