Work

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

Year: 2025

Type: article

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.

Source: Cureus

DOI: 10.7759/cureus.97867

Authors: Brianna Stein, Rylee Simons, Hanna Sahhar, Sami Rishmawi, Anna Kate Shaw

Institutions: University of Connecticut, Spartanburg Regional Medical Center, Spartanburg Regional Healthcare System, Clemson University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4416701711