ZELLWEGER SYNDROME: A PEDIATRIC CASE AND LITERATURE REVIEW

Introduction: Zellweger syndrome is a rare, autosomal recessive disorder of peroxisome biogenesis and represents the most severe end of the peroxisome biogenesis disorder (PBD) spectrum. Classically, it presents from the neonatal period with facial dysmorphism, profound hypotonia, and severe multi-organ involvement, and is generally fatal within the first year of life. Case presentation: We report a 7-month-old infant born to consanguineous parents who exhibited major axial hypotonia from birth and neonatal seizures. Clinical examination revealed macrocephaly and characteristic facial dysmorphism (high forehead, wide anterior fontanelle, bulbous nose, high-arched palate, micrognathia, etc.), nystagmus, and absent visual tracking. Brain MRI showed hypoplasia of the corpus callosum. Skeletal radiographs demonstrated irregular epiphyseal ossification centers suggestive of chondrodysplasia punctata. Plasma very-long-chain fatty acids (VLCFA) were elevated, confirming the diagnosis of Zellweger syndrome. Conclusion: Also termed the cerebro-hepato-renal syndrome, Zellweger syndrome should be considered in any neonate with severe hypotonia, dysmorphic features, and early neurologic impairment, particularly in the setting of consanguinity. Diagnosis is confirmed by peroxisomal metabolite profiling (VLCFA, phytanic/pristanic acids, etc.), enabling appropriate genetic counseling. No curative therapy is currently available; management is supportive and prognosis is most often fatal before one year of age, underscoring the importance of prenatal diagnosis for future at-risk pregnancies.