Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.

Autor:	Erdal İ; Division of Pediatric Metabolism, Department of Pediatrics, Hacettepe University İhsan Doğramacı Children's Hospital, Ankara, Türkiye.; Clinic of Pediatric Metabolic Diseases, Etlik City Hospital, Ankara, Türkiye., Yıldız Y; Division of Pediatric Metabolism, Department of Pediatrics, Hacettepe University İhsan Doğramacı Children's Hospital, Ankara, Türkiye., Kuseyri Hübschmann O; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany., Haas D; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany., Günbey C; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University İhsan Doğramacı Children's Hospital, Ankara, Türkiye., Ertuğrul İ; Division of Pediatric Cardiology, Department of Pediatrics, Hacettepe University İhsan Doğramacı Children's Hospital, Ankara, Türkiye., Yalnızoğlu D; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University İhsan Doğramacı Children's Hospital, Ankara, Türkiye.
Jazyk:	angličtina
Zdroj:	Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Jul 04; Vol. 37 (8), pp. 741-744. Date of Electronic Publication: 2024 Jul 04 (Print Publication: 2024).
DOI:	10.1515/jpem-2023-0518
Abstrakt:	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. (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
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