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Long chain fatty acid oxidation defects shows itself with a wide range of clinical symptomsand signs. Here, we report a case of delayed diagnosis and treatment.Four-month-old boy was attended to pediatric emergency unnit with difficulty in breathingand cough lasts for atleast a week. He was lethargic and hypotonic, had circulatorydecompansation, tachycardia and hepatomegaly. Dilated cardiomyopathy was detected onechocardiography. Findings of decompensated heart failure, hypoglycemia, deep lacticacidosis were present. Detailed family history revealed HELLP Syndrome developed inmother during pregnancy. No further investigation was done after then Tandem MS analysisshowed high acylcarnitines and low free carnitine levels. He got the diagnosis of long chainfatty acid oxidation defect and we started carnitine and vitamin cocktail treatment withglucose support to prevent catabolic process. Fat intake was restricted. Ursodeoxycholic acidand N-acetyl cysteine were added to treatment because of cholestasis. As refractory acidosisstarted peritoneal dialysis was applied. Despite all treatments, he was died on the 7th day offollow-up. The homozygous mutation detected in the DNA sequence analysis supported thediagnosis of long-chain 3-OH acyl-CoA dehydrogenase deficiency.Early diagnosis of neurometabolic diseases is very important in terms of prevention andreduction of mortality and morbidity. This case was presented to emphasize that infants of themothers who develop HELLP Syndrome in pregnancy should be evaluated in terms of fattyacid oxidation defect in the early period.

HELLP