Dataset Information

Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant.

ABSTRACT: Citrullinemia type I (CTLN1) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency, CTLN1 can lead to recurrent hyperammonemic crisis that may result in permanent neurologic sequelae. Vomiting in patients with urea cycle disorders may either be the result or cause of acute hyperammonemia, particularly if due to an illness that leads to catabolism. Therefore, age-appropriate common etiologies of vomiting must be considered when evaluating these patients. We present a 1-month old male infant with CTLN1 who had a 1-week history of vomiting and was discovered to have hypertrophic pyloric stenosis. This is the first documented case of an infant with CTLN1 who was later diagnosed with hypertrophic pyloric stenosis, and only the second case of concomitant disease.

SUBMITTER: Rhee Y

PROVIDER: S-EPMC3981224 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature

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Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant.

Rhee Yoona Y Heaton Todd T Keegan Catherine C Ahmad Ayesha A

Clinics and practice 20130125 1

Citrullinemia type I (CTLN1) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency, CTLN1 can lead to recurrent hyperammonemic crisis that may result in permanent neurologic sequelae. Vomiting in patients with urea cycle disorders may either be the result or cause of acute hyperammonemia, particularly if due to an illness that leads to catabolism. Therefore, age-appropriate common etiologies of vomi ...[more]

PMID: 24765495

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Project description:ObjectiveTo assess the association between use of macrolide antibiotics in mothers and infants from pregnancy onset until 120 days after birth and infantile hypertrophic pyloric stenosis (IHPS).DesignNationwide register based cohort study.SettingDenmark, 1996-2011.Participants999,378 liveborn singletons and linked individual level information on macrolide prescriptions (maternal use during pregnancy, n=30,091; maternal use after birth, n=21,557; use in infants, n=6591), surgery for IHPS, and potential confounders.Main outcome measuresSurgery for IHPS by three categories of macrolide use: in mothers during pregnancy, in mothers after birth, and in infants after birth.Results880 infants developed IHPS (0.9 cases per 1000 births). Compared with infants with no use of macrolides, the adjusted rate ratio for IHPS in infants with use of macrolides during days 0 to 13 after birth was 29.8 (95% confidence interval 16.4 to 54.1) and during days 14 to 120 was 3.24 (1.20 to 8.74); the corresponding absolute risk differences were 24.4 (95% confidence interval 13.0 to 44.1) and 0.65 (0.06 to 2.21) cases per 1000 infants exposed to macrolides, respectively. The rate ratio for maternal use of macrolides for days 0 to 13 after birth was 3.49 (1.92 to 6.34) and for days 14 to 120 was 0.70 (0.26 to 1.90); the corresponding absolute risk differences were 2.15 (0.82 to 4.64) and -0.11 (-0.26 to 0.31). The rate ratios for maternal use of macrolides during pregnancy were 1.02 (0.65 to 1.59) for weeks 0 to 27 and 1.77 (0.95 to 3.31) for weeks 28 to birth; the corresponding absolute risk differences were 0.01 (-0.31 to 0.50) and 0.67 (-0.06 to 2.02).ConclusionsTreatment of young infants with macrolide antibiotics was strongly associated with IHPS and should therefore only be administered if potential treatment benefits outweigh the risk. Maternal use of macrolides during the first two weeks after birth was also associated with an increased risk of IHPS. A possible association was also found with use during late pregnancy.

Dataset Information

Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant.

Publications

Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant.

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