Term. Clinical examination at birth | Treatment during the first month | EEG evolution (age) | Brain MRI (age) | |
---|---|---|---|---|
Patient 1 | Full term. Hypotonia. No eye contact. BW: 3000 g HC: 35 cm | PHB VGB | 1 m: Continuous with rare posterior spikes and fast rhythms | Day 7: Normal, absence of any signal abnormality. 2 y: Discrete global brain atrophy, thin corpus callosum |
6 m: slow background, rare focal spikes. | ||||
Patient 2 | 34 GW Fetal distress, apnea, movements disorder BW: 2,040 g HC: 30 cm | MDZ, PHB, B6, TPM, VGB | 0-7 m: Suppression-burst >7 m: Hypsarythmia | D13: absence of any signal abnormality. 3 m: Absence of signal abnormality |
Patient 3 | Full term Failure. to thrive. Feeding difficulties BW: 3,770 g HC: 37.5 cm | PHB, B6, PHT, VGB, TPM, CLB. | 1-6 w: Asynchronous SB. 2-8 m: bilateral Bursts of central spikes 1-6 y: Bursts of rhythmic generalized spikes at 3 Hz | Day 3: T1 bilateral hypersignal of pallida, tegmentum, locus niger, hippocampi. Abnormal ADC in these regions. 2 y: T1 hypersignal of the same structures and diffuse T1 hypersignal of the white matter. Brain atrophy |
Patient 4 | Full term. Normal BW: 3,580 g HC: 37 cm | PHB, PHT, VPA | 0-2 m: Suppression-burst. 2–12 m: hypsarythmia. >12 m: Frequent multifocal spikes | Day 7: Normal CT scan 2 y: Thin Corpus Callosum, absence of signal abnormality |
Patient 5 | Full term. Normal BW: 3,240 g HC: 34 cm | PHB, PHT, B6, VGB, VPA | 0-2 m: Suppression-burst. 2–6 m: continuous, slow background, multifocal spikes. >6 m: Rare spikes in temporal and occipital lobes | Day 10: no signal abnormality. |
Patient 6 | Full term. Normal BW: 2,790 g HC: 34,5 cm | ND | 0-1 m: Suppression-burst. <1 m: Multifocal spikes, slow background | 1 m: Normal |
Patient 7 | Full term. Normal BW: 3,180 g, HC: 36 cm | PHB, B6, PHT | 0-1 m: Suppression-burst. 1–7 m: Continuous EEG, multifocal spikes 7–24 m: Hypsarythmic pattern. >24 m: Frequent spikes and spike wave in frontal regions | Day 4: Normal, absence of any signal abnormality |
Patient 8 | ND | PHB, PHT | 0-2 m: Bursts of multifocal spikes, periods of flatness. >2 m: Multifocal spikes, poor organization | 1 y: No structural or signal abnormality. |
Patient 9 | At term. Hypotonia. No eye contact. BW: 3,450 g HC: 35 cm | PB, CZP, VGB | 0-2 m: Suppression-burst 2–6 m: Slow background, rare generalized spike waves. 6–12 m: Hypsarythmic pattern. >12 m: Rare asynchronous frontal and temporal spikes | Day 10: Normal, absence of any signal abnormality |
Patient 10 | Full term. No eye contact BW: 3,120 g HC: 33 cm | PB, PHT, TPM, VGB, B6, | 0-2 m: discontinuous EEG. >2 m: continuous, slow EEG with rare generalized spikes | Day 5: T1: symmetrical hypersignal of the pallida, caudate nuclei and hippocampi T2: bilateral hypersignal of the parietal occipital white matter |
Patient 11 | Full term. Hypotonia, hyporeactivity, failure to feed | PHB, PHT, VPA. | 0-1 m: Left or right spikes on a moderately abnormal background. >1 m: Occipital or temporal spikes with left prominence with progressive migration on the central temporal region | 1 m: normal |
Patient 12 | Full term. Normal BW and HC | VGB, CBZ | 0-2 m: Suppression-burst. 2–6 m: General slowing of the traces, no spike. 6 m-2 y: Rare spikes in the right central region, Normal background. >2 y: normal traces. | Day 7: T2 hyperintensity of the basal ganglia 2 y: Normal 3y: Normal |
Patient 13 | Full term. Fetal distress. BW, HC: ND | ND | ND | 1 m: No structural abormality, no signal change |
Patient 14 | Full term. BW 3,750 g. Poor eye contact, trunk hypotonia with bouts of hypertonia | PHB, VGB, CBZ; | 0-4 m: Asymmetrical suppression-burst 4-10 m: Left occipital spikes and slow waves 10 m-3 y: Normal background activity + posterior theta waves, No spike 3 y: Intermittent slow background, no spike >8 y: Normal | 3 m: Normal |
Patient 15 | Oligoamnios Born at 30 Weeks (GA) BW: 1580 g HC: 29 cm | PHB, VPA | 0-1 m: Suppression-burst >1 m: continuous traces (normal) | 2 y: normal |
Patient 16 | Full term Global hypotonia, weak cry | CLN, PHT | 0-1 m: absence of physiologic features, slow waves, spikes, brief flattening. 1–6 m: improvement of background activity, some generalized flattening episodes, left occipital slow waves. 6 m – 6 y: slow. background activity, rare spikes. 27 y: bilateral temporal slow waves. 30 y: normal background activity, bilateral fronto-temporal bursts of slow waves, photic stimulation-evoked slow spikes | 17 y: slight T2 and FLAIR hyperintensity of thalami. |