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What is A 6-day old neonate presented to NICU with respiratory depression, poor feeding and persistent occurrence of seizures. The child was born at 39 weeks gestation by spontaneous vaginal delivery to healthy parents O/E: - High forehead with unslanting palpebral fissures Hypoplastic supraorbital ridges Epicanthal folds. Depressed nasal bridge with long philtrum Hearing loss Liver dysfunction, polycystic kidneys and patent ductus aeriosus were also present MRI of the brain. Which of the following entity will be found to be increased in the serum of the baby: - and explain in detail?
This is a case of Zellweger syndrome (cerebrohepatorenal syndrome) Mutations in peroxisome biogenesis factor (PEX) gene. Peroxisome is involved in oxidative catabolism of VLCFAs Increase of very long chain fatty acids. 1st MRI image shows pachygyria (there are few gyri which are broad and flat) of frontal and parietal lobes. (black arrow) 2nd MRI image shows right parietal pachygyria (black arrow). Present with hypotonia, seizures, liver dysfunction, distinctive facies, polycystic kidneys. OTHER DISORDERS: - Phytanic acid is elevated in neonatal leukodystrophy. Pristanic acid is elevated in infantile refsum disease. Pipecolic acid is elevated in infantile refsum disease.