Rare Diseases and Syndromes Observed in Newborn Babies with
                    Idiopathic Hypertrophic Pyloric Stenosis

Başak Kaya; Hasan Akduman; Dilek Dilli; Cem Geyik; Ayşe Karaman; Berna Uçan; Özkan Kaya; Seda Aydoğan; Ayşegül Zenciroğlu

doi:10.1055/a-2410-5830

Zeitschrift für Geburtshilfe und Neonatologie, Table of Contents

Z Geburtshilfe Neonatol 2025; 229(01): 53-59
DOI: 10.1055/a-2410-5830

Original Article

Rare Diseases and Syndromes Observed in Newborn Babies with Idiopathic Hypertrophic Pyloric Stenosis

Authors

Başak Kaya

¹Neonatology, SBU Ankara Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey (Ringgold ID: RIN146993)
Hasan Akduman

¹Neonatology, SBU Ankara Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey (Ringgold ID: RIN146993)
Dilek Dilli

¹Neonatology, SBU Ankara Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey (Ringgold ID: RIN146993)
Cem Geyik

¹Neonatology, SBU Ankara Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey (Ringgold ID: RIN146993)
Ayşe Karaman

²Pediatric Surgery, SBU Ankara Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey (Ringgold ID: RIN146993)
Berna Uçan

³Pediatric Radiology, SBU Ankara Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey (Ringgold ID: RIN146993)
Özkan Kaya

⁴Pediatric Cardiology, SBU Ankara Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey (Ringgold ID: RIN146993)
Seda Aydoğan

¹Neonatology, SBU Ankara Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey (Ringgold ID: RIN146993)
Ayşegül Zenciroğlu

¹Neonatology, SBU Ankara Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey (Ringgold ID: RIN146993)

Abstract

Aim Although infantile hypertrophic pyloric stenosis is a multifactorial disease caused by genetic and environmental factors, the role of genetic factors has become more important recently. With this study, we aimed to present rare diseases accompanying infantile hypertrophic pyloric stenosis caused by genetic factors.

Patients and Methods This is a retrospective study. Babies who were operated on with the diagnosis of infantile hypertrophic pyloric stenosis in the neonatal intensive care unit between 2000 and 2022 and had additional diseases were included in the study.

Results 9.8% of patients diagnosed with infantile hypertrophic pyloric stenosis had an accompanying rare disease.

Conclusion Early diagnosis and treatment of rare diseases associated with infantile hypertrophic pyloric stenosis are of great importance in reducing morbidity/mortality due to these diseases.

Keywords

pyloric stenosis - syndromic - diseases - metabolic - congenital anomaly - concomitant

Full Text

References

References
1 Garfield K, Sergent SR. Pyloric Stenosis 2023 Jan 30. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024.
2 Oetzmann von Sochaczewski C, Muensterer OJ. The incidence of infantile hypertrophic pyloric stenosis nearly halved from 2005 to 2017: analysis of German administrative data. Pediatr Surg Int 2021; 37: 579-585
3 Galea R, Said E. Infantile hypertrophic pyloric stenosis: An epidemiological review. Neonatal Netw 2018; 37: 197-204
4 Krogh C, Fischer TK, Skotte L. et al. Familial aggregation and heritability of pyloric stenosis. JAMA 2010; 303: 2393-2399
5 Peeters B, Benninga MA, Hennekam RC. Infantile hypertrophic pyloric stenosis – genetics and syndromes. Nat Rev Gastroenterol Hepatol 2012; 9: 646-660
6 Yang J, Weedon MN, Purcell S. et al. Genomic inflation factors under polygenic inheritance. Eur J Hum Genet 2011; 19: 807-812
7 Chung E. Infantile hypertrophic pyloric stenosis: genes and environment. Arch Dis Child 2008; 93: 1003-1004
8 Feenstra B, Gørtz S, Lund M. et al. Co-occurrence of infantile hypertrophic pyloric stenosis and congenital heart defects: a nationwide cohort study. Pediatr Res 2019; 85: 955-960
9 Schierz IA, Pinello G, Giuffrè M. et al. Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study. Early Hum Dev 2016; 103: 43-47
10 Wojtalik M, Mrowczynski W, Henschke J. et al. Congenital heart defect with associated malformations in children. J Pediatr Surg 2005; 40: 1675-1680
11 Güney LH, Araz C, Beyazpınar DS. et al. Abdominal problems in children with congenital cardiovascular abnormalities. Balkan Med J 2015; 32: 285-290
12 Rosa RC, Rosa RF, Zen PR. et al. Congenital heart defects and extracardiac malformations. Rev Paul Pediatr 2013; 31: 243-251
13 Gonzalez JH, Shirali GS, Atz AM. et al. Universal screening for extracardiac abnormalities in neonates with congenital heart disease. Pediatr Cardiol 2009; 30: 269-273
14 Örün UA, Bilici M, Demirçeken FG. et al. Gastrointestinal system malformations in children are associated with congenital heart defects. Anadolu Kardiyol Derg 2011; 1: 146-149
15 Chéhab G, Fakhoury H, Saliba Z. et al. Congenital heart disease associated with gastrointestinal malformations. J Med Liban 2007; 55: 70-74
16 Gokhroo RK, Gupta S, Arora G. et al. Prevalence of congenital heart disease in patients undergoing surgery for major gastrointestinal malformations: an Indian study. Heart Asia 2015; 7: 29-31
17 Hanauer DA, Rhodes DR, Chinnaiyan AM. Exploring clinical associations using “-omics” based enrichment analyses. PLoS One 2009; 4: e5203
18 Reamon-Buettner SM, Borlak J. NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD). Hum Mutat 2010; 31: 1185-1194
19 Stankiewicz P, Sen P, Bhatt SS. et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 2009; 84: 780-791
20 Everett KV, Ataliotis P, Chioza BA. et al. A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24. Pediatr Res 2017; 81: 632-638
21 Cuneo BF. Outcome of fetal cardiac defects. Curr Opin Pediatr 2006; 18: 490-496
22 Sivanandam S, Glickstein JS, Printz BF. et al. Prenatal diagnosis of conotruncal malformations: diagnostic accuracy, outcome, chromosomal abnormalities, and extracardiac anomalies. Am J Perinatol 2006; 23: 241-245
23 Wernovsky G, Shillingford AJ, Gaynor JW. Central nervous system outcomes in children with complex congenital heart disease. Curr Opin Cardiol 2005; 20: 94-99
24 Tennakoon J, Koh TH, Alcock G. Pyloric stenosis in a newborn baby with polycystic kidneys. J Perinatol 2007; 27: 125-126
25 Mishra K, Batra VV, Basu S. et al. Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency-x-linked recessive ichthyosis: a case report and review of literature. Eur J Pediatr 2012; 171: 847-850
26 Shapiro AJ, Davis SD, Ferkol T. et al. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest 2014; 146: 1176-1186
27 Lee SE, Kim HY, Jung SE. et al. Situs anomalies and gastrointestinal abnormalities. J Pediatr Surg 2006; 41: 1237-1242
28 Gupta R, Soni V, Valse PD. et al. Neonatal intestinal obstruction associated with situs inversus totalis: two case reports and a review of the literature. J Med Case Rep 2017; 11: 264
29 Swanson MA, Coughlin CR, Scharer GH. et al. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 2015; 78: 606-618
30 Suzuki Y, Kure S, Oota M. et al. Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy. Pediatr Neurol 2010; 43: 221-224
31 Summar ML, Koelker S, Freedenberg D. et al. The incidence of urea cycle disorders. Mol Genet Metab 2013; 110: 179-180
32 Dessay S, Moizard MP, Gilardi JL. et al. FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. Am J Med Genet 2002; 112: 6-11
33 Sugarman EA, Nagan N, Zhu H. et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 2012; 20: 27-32
34 Galvis DA, Ang SM, Wells TR. et al. Microdissection study of the myentric plexus in acardia, ataxia-telangiectasia, cystic fibrosis, extrahepatic biliary atresia, pediatric AIDS and Werdnig-Hoffmann disease. Pediatr Pathol 1992; 12: 385-395
35 Bricceno KV, Martinez T, Leikina E. Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. Hum Mol Genet 2014; 23: 4745-4757
36 Yang Y, Vassilakos G, Hammers DW. et al. Smooth muscle atrophy and colon pathology in SMN deficient mice. Am J Transl Res 2019; 11: 1789-1799
37 Messina S, Pane M, De Rose P. et al. Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscul Disord 2008; 18: 389-393
38 Sintusek P, Catapano F, Angkathunkayul N. et al. Histopathological defects in intestine in severe spinal muscular atrophy mice are improved by systemic antisense oligonucleotide treatment. PLoS One 2016; 11: e0155032
39 Wan B, Feng P, Guan Z. et al. A severe mouse model of spinal muscular atrophy develops early systemic inflammation. Hum Mol Genet 2018; 27: 4061-4076
40 Schreml J, Riessland M, Paterno M. et al. Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585. Eur J Hum Genet 2012; 21: 643-652
41 Schechter R, Torfs CP, Bateson TF. The epidemiology of infantile hypertrophic pyloric stenosis. Paediatr Perinat Epidemiol 1997; 11: 407-427
42 Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232
43 Pober BR. Williams-Beuren syndrome. N Engl J Med 2010; 362: 239-252
44 Kozel BA, Barak B, Kim CA. et al. Williams syndrome. Nat Rev Dis Primers 2021; 7: 42
45 Alfieri P, Scibelli F, Montanaro FAM. et al. Differences and similarities in adaptive functioning between children with autism spectrum disorder and Williams-Beuren syndrome: A longitudinal study. Genes (Basel) 2022; 13: 1266
46 Cherniske EM, Carpenter TO, Klaiman C. et al. Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet A 2004; 131: 255-264
47 Gilbert-Barness E, Fox T, Morrow G. et al. Williams syndrome associated with Crohn disease, multiple infections, and chronic granulomatous disease. Fetal Pediatr Pathol 2004; 23: 29-37
48 Raber MM, Bowling SM, Dorn M. Complicated diverticulitis in a 35-year-old patient with Williams syndrome: A case report. Cureus 2022; 14: e26604
49 Ravel A, Mircher C, Rebillat AS. et al. Feeding problems and gastrointestinal diseases in Down syndrome. Arch Pediatr 2020; 27: 53-60
50 Yokoyama S, Uyama S, Iwagami H. et al. Successful combination of endoscopic pyloromyotomy and balloon dilatation for hypertrophic pyloric stenosis in an older child: A novel procedure. Surg Case Rep 2016; 2: 145
51 Pueyo Gil C, Oshiro K, Elías Pollina J. et al. Aumento de la expresión del proteoglicano condroitín-sulfato, fbronectina y fbroblastos en la estenosis hipertrófca de píloro [Increase of the chondroitinsulfate proteoglycan, fbronectin and fbroblasts in infantile hypertrophic pyloric stenosis]. Cir Pediatr 2001; 14: 103-107