Table 1 Clinical manifestations of POLR3-related leukodystrophy patients
Classical manifestations | Rare manifestation | |
|---|---|---|
Neurology | Cerebellar features: gait ataxia, dysarthria, dysmetria, tremor, nystagmus, swallowing deterioration; cognitive degression; pyramidal signs | Microcephaly; seizures; extrapyramidal signs; dystonia |
Non-neurology | ||
Dental | natal teeth, delayed dentition, abnormal order of teeth eruption, hypodontia | |
Endocrine | hypogonadotropic hypogonadism with delayed, arrested or absent puberty; short stature | late-onset GH deficiency |
Ocular | myopia | Cataract; optic atrophy |
Bone | short status | Osteosclerosis; hyperostosis frontalis; thick frontal bones; Vertebral Anomalies |
Bladder | chronic bladder dysfunction | |
Brain MRI imaging | ||
Hypomyelination | ventrolateral thalamus, optic radiation, globus pallidus, pyramidal tracts within the posterior limb of the internal capsule and dentate nucleus | selective hypomyelination of the corticospinal tracts; cerebellar atrophy with or without focal hypomyelination; Involvement of the striata and red nuclei; supratentorial and infratentorial; peripheral hypomyelination |
Atrophy | Cerebellar; thinning of the corpus callosum | cortical |
MR spectroscopic abnormality | decrease of choline-containing compounds;increased myoinositol | |