Table 1.
Serial number | Gender | Age | Child's age | Child's sex | Child's diagnosis |
---|---|---|---|---|---|
1 | Female | 42 | 17 | Female | Alexander disease |
2 | Female | 52 | 15 | Female | Sialic acid storage disease |
22 | Female | Sialic acid storage disease | |||
3 | Female | 38 | 5 | Male | Aicardi-Goutières syndrome |
4 | Male | 39 | |||
5 | Male | 56 | 23 | Female | Aicardi-Goutières syndrome |
6 | Female | 54 | |||
7 | Female | 38 | 6 | Male | X-Linked Adrenoleukodystrophy |
8 | Female | 44 | 9 | Female | Cockayne syndrome |
9 | Female | 37 | 3 | Male | X-linked adrenoleukodystrophy |
10 | Male | 42 | 6 | Female | Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) |
11 | Male | 45 | 13 | Male | Allan-Herndon-Dudley syndrome |
12 | Female | 38 | 13 | Male | Peroxisome biogenesis disorder/Zellweger spectrum disorder-PEX16 |
7 | Female | Peroxisome biogenesis disorder/Zellweger spectrum disorder-PEX16 | |||
13 | Female | 36 | 7 | Male | Undiagnosed gLE |
gLE, genetically determined leukoencephalopathy.