| Autor: |
Ognean ML; Faculty of Medicine, Lucian Blaga University, 550025 Sibiu, Romania.; Neonatology Department, Clinical County Emergency Hospital, 550245 Sibiu, Romania., Mutică IB; Neonatology Department, Clinical County Emergency Hospital, 550245 Sibiu, Romania., Vișa GA; Research and Telemedicine Center in Pediatric Neurology, Pediatric Clinical Hospital Sibiu, 550169 Sibiu, Romania., Șofariu CR; Research and Telemedicine Center in Pediatric Neurology, Pediatric Clinical Hospital Sibiu, 550169 Sibiu, Romania.; Pediatric Clinical Hospital Sibiu, 550169 Sibiu, Romania., Matei C; Faculty of Medicine, Lucian Blaga University, 550025 Sibiu, Romania., Neamțu B; Faculty of Medicine, Lucian Blaga University, 550025 Sibiu, Romania.; Research and Telemedicine Center in Pediatric Neurology, Pediatric Clinical Hospital Sibiu, 550169 Sibiu, Romania.; Department of Computer Science and Electrical Engineering, Faculty of Engineering, Lucian Blaga University Sibiu, 550025 Sibiu, Romania., Cucerea M; Department of Neonatology, George Emil Palade University of Medicine, Pharmacy, Science, and Technology, 540142 Targu Mures, Romania., Galiș R; Department of Neonatology, Clinical County Emergency Hospital Bihor, 410167 Oradea, Romania.; Department of Neonatology, Poznan University Medical Sciences, 60-512 Poznan, Poland., Cocișiu GA; Medical Laboratory, Military Emergency Hospital, 550024 Sibiu, Romania., Mătăcuță-Bogdan IO; Faculty of Medicine, Lucian Blaga University, 550025 Sibiu, Romania.; Pediatric Clinical Hospital Sibiu, 550169 Sibiu, Romania. |
| Abstrakt: |
D-bifunctional protein deficiency (D-BPD) is a rare, autosomal recessive peroxisomal disorder that affects the breakdown of long-chain fatty acids. Patients with D-BPD typically present during the neonatal period with hypotonia, seizures, and facial dysmorphism, followed by severe developmental delay and early mortality. While some patients have survived past two years of age, the detectable enzyme activity in these rare cases was likely a contributing factor. We report a D-BPD case and comment on challenges faced in diagnosis based on a narrative literature review. An overview of Romania's first patient diagnosed with D-BPD is provided, including clinical presentation, imaging, biochemical, molecular data, and clinical course. Establishing a diagnosis can be challenging, as the clinical picture is often incomplete or similar to many other conditions. Our patient was diagnosed with type I D-BPD based on whole-exome sequencing (WES) results revealing a pathogenic frameshift variant of the HSD17B4 gene, c788del , p(Pro263GInfs*2) , previously identified in another D-BPD patient. WES also identified a variant of the SUOX gene with unclear significance. We advocate for using molecular diagnosis in critically ill newborns and infants to improve care, reduce healthcare costs, and allow for familial counseling. |
