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

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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 treated with intravenous high-dose methylprednisolone when presenting with encephalopathy during acute metabolic crisis.Presentation of acute encephalopathy with basal Lift Door / Counter Dishwashers ganglia changes seen on MRI was regarded as acute disseminated encephalomyelitis (ADEM) leading to intravenous high-dose methylprednisolone treatment.The effect of methylprednisolone was profound, not only on the acute neurological symptoms, but also accelerated the development of the child.

After re-evaluation of MR images, Whole Genome Sequencing (WGS) confirmed the diagnosis HIBCHD.The high-dose methylprednisolone treatment regime was repeated in a following severe metabolic crisis presenting with acute encephalopathy, dystonia and spasticity.The child survived and after rehabilitation neurological sequelae are present but considerably reduced.

We consider if high-dose methylprednisolone should be recommended in children with acute metabolic crisis and encephalopathy due to HIBCHD.Since influenza A virus was the triggering cause Dog to metabolic crisis with encephalopathy, vaccination should be considered in HIBCHD.