ArticleItalian journal of pediatrics2022
Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report.
Article in Italian journal of pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 27 citations in OpenAlex.
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- Prenatal diagnosis and molecular cytogenetic analysis of Xp22.31 microdeletions and microduplications in Chinese populations.BMC pregnancy and childbirth · 2026Article
- Neonatal Esophageal Perforation: A Comprehensive Review of the Literature.Journal of clinical medicine · 2026Review
- Iatrogenic esophageal perforation in extremely preterm newborn with multiple comorbidities: case report and ethical considerations.Frontiers in pediatrics · 2026Article
- Necrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association?Journal of clinical medicine · 2025Article
- Glucose-6-phosphate dehydrogenase deficiency induced hemolytic anemia and methemoglobinemia: a case report in a 7 -year-old female patient.Italian journal of pediatrics · 2025Article
- Correlation analysis between patent ductus arteriosus and bronchopulmonary dysplasia in premature infants.Italian journal of pediatrics · 2025Article
- Acute splenic torsion in an adolescent with polysplenia syndrome: case report.Italian journal of pediatrics · 2025Article
- Concurrent mutations in RNU4ATAC, PLEC, and CD96 in a child with severe short stature and skeletal dysplasia: a case report.Italian journal of pediatrics · 2025Article
- Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.Translational pediatrics · 2025Article
- Citrobacter and Acinetobacter are respectively involved in feeding intolerance in preterm infants of different gestational ages: a prospective case-control study.Italian journal of pediatrics · 2025Article
- Complicated Infantile Hemangiomas in the palate: case report of a newborn patient and review of the literature.Italian journal of pediatrics · 2025Review
- Point-of-care ultrasound estimation of gastric residual volume in preterm infants: development of a calculation model.Italian journal of pediatrics · 2025Observational
- Clinical characterization of necrotizing enterocolitis in neonates with or without congenital heart disease: a case-control study.Italian journal of pediatrics · 2025Article
- Article
- KBG syndrome: report and follow-up on three unrelated patients observed at different ages.Italian journal of pediatrics · 2025Article
- Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants.Italian journal of pediatrics · 2025Article
- Clinical evaluation of serum miR-513a-3p combined with arterial blood gas analysis parameters and lung ultrasound score in neonatal respiratory distress syndrome.Italian journal of pediatrics · 2024Article
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9 authors at 2 institutions in 2 countries.
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Abstract
backgroundContiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene (STS) and contiguously located other genes expanding the phenotype. In large deletions, that encompass also the Kallmann syndrome 1 gene (KAL1), occasionally infantile hypertrophic pyloric stenosis (IHPS) and congenital anomalies of the kidney and urinary tract (CAKUT) have been reported. PATIENT PRESENTATION: We report on a male newborn with family history in maternal uncle of renal abnormalities and short stature still without ichthyosiform dermatosis. The baby presented CAKUT with kidney failure and progressive vomiting. Renal bicarbonate loss masked hypochloremic and hypokalemic metabolic alkalosis classically present in IHPS and delayed its diagnosis. Antropyloric ultrasound examination and cystourethrography were diagnostic. After Fredet-Ramstedt extramucosal pyloromyotomy feeding and growing was regular and he was discharged home. Comparative whole-genome hybridization detected a maternal inherited interstitial deletion of 1.56 Mb on Xp22.31(6,552,712_8,115,153) × 0 involving the STS gene, but not the KAL1 gene.
conclusionsAberrant cholesterol sulfate storage due to STS deletion as the underlying pathomechanism is not limited to oculocutaneous phenotypes but could also lead to co-occurrence of both IHPS and kidney abnormalities, as we report. Thus, although these two latter pathologies have a high incidence in the neonatal age, their simultaneous association in our patient is resembling not a chance but a real correlation expanding the clinical spectrum associated with Xp22.31 deletions.
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