PMC6388456_01
Electroencephalography (EEG) in one of the twins recorded at 4 months of age showing (A) an ictal electrodecremental response associated with an epileptic spasm clinically characterized by internal rotation and tonic posturing of the arms. Note that the severe slowing of the background EEG which is also disorganized and discontinuous. Bursts of generalized slowing followed by background attenuation with overriding fast activity often did not correlate with spasms as seen here. Vertical line = 400 microV, horizontal line (second) = 1 second.
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At 5 months of age, the patients went on to develop clear epileptic spasms associated with ictal electrodecremental responses and hypsarrhythmia on the EEG (Figures 1 and 2).
Electroencephalography (EEG) recorded at 5 months shows (A) right temporal onset focal seizure clinically characterized by elevation of the arms. Note the background EEG shows significant improvement following treatment with the ketogenic diet and vigabatrin. B, However, the severe developmental epileptic encephalopathy pattern characterized by multifocal spikes recorded on a disorganized background <200 microV persisted for significant portions of the EEG. Vertical line = 100 microV, horizontal line = 1 second.
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At 5 months of age, the patients went on to develop clear epileptic spasms associated with ictal electrodecremental responses and hypsarrhythmia on the EEG (Figures 1 and 2).
Brain magnetic resonance imaging (MRI) of twin A. MRI at age 19 days (corrected age of 39 weeks 3 days of gestation) including axial T1- and T2-weighted images (A, B) and magnetic resonance (MR) spectrum obtained from left basal ganglia with TE of 135 ms (C). Absence of myelination of the posterior limb of internal capsules is evident on both the T1- and T2-weighted images shown here, while absence of expected myelination at other locations of brain is also observed (not shown). Proton MR spectrum (C) revealed mildly decreased N-acetylaspartate (NAA) peak. On MRI at age 4 months (D-I), the T1- and T2-weighted images (D, E) again revealed absence of myelination of internal capsules, splenium of corpus callosum, and optic radiations, which are all expected to be myelinated at this age. Proton MR spectrum (F) revealed persisted decreased NAA peak, as well as a lactate doublet (arrow, F). On diffusion-weighted image (G, b = 1000) and apparent diffusion coefficient map (H), restricted diffusion is evident in bilateral corticospinal tracts (arrowheads, G and H). Abnormal hypointense T1 and hyperintense T2 signals are also seen in subcortical white matter (D, E, I). In addition, mildly enlarged lateral and third ventricles and mildly widened cerebral sulci have developed at 4 months of age (D, E, I), which was not present on the MRI at age 19 days (A, B). In the clinical setting of microcephaly, the development suggests cerebral atrophy.
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Brain MRIs, at that time, showed hypomyelination and a lactate doublet in both twins (Figures 3 and 4) and magnetic resonance spectroscopy showing decreased brain N-acetylaspartic acid levels (Figures 3 and 4).
Brain magnetic resonance imaging (MRI) of twin B. Magnetic resonance imaging at age 19 days (corrected age of 39 weeks 3 days of gestation) including axial T1- and T2-weighted images (A, B) and magnetic resonance (MR) spectrum obtained from left basal ganglia with TE of 135 ms (C). The MRI findings are nearly identical to those of twin A (Figure 1). Absence of myelination of the posterior limb of internal capsules is evident on both the T1- and T2-weighted images shown here. Proton MR spectrum (C) revealed mildly decreased N-acetylaspartate (NAA) peak.
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Brain MRIs, at that time, showed hypomyelination and a lactate doublet in both twins (Figures 3 and 4) and magnetic resonance spectroscopy showing decreased brain N-acetylaspartic acid levels (Figures 3 and 4).