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