Table 2 Clinical characteristics of 13 participants with pediatric genetic white matter disorders
From: Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders
Case | Gender | Age/AOO | Clinical symptom | Brain MRI | APOE |
|---|---|---|---|---|---|
1 | Male | 11/10 | Progressive visual impairment, speech problem, adrenocortical insufficiency | Bilateral WMH in parieto-occipital region | ε2ε3 |
2 | Male | 28/13 | Progressive speech problem, memory deficit, visuospatial impairment, ataxia, adrenocortical insufficiency | Bilateral WMH in parieto-occipital region | ε3ε3 |
3 | Male | 11/10 | Progressive intellectual impairment, visual and auditory impairment, dysarthria, ataxia, spastic paraplegia, adrenocortical insufficiency | Bilateral WMH in parieto-occipital region, degeneration of corticospinal tracts in brainstem | ε2ε2 |
4 | Male | 14/12 | Progressive intellectual impairment, visual impairment, ataxia, spastic paraplegia | Bilateral WMH in tempo-parieto-occipital region, splenium of corpus callosum | ε3ε3 |
5 | Male | 17/16 | Intellectual impairment, dysuria after syncope | Bilateral WMH in centrum semiovale, corona radiata | ε3ε3 |
6 | Male | 29/7 | Progressive ataxia, rapid deterioration of cognitive function, psychosis, spastic tetraplegia, dysuria after trauma | Bilateral diffuse WMH in centrum semiovale, corona radiata, middle cerebellar peduncles, cystic degeneration | ε3ε3 |
7 | Female | 22/12 | Progressive intellectual impairment, spastic tetraplegia, dysarthria, dysuria, seizure | Bilateral diffuse WMH in centrum semiovale, corona radiata, middle cerebellar peduncles, cystic degeneration, restricted diffusion | ε3ε3 |
8 | Male | 2/1.5 | Motor regression, spastic tetraplegia, dysarthria, feeding difficulties | Bilateral diffuse WMH in centrum semiovale, corona radiata, splenium of corpus callosum, restricted diffusion, stripe-like pattern | ε3ε3 |
9 | Male | 28/17 | Progressive cognitive impairment, pyramidal sign | Bilateral diffuse WMH in periventricular area | ε3ε3 |
10 | Male | 13/3 | Motor development delay, intellectual disability, seizure | Bilateral diffuse WMH in centrum semiovale, corona radiata, corpus callosum, middle cerebellar peduncles | ε3ε3 |
11 | Male | 15/12 | Progressive intellectual impairment, peripheral neuropathy, pyramidal sign | Diffuse WMH in subcortical regions and cerebellum, restricted diffusion | ε3ε3 |
12 | Male | 1.5/0.8 | Developmental retardation, optic atrophy | Bilateral diffuse WMH in centrum semiovale, corona radiata | ε3ε3 |
13 | Female | 29/16 | Auditory impairment, psychosis after delivery, dysplasia of left femur head, deformity of left toe | Bilateral diffuse WMH in centrum semiovale, corona radiata, cerebellum, brainstem | ε4ε4 |