Table 1.
Characteristics of hypomyelinating disorders.
Table 2.
Clinical findings of 119 patients with hypomyelinating disorders.
Table 3.
Findings of brain MRI in patients>1y with hypomyelinating disorders.
Table 4.
Molecular findings in patients with hypomyelinating disorders.
Fig 1.
MRI findings of patients with hypomyelinating disorders.
(A)–(C) P65 with PMD at 69 months of age. Homogeneous T2 hyperintensity in white matter and atrophy of corpus callosum is seen in axial T2WI (A) and sagittal T1WI (C). Axial T1WI (B) shows mild hyperintensity. (D)–(E) P106 with HABC at 7 years of age shows atrophy of cerebrum, relative preserved putamen, mild atrophy in caudate nucleus in axial T2WI (D), atrophy of cerebellum and corpus callosum in saggital T1WI (E). (F)–(G) P111 with GM1 gangliosidosis at 69 months of age showing T2 hyperintensity and cerebral atrophy. (H)–(I) P115 with GM2 gangliosidosis at 14 months old. T2WI shows diffuse hyperintensity in white matter and hypointensity in bilateral thalami (H), and mild hypointensity in white matter in T1WI (I). (J) Axial T2WI in P117 with Pol III-related leukodystrophy at 3 years of age showing diffuse T2 hyperintensity in deep white matter and posterior limb of internal capsules. T2 hypointensity was presented in anterior limb of internal capsules and corpus callosum. Axial T2WI (K) and saggital T1WI (L) of P118 with HLD9 at 18 months of age showing diffuse T2 hyperintensity in white matter and atrophy of cerebrum and corpus callosum.
Fig 2.
(A) Compound heterozygous mutations of POLR3A c.2722G>T (p.D908Y) and c.200G>A (p.R67H) in P117. (B) Compound heterozygous mutations of RARS c.5A>G (p.D2G) and c.1625+2T>G in P118.
Fig 3.
High-resolution G-banding chromosome analysis for P119 with chromosome 18q deletion syndrome.
(A) A mosaic karyotype of 46,XX,del(18)(q21.3)/46,XX,r(18)(p11.32q21.3)/45,XX,-18 of P119. (B) Detailed illustrations of 46,XX,del(18)(q21.3). (C) Detailed illustrations of 46,XX,r(18)(p11.32q21.3).
Table 5.
Researches on the genetic heterogeneity of hypomyelinating disorders.