CASUISTIC USE OF HIGH-DOSE METHYLPREDNISOLONE IN A CHILD WITH ACUTE ENCEPHALOPATHY DUE TO METABOLIC CRISIS IN HIBCH DEFICIENCY

Casuistic Use of High-Dose Methylprednisolone in a Child with Acute Encephalopathy due to Metabolic Crisis in HIBCH Deficiency

Abstract 3-hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) is a rare metabolic disease.Early symptoms include poor feeding, seizures, hypotonia and impaired psychomotor development.Acute metabolic crisis can cause encephalopathy with high risk of neurological sequelae or death.Casuistic, we here report a nine-year old Danish girl with HIBCHD tr

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