A Colombian Boy with a Novel de novo Variant: A Case Report.

INTRODUCTION

syndrome is a neurodevelopmental disease caused by de novo pathogenic variants in encoding the purine-binding element alpha protein. It is characterized by autosomal dominant inheritance and a heterogeneous phenotype.

CASE PRESENTATION

We describe a 7-year-old patient with history of congenital pneumonia, accompanied by hypotonia, convulsive episodes, poor sucking ability, neurodevelopmental delay. Physical examination revealed some dysmorphic features. Molecular analysis identified a de novo, heterozygous variant in (NM_005859.5): c.692T>C; p.Phe231Ser, which was classified as pathogenic.

CONCLUSION

In this report, we present a Colombian case of PURA syndrome. This case highlights the challenges associated with the early diagnosis of a newly described syndrome, in a limited-resources health system.