Journal of Inborn Errors of Metabolism and Screening
|
Short Communication Casuistic Use of High-Dose Methylprednisolone in a Child with Acute Encephalopathy due to Metabolic Crisis in HIBCH Deficiency Nissen, Ida Bo Christensen, Johnny Kent Lund, Allan Meldgaard Sorensen, Line Caroe Abstract in English: 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 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 to metabolic crisis with encephalopathy, vaccination should be considered in HIBCHD. |
|
Short Communication DNA Methylation Analysis and Phenotype Severity in Fabry Disease Iza, S.N. Lagos, S.Y. Ospina Yunis, J.J. Abstract in English: Abstract Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism characterized by progressive lysosomal deposition of partially metabolized substrates within various tissues. This condition results in significant morbidity and mortality for both men and women. However, the severity and progression of the disease differ by sex due to potential factors that modulate the phenotype in women, such as X chromosome inactivation. In this study, we conducted methylation assays on peripheral blood samples from seven women diagnosed with FD and examined the correlation between these assays and the clinical severity of the disease. The results showed no correlation, underscoring the importance of selecting appropriate tissues for analysis. |