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A 7-year-old girl with MEGD(H)EL[3-methylpentenediouria, dystonia-deafness, (liver disease), encephalopathy, Leigh-like syndrome, SERAC1] presents with worsening respiratory compromise
.
Evaluation reveals type II respiratory failure requiring mechanical ventilation (e.
g.
, hypercapnia).
Brain MRI showed progression of known changes in MEGD(H)EL (Panels A-B) and symmetric solitary nucleus (NTS) involvement (Panels C-D).
The child was on a ventilator and subsequently died
due to the effects of the disease.
Bilateral NTS involvement is
rare.
NTS plays a vital role
in the continuous regulation of chemoreceptor-mediated respiration and other respiratory reflexes.
This case illustrates the neuroimaging relevance
of CNS-induced respiratory failure.
(Figure: Brain MRI at 2 years old shows typical "putaminal eye" sign [A, arrow]; MRI at 7 years of age showed progressive basal ganglia and glial hyperplasia and cortical atrophy [B], and bilateral symmetric signal changes in solitary bundle nuclei were seen on fluid decay reversal recovery sequences [C, arrow] and T2WI [D, arrow]
