Neonatology · 2025
Congenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing - A Case Report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Kajikawa Daigo, Miura-Fuchino Rena, Hinata Ayako, Hoshino Yusuke, Yukitake Yoshiya, Arai Junichi, Imagawa Kazuo, Suzuki Hisato, Kosaki Kenjiro, Takenouchi Toshiki
Аннотация
INTRODUCTION: Congenital erythropoietic porphyria (CEP), especially neonatal-onset CEP, is a rare autosomal recessive disorder with an estimated incidence of one in one million. It is caused by UROS gene variants and may mimic severe systemic conditions, delaying diagnosis.
CASE PRESENTATION: We report a male neonate born with asphyxia, hepatosplenomegaly, cytopenia, and multiorgan dysfunction, initially suspected to have familial hemophagocytic lymphohistiocytosis. Targeted panels for familial hemophagocytic lymphohistiocytosis and autoinflammatory disorders were negative. Red urine and photosensitive blistering lesions were observed. Rapid trio whole genome sequencing identified a homozygous NM_000375.3 (UROS):c.562G>T (p.Gly188Trp) variant previously reported only in compound heterozygous patients and classified as pathogenic in ClinVar (RCV000003959). Subsequent biochemical testing confirmed markedly elevated porphyrin levels, establishing a diagnosis of CEP.
CONCLUSION: This case highlights the diagnostic challenges of neonatal CEP, where systemic illness may obscure the classical signs. This underscores the value of a genomics-first approach in critically ill neonates.
CASE PRESENTATION: We report a male neonate born with asphyxia, hepatosplenomegaly, cytopenia, and multiorgan dysfunction, initially suspected to have familial hemophagocytic lymphohistiocytosis. Targeted panels for familial hemophagocytic lymphohistiocytosis and autoinflammatory disorders were negative. Red urine and photosensitive blistering lesions were observed. Rapid trio whole genome sequencing identified a homozygous NM_000375.3 (UROS):c.562G>T (p.Gly188Trp) variant previously reported only in compound heterozygous patients and classified as pathogenic in ClinVar (RCV000003959). Subsequent biochemical testing confirmed markedly elevated porphyrin levels, establishing a diagnosis of CEP.
CONCLUSION: This case highlights the diagnostic challenges of neonatal CEP, where systemic illness may obscure the classical signs. This underscores the value of a genomics-first approach in critically ill neonates.