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 h...

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Bibliographic Details
Main Authors: Ida Bo Nissen, Johnny Kent Christensen, Allan Meldgaard Lund, Line Caroe Sorensen
Format: Article
Language:English
Published: SciELO 2025-02-01
Series:Journal of Inborn Errors of Metabolism and Screening
Subjects:
Child
Encephalopathy
Metabolic disease
Metabolic crisis
Leigh syndrome
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942025000100501&lng=en&tlng=en
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