Research from Hacettepe University Yields New Data on Atrioventricular Canal Defect (Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report).

A recent study from Hacettepe University discusses the rare condition known as dihydropyrimidinase deficiency and its association with atrioventricular canal defect. The study presents a case of a four-year-old male with global developmental delay, dysmorphic facies, autistic features, and a history of seizures, who was diagnosed with dihydropyrimidinase deficiency. The patient also had a history of complete atrioventricular septal defect, which was surgically corrected in infancy. The researchers suggest that dihydropyrimidinase deficiency should be considered in patients with microcephaly, developmental delay, epilepsy, and autistic traits, and that congenital heart disease may be a rare phenotypic feature of the condition. [Extracted from the article]