Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report
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İzzet Erdal
,
Yılmaz Yıldız
,
Oya Kuseyri Hübschmann
Abstract
Objectives
Dihydropyrimidinase deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway, with fewer than 40 patients published. Clinical findings are variable and some patients may remain asymptomatic. Global developmental delay and increased susceptibility to 5-fluorouracil are commonly reported. Here we present atrioventricular septal defect as a novel feature in dihydropyrimidinase deficiency.
Case presentation
A four-year-old male with global developmental delay, dysmorphic facies, autistic features and a history of seizures was diagnosed with dihydropyrimidinase deficiency based on strikingly elevated urinary dihydrouracil and dihydrothymine and a homozygous pathogenic nonsense variant in DPYS gene. He had a history of complete atrioventricular septal defect corrected surgically in infancy.
Conclusions
This is the second report of congenital heart disease in dihydropyrimidinase deficiency, following a single patient with a ventricular septal defect. The rarity of the disease and the variability of the reported findings make it difficult to describe a disease-specific clinical phenotype. The mechanism of neurological and other systemic findings is unclear. Dihydropyrimidinase deficiency should be considered in patients with microcephaly, developmental delay, epilepsy and autistic traits. We suggest that congenital heart disease may also be a rare phenotypic feature.
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Research ethics: The Hacettepe University Ethics Committee deemed the study exempt from review.
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Informed consent: Informed consent was obtained from the person included in this study.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Research funding: None declared.
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Artikel in diesem Heft
- Frontmatter
- Original Articles
- Association between perinatal and obstetric factors and early age at diagnosis of type 1 diabetes mellitus: a cohort study
- Outcomes of growth hormone treatment in children with Prader–Willi syndrome over a 30-year period: a single tertiary center experience
- Early blood glucose screening in asymptomatic high-risk neonates
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- Evaluation of aortic elasticity properties in mucopolysaccharidosis patients; effect of enzyme replacement therapy (ERT) on aortic stiffness
- Incidence and associated risk factors of congenital hypothyroidism among newborns in Hainan, China: a retrospective study
- Retrospective evaluation of patients diagnosed with central precocious puberty who reached the final height
- Short Communications
- Adult endocrinologists’ perspectives on transitioning adolescent patients with congenital adrenal hyperplasia
- Robust growth hormone responses to GH-releasing peptide 2 in adolescents
- Case Reports
- STX16 exon 5–7 deletion in a patient with pseudohypoparathyroidism type 1B
- Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report
- Novel homozygous mutation in SCNN1A gene in an Iranian boy with PHA1B
- SRY-positive 45,X/46,XY karyotype in a phenotypically Turner-like Chinese adolescent female with ovarian dysgerminoma and gonadoblastoma
- Erratum
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Artikel in diesem Heft
- Frontmatter
- Original Articles
- Association between perinatal and obstetric factors and early age at diagnosis of type 1 diabetes mellitus: a cohort study
- Outcomes of growth hormone treatment in children with Prader–Willi syndrome over a 30-year period: a single tertiary center experience
- Early blood glucose screening in asymptomatic high-risk neonates
- Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta
- Evaluation of aortic elasticity properties in mucopolysaccharidosis patients; effect of enzyme replacement therapy (ERT) on aortic stiffness
- Incidence and associated risk factors of congenital hypothyroidism among newborns in Hainan, China: a retrospective study
- Retrospective evaluation of patients diagnosed with central precocious puberty who reached the final height
- Short Communications
- Adult endocrinologists’ perspectives on transitioning adolescent patients with congenital adrenal hyperplasia
- Robust growth hormone responses to GH-releasing peptide 2 in adolescents
- Case Reports
- STX16 exon 5–7 deletion in a patient with pseudohypoparathyroidism type 1B
- Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report
- Novel homozygous mutation in SCNN1A gene in an Iranian boy with PHA1B
- SRY-positive 45,X/46,XY karyotype in a phenotypically Turner-like Chinese adolescent female with ovarian dysgerminoma and gonadoblastoma
- Erratum
- Timing of onset of menses after GnRH agonist treatment for central precocious puberty
