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A 7-year-old girl with MEGD(H)EL [3-methylglutaconic aciduria, dystonia-deafness, (hepatopathy), encephalopathy, Leigh-like syndrome, SERAC1]1 presented with worsening respiratory compromise. The evaluation showed type II respiratory failure (e.g., hypercapnic) necessitating mechanical ventilation.… Click to show full abstract
A 7-year-old girl with MEGD(H)EL [3-methylglutaconic aciduria, dystonia-deafness, (hepatopathy), encephalopathy, Leigh-like syndrome, SERAC1]1 presented with worsening respiratory compromise. The evaluation showed type II respiratory failure (e.g., hypercapnic) necessitating mechanical ventilation. Cerebral MRI demonstrated progression of known changes in MEGD(H)EL (Figure, A and B) and symmetric nucleus tractus solitarius (NTS) involvement (Figure, C and D). She was ventilator dependent and subsequently died from the effect of the disease.
Journal Title: Neurology
Year Published: 2022
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