Hypoglycemic Encephalopathy With Multisystem Organ Dysfunction in an Infant With MEGD(H)EL Syndrome

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.