A Peroxisomal disorder with uncommon characteristics resembling epileptic encephalopathy
Keywords:
Epileptic encephalopathy, Genotype, Peroxismal disorderAbstract
Background: D-bifunctional protein (DBP) deficiency is a rare peroxisomal disorder related to fatty acid oxidation, characterized by autosomal recessive inheritance due to mutations in the HSD17B4 gene. This condition encompasses a broad spectrum of diseases, including Zellweger syndrome, an adrenoleukodystrophy-like phenotype, as well as manifestations such as ovarian dysgenesis or neurodegenerative patterns.
Case Report: We report a case of a four-year-old girl, born to consanguineous parents with one sibling death, who presented with early-onset neonatal refractory seizures, mild facial dysmorphism, global developmental delay, profound hypotonia, pigmentary retinopathy, and ovarian dysgenesis, with a normal metabolic profile. Whole exome sequencing revealed a mutation in the HSD17B4 gene, consistent with D-bifunctional protein deficiency.
Conclusion: This case highlights the clinical variability of D-bifunctional protein deficiency and underscores the importance of genetic testing for accurate diagnosis, particularly in patients with a consanguineous background and complex presentations that mimic epileptic encephalopathies.
Keywords: D-Bifunctional Protein Deficiency, Epileptic Encephalopathy, Peroxisomal disorder.
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Copyright (c) 2024 Muhammad Zia Ur Rehman, Osama Haroon Babri, Tipu Sultan, Javeria Raza Alvi (Author)
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