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.
References
[1]
Worth, H.M. (1963) Principles and Practice of Oral Radiologic Interpretation. Year Book Medical Publishers, Chicago.
[2]
Van Hul, W.V. (2001) Molecular and Radiological Diagnosis of Sclerosing Bone Dysplasias. European Journal of Radiology, 40, 198-207.
https://doi.org/10.1016/S0720-048X(01)00400-4
[3]
Sajjan, P.G. (2020) Infantile Osteopetrosis—A Case Series. Medica, 9, 119.
[4]
Othman, I.S. (2009) Mild Autosomal Recessive Osteopetrosis: Successful Treatment with Bone Marrow Transplant. The Medical Journal of Malaysia, 64, 325-326.
[5]
Albers-Schonberg, H. (1904) Rntgenbilder einer seltenen Knochenkrankung. Münchener medizinische Wochenschrift, 51, 365.
[6]
Shapiro, F. (1993) Osteopetrosis. Current Clinical Considerations. Clinical Orthopaedics and Related Research, 294, 34-44.
https://doi.org/10.1097/00003086-199309000-00005
[7]
Driessen, G.J. (2003) Long-Term Outcome of Haematopoietic Stem Cell Transplantation in Autosomal Recessive Osteopetrosis: An EBMT Report. Bone Marrow Transplantation, 32, 657-663. https://doi.org/10.1038/sj.bmt.1704194
[8]
Key Jr., L.L. (1992) Recombinant Human Interferon Gamma Therapy for Osteopetrosis. The Journal of Pediatrics, 121, 119-124.
https://doi.org/10.1016/S0022-3476(05)82557-0
[9]
Das, N.S. (2022) Osteopetrosis: A Rare Case. Annals of Medical Science & Research, 1, 93-96. https://doi.org/10.4103/amsr.amsr_26_22
[10]
Sabiston, D.C. (2001) Sabiston Textbook of Surgery: The Biological Basis of Modern Surgical Practice. WB Saunders, Philadelphia.
[11]
Rogers, I.M. (2023) Pyloric Stenosis of Infancy (PS): Discovering the Cause. Journal of Pediatric Surgery. https://doi.org/10.1016/j.jpedsurg.2023.01.064
[12]
Olson, A.D. (1998) The Role of Ultrasonography in the Diagnosis of Pyloric Stenosis: A Decision Analysis. Journal of Pediatric Surgery, 33, 676-681.
https://doi.org/10.1016/S0022-3468(98)90186-5
[13]
Guibaud, P.L. (1972) Osteopetrosis and Renal Tubular Acidosis. 2 Cases of This Association in a Sibship. Archives Francaises de Pediatrie, 29, 269-286.
[14]
Vainsel, M.F. (1972) Osteopetrosis Associated with Proximal and Distal Tubular Acidosis. Acta Paediatrica, 61, 429-434.
https://doi.org/10.1111/j.1651-2227.1972.tb15859.x
[15]
Ohlsson, A.S. (1980) Marble Brain Disease: Recessive Osteopetrosis, Renal Tubular Acidosis and Cerebral Calcification in Three Saudi Arabian Families. Developmental Medicine & Child Neurology, 1, 72-84.
https://doi.org/10.1111/j.1469-8749.1980.tb04307.x
[16]
Al Rajeh, S.E. (1988) The Syndrome of Osteopetrosis, Renal Acidosis and Cerebral Calcification in Two Sisters. Neuropediatrics, 19, 162-165.
https://doi.org/10.1055/s-2008-1052422
[17]
Ocal, G.B. (2001) Osteopetrosis, Renal Tubular Acidosis without Urinary Concentration Abnormality, Cerebral Calcification and Severe Mental Retardation in Three Turkish Brothers. Journal of Pediatric Endocrinology and Metabolism, 14, 1671-1678.
https://doi.org/10.1515/JPEM.2001.14.9.1671
[18]
Cockayne, E.A. (1943) The Genetics of Congenital Pyloric Stenosis. The Ohio Journal of Science, 43, 1-16.
[19]
Lalouel, J.M. (1977) Recurrence Risks in Complex Inheritance with Special Regard to Pyloric Stenosis. Journal of Medical Genetics, 14, 408-414.
https://doi.org/10.1136/jmg.14.6.408
[20]
Mitchell Le, R.N. (1993) The Genetics of Infantile Hypertrophic Pyloric Stenosis: A Reanalysis. The American Journal of Diseases of Children, 147, 1203-1211.
https://doi.org/10.1001/archpedi.1993.02160350077012
[21]
Ismail, I.E. (2020) Laparoscopic vs. Open Pyloromyotomy in Treatment of Infantile Hypertrophic Pyloric Stenosis. Frontiers in Pediatrics, 8, Article No. 426.
https://doi.org/10.3389/fped.2020.00426
[22]
MacMahon, B. (2006) The Continuing Enigma of Pyloric Stenosis of Infancy a Review. Epidemiology, 17, 195-201.
https://doi.org/10.1097/01.ede.0000192032.83843.c9
[23]
Schechter, R.T. (1997) The Epidemiology of Infantile Hypertrophic Pyloric Stenosis. Paediatric and Perinatal Epidemiology, 11, 407-427.
https://doi.org/10.1046/j.1365-3016.1997.d01-32.x
[24]
Velaoras, K.B. (2005) Hypertrophic Pyloric Stenosis in Twins: Same Genes or Same Environments? Pediatric Surgery International, 21, 669-671.
https://doi.org/10.1007/s00383-005-1435-4
[25]
Rasmussen, L.G. (1989) The Epidemiology of Infantile Hypertrophic Pyloric Stenosis in a Danish Population. International Journal of Epidemiology, 18, 413-417.
https://doi.org/10.1093/ije/18.2.413
[26]
Jedd, M.B. (1988) Factors Associated with Infantile Hypertrophic Pyloric Stenosis. American Journal of Diseases of Children, 142, 334-337.
https://doi.org/10.1001/archpedi.1988.02150030108033
Svenningsson, A.S. (2014) Maternal and Pregnancy Characteristics and Risk of Infantile Hypertrophic Pyloric Stenosis. Journal of Pediatric Surgery, 49, 1226-1231.
https://doi.org/10.1016/j.jpedsurg.2014.01.053
[29]
Krogh, C.F. (2010) Familial Aggregation and Heritability of Pyloric Stenosis. JAMA, 303, 2393-2399. https://doi.org/10.1001/jama.2010.784
[30]
Krogh, C.G. (2012) Pre- and Perinatal Risk Factors for Pyloric Stenosis and Their Influence on the Male Predominance. American Journal of Epidemiology, 176, 24-31. https://doi.org/10.1093/aje/kwr493
[31]
Carter, C.O. (1969) Inheritance of Congenital Pyloric Stenosis. Journal of Medical Genetics, 6, 233. https://doi.org/10.1136/jmg.6.3.233
[32]
McKeown, T.M. (1951) The Incidence of Congenital Pyloric Stenosis Related to Birth Rank and Maternal Age. Annals of Eugenics, 16, 249-259.
https://doi.org/10.1111/j.1469-1809.1951.tb02478.x
