Patient/Sex | Onset age | Dx age | GA/BW | Seizures and onset | Macular cherry red spot | Enlarged liver and spleen | Macrocephaly/ Other findings | Brain imaging | Age at death |
---|---|---|---|---|---|---|---|---|---|
1/Ma | 6 mo | 17 mo | term/NA | GTC, MCS aggravated by loud noise at 15 mo | yes | no | no/ MVP spasticity, hyperreflexia | Cranial ultrasound: normal at 10 mo | 2 yo |
2/Mb | 8 mo | 25 mo | NA/NA | MCS aggravated by loud noise at 8 mo | yes | no | no/ spasticity, hyperreflexia | MRI: hypomyelination, hyperintensity of bilateral thalamus | 4 yo |
3/F | 5 mo | 16 mo | 36 wk./ 2360 g | GTC at 12 mo | yes | mild hepato megaly | yes/ NA | MRI: symmetrical homogeneous increased density of bilateral thalamus with subcortical white matter change of bilateral frontal and temporal lobes, mild brain atrophy | 2 yo |
4/M | 6 mo | 16 mo | 36 wk./ 2560 g | not yet developed at 16 mo | yes | no | no/ axial hypotonia, hyperreflexia | MRI: diffuse hyper T2 signals at bilateral cerebral white matter, and hypo signal intensity of bilateral thalami; thinning of corpus callosum and cerebellar peduncles | 6 yo |
5/F | 8 mo | 34 mo | Term/ 3400 g | MCS at 10 mo | yes | no | yes/ axial hypotonia, hyperreflexia | MRI: mild atrophic change of bilateral temporal lobes, mild prominent third ventricle and bilateral lateral ventricles | 4 yo |