TITLE:
Case Report: Four Siblings with Osteopetrosis and Pyloric Stenosis and Three Cousins with Osteopetrosis
AUTHORS:
Fahad Mishal Al Harbi, Elsharif A. Bazie, Marwah Ali Al Hausa, Lamyaa Alomar, Tasneem H. Aldraye
KEYWORDS:
Osteopetrosis, Pyloric Stenosis, Siblings
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.13 No.5,
August
18,
2023
ABSTRACT: Osteopetrosis incidence is less than 1:200,000 births in most populations. It’s more common in
consanguineous people as it’s unusual for two members of the same family. The
incidence of Hypertrophic pyloric stenosis is 1 in 300 - 900 newborns.
Hypertrophic pyloric stenosis is due to hypertrophy of the smooth muscle of the
pyloric sphincter. The classic age of occurrence is the first few months of
life, and the classic presentation is non-bilious projectile vomiting after
feeding. We report a rare association of osteopetrosis and pyloric stenosis in four
siblings and osteopetrosis in three cousins. All four patients were operated on
and followed by nephrology and metabolic departments for osteopetrosis and
metabolic acidosis.