Background: Peroxisomal acyl CoA oxidase deficiency is a very rare neurodegenerative disorder characterised by postnatal hypotonia, seizures, and neurological regression in early infancy.
Case Presentation: Here, we present a case of two children in a family affected with peroxisomal acyl CoA oxidase deficiency. Early onset of hypotonia, seizures, and psychomotor delay was observed in both the sibs. Plasma levels of very long chain fatty acids showed normal levels of phytanic acid, pristanic acid, C22, C24, C26, C26/C22, and C24/C22 ratios. Here, we describe a case where women in her second trimester and with two affected siblings with peroxisomal acyl CoA oxidase deficiency was referred to institute for genetic counselling.
Conclusion: Clinical exome analysis of the couple, two affected sibs and the fetus adds new insight into the clinical, neuroradiological, and molecular aspects of this disorder that represents one of the rarer inherited defects of peroxisomal function.
Key words: Peroxisomal Acyl coA Oxidase deficiency; Neurological Regression; Fatty Acids, Genotype phenotype correlation
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