PMC9530620_01
(
a-
f) EEG recordings.
(EEG displayed at sensitivity 70muV/cm, time-base 15mm/sec. aEEG displayed at 6cm/sec). (
a) Case One: Electrographic seizure at 59 hrs of life consisting of generalised sharp and slow wave complexes with clear aEEG correlate (*). Sleep-wake cycling poorly defined at the beginning of the recording but improves over time as demonstrated on the aEEG (**). (
b) Case One: Dysynchrony in Quiet Sleep at 61hrs of life. (
c) Case One: Prolonged discontinuity in Quiet Sleep at 61 hrs of life. (
d) Case Two: cEEG at 56 hrs of life showing prolonged suppression in Quiet Sleep. High amplitude activity with multifocal sharp waves. (
e) Case Two: Myoclonic jerk (during Quiet sleep at 35 hours of life showing high amplitude movement activity followed by brief suppression. (
f) Case Two: Active Sleep showing continuous activity but excessively low frequencies on the background pattern for gestational age at 37 hours of life (example highlighted).
hrbopenres-5-14716-g0000.jpg
PMC9530620_02_hrbopenres-5-14716-g0000.jpg
f1
Figure 1d). Frequent myoclonic jerks were associated with bursts of high amplitude movement activity on EEG but no clear seizures in quiet sleep ( Figure 1e). EEG was continuous but with excess delta activity for gestational age ( Figure 1f). EEG was recorded in two prolonged periods for eight of the subsequent 12 days with little improvement of the background pattern.
(
a-
f)- Brain MRI. Case One: (
a) Thinning of the body of the corpus callosum. The rostrum and splenium appear blunted, likely representing partial dysgenesis, (
b) Bilateral polymicrogyria in the posterosuperior aspects of the sylvian fissures, (
c) Marked restriction within the periventricular regions bilaterally - involving the heterotopic grey matter. Case Two: (
d) Sagital T1 View: Partial agenesis of Corpus Callosum posteriorl, (
e) Coronal T2 View: Mild bilateral perisylvian microgyria, (
f) Axial T2 View: Bilateral Cystic dilatation of vestibules.
hrbopenres-5-14716-g0001.jpg
PMC9530620_02_hrbopenres-5-14716-g0001.jpg
f2
Brain on day five showed partial agenesis of corpus callosum posteriorly ( Figure 2d) along with mild perisylvian polymicrogyria bilaterally ( Figure 2e). Bilateral vestibular dilatation was noted in the internal auditory meatus ( Figure 2f), previously described in relation to Connexin gene mutations.
PMC9530620_02
(
a-
f) EEG recordings.
(EEG displayed at sensitivity 70muV/cm, time-base 15mm/sec. aEEG displayed at 6cm/sec). (
a) Case One: Electrographic seizure at 59 hrs of life consisting of generalised sharp and slow wave complexes with clear aEEG correlate (*). Sleep-wake cycling poorly defined at the beginning of the recording but improves over time as demonstrated on the aEEG (**). (
b) Case One: Dysynchrony in Quiet Sleep at 61hrs of life. (
c) Case One: Prolonged discontinuity in Quiet Sleep at 61 hrs of life. (
d) Case Two: cEEG at 56 hrs of life showing prolonged suppression in Quiet Sleep. High amplitude activity with multifocal sharp waves. (
e) Case Two: Myoclonic jerk (during Quiet sleep at 35 hours of life showing high amplitude movement activity followed by brief suppression. (
f) Case Two: Active Sleep showing continuous activity but excessively low frequencies on the background pattern for gestational age at 37 hours of life (example highlighted).
hrbopenres-5-14716-g0000.jpg
PMC9530620_02_hrbopenres-5-14716-g0000.jpg
f1
Figure 1d). Frequent myoclonic jerks were associated with bursts of high amplitude movement activity on EEG but no clear seizures in quiet sleep ( Figure 1e). EEG was continuous but with excess delta activity for gestational age ( Figure 1f). EEG was recorded in two prolonged periods for eight of the subsequent 12 days with little improvement of the background pattern.
(
a-
f)- Brain MRI. Case One: (
a) Thinning of the body of the corpus callosum. The rostrum and splenium appear blunted, likely representing partial dysgenesis, (
b) Bilateral polymicrogyria in the posterosuperior aspects of the sylvian fissures, (
c) Marked restriction within the periventricular regions bilaterally - involving the heterotopic grey matter. Case Two: (
d) Sagital T1 View: Partial agenesis of Corpus Callosum posteriorl, (
e) Coronal T2 View: Mild bilateral perisylvian microgyria, (
f) Axial T2 View: Bilateral Cystic dilatation of vestibules.
hrbopenres-5-14716-g0001.jpg
PMC9530620_02_hrbopenres-5-14716-g0001.jpg
f2
Brain on day five showed partial agenesis of corpus callosum posteriorly ( Figure 2d) along with mild perisylvian polymicrogyria bilaterally ( Figure 2e). Bilateral vestibular dilatation was noted in the internal auditory meatus ( Figure 2f), previously described in relation to Connexin gene mutations.