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Case Reports
. 2021 Sep 6;13(9):e17761.
doi: 10.7759/cureus.17761. eCollection 2021 Sep.

MEGDEL Syndrome and Its Anesthetic Implications

Balazs Horvath  1 , Kathleen M Pfister  2 , Alexis Rupp  3 , Benjamin Kloesel  1
Affiliations
Case Reports

MEGDEL Syndrome and Its Anesthetic Implications

Balazs Horvath et al. Cureus. .

Abstract

MEGDEL syndrome gains its name for its following features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), Leigh-like syndrome (L). This syndrome is caused by biallelic mutations in the serine active site-containing protein 1 (SERAC1 ) gene. When these patients present with hepatopathy (H) in addition to the above manifestations the syndrome is labeled as MEGD(H)EL. The pathology of the disease shares features with different types of inborn errors of metabolism. We present the anesthetic management of a neonate who was diagnosed with MEGD(H)EL syndrome and underwent diagnostic magnetic resonance imaging of the brain at 14 days of postnatal age. We describe the epidemiology and important features of this rare disease that are pertinent for the anesthesiologist.

Keywords: aciduria; megd(h)el; megdel; mitochondrial disease; pediatric anesthesia; phospholipid metabolism.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Magnetic Resonance Spectroscopy
(A) - Magnetic resonance spectroscopy using intermediate (135 ms) time to echo (TE) sequence. Lactate signal is shown from cubic regions (small box) as an inverted peak at 1.33 ppm. The X-axis depicts the metabolite frequency in ppm according to chemical shift, and Y-axis shows the arbitrary peak amplitude. (B), (C) and (D) - Magnetic resonance imaging in the axial, coronal and sagittal cuts, respectively. Cho = Choline, Cr = Creatinine, Cr2 = Creatinine (second peak), NAA = N-Acetyl Aspartate, ppm = parts per million.
See this image and copyright information in PMC

References

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