Infant Presenting With Developmental Regression and Infantile Spasms Diagnosed as Zellweger Spectrum Disorder

Abstract

Among the Zellweger spectrum disorders of peroxisomal biogenesis, Zellweger syndrome (ZS) is the most severe of identified disorders in this spectrum. Clinical features include facial dysmorphism, neuronal migration defects, failure to thrive, and hearing and visual impairment. Intracellular accumulation of very-long-chain fatty acid (VLCFA) damages developing organs (eg, liver, bone, kidneys, brain).It is diagnosed by estimating VLFCA and plasmalogen levels and genetic testing modalities. Mutations in the PEX group of genes are seen. The current case report highlights a case of ZS where the patient was thriving at 7 months with developmental delay, hypotonia, deafness, and seizures. The patient had chronic diarrhea and infantile spasms which are rarely described in peroxisomal biogenesis disorders. We report this child to highlight the diagnostic algorithmic approach of peroxisomal disorder.