Zellweger Syndrome in a Neonate: Early Clinical Presentation and Diagnostic Challenges

Abstract Background Zellweger spectrum disease includes Zellweger syndrome (ZS), a rare autosomal recessive peroxisomal biogenesis condition brought on by mutations in PEX genes. Neurological problems, craniofacial dysmorphism, hepatic failure, renal cysts, and developmental delay are among the multisystem involvement that characterise it. The condition is seldom linked to gastrointestinal abnormalities such jejunal atresia. Due to overlapping clinical characteristics with other newborn disorders, early identification is still difficult. Case presentation : A male newborn who was two months old showed signs of generalised hypotonia, lethargy, and poor eating. There were no notable prenatal or perinatal problems, and the baby was delivered at term with normal APGAR (Appearance, pulse, grimace, activity and respiration) ratings. The newborn experienced delayed meconium passage, bilious vomiting, feeding intolerance, and abdominal distension at 48 hours of life. The resection of the dilated bowel segment as well as primary jejunojejunostomy were used to treat Type IIIb jejunal atresia (apple-peel deformity), which was verified by exploratory laparotomy. Feeding and bowel function improved during the uncomplicated postoperative recovery. Further testing was necessary due to persistent hypotonia & dysmorphic facial traits, such as hypertelorism, a sunken nasal bridge, a large forehead, and low-set ears. Hepatomegaly and bilateral renal cortical cysts were seen on ultrasonography. Brain magnetic resonance imaging showed caudothalamic germinolytic cysts, perisylvian polymicrogyria, and bilateral frontoparietal pachygyria. The diagnosis of Zellweger syndrome was confirmed by genetic investigation that revealed pathogenic mutations in the PEX1 gene and metabolic evaluation that revealed high blood very long-chain fatty acids. Genetic counselling and multidisciplinary supportive care were started. Conclusion This instance emphasises how crucial it is to take underlying genetic and metabolic problems into account when newborns exhibit congenital gastrointestinal abnormalities and multisystem involvement. Accurate diagnosis, supportive care, prognosis evaluation, and genetic counselling all depend on early detection and interdisciplinary assessment.