ArticleCureus2025
Hypoglycemic Encephalopathy With Multisystem Organ Dysfunction in an Infant With MEGD(H)EL Syndrome.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors.
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Abstract
This report describes a case of an eight-month-old pediatric patient with 3-methylglutaconic aciduria with deafness-dystonia, hepatopathy, encephalopathy, and Leigh-like syndrome (MEGD(H)EL) syndrome, who initially presented to the emergency room with unresponsiveness and profound hypoglycemia. Laboratory investigations revealed metabolic acidosis, elevated liver function tests, prolonged bleeding times with elevated D-dimer, and a respiratory panel showing human enterovirus/rhinovirus. CSF was positive for human herpesvirus 6. MRI of the brain without contrast revealed relatively bilateral and symmetric diffusion restriction involving the caudate heads, globus pallidi, thalami, ventral cerebral peduncles, and hippocampi. The patient, upon later evaluation, was diagnosed with MEGD(H)EL syndrome. This case highlights the rare syndrome and its unique presentation.
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