PMC7473299_01
(A) Magnetic resonance imaging (MRI) of the brain for case 1 showed abnormal consecutive hyperintensities along the bilateral corticospinal tracts and in the optic radiation and corpus callosum on T2-weighted (T2W) fluid-attenuated inversion recovery (FLAIR) images (white arrowheads). (B) MRI of the spinal cord for case 1 showed abnormal intramedullary lesions from T1 to T2 on T2W images (white arrowheads).
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F1
MRI showed consecutive hyperintensity along bilateral corticospinal tracts and in the optic radiation and corpus callosum on T2W FLAIR images (Figure 1A). Notably, MRI of the spinal cord also revealed abnormal hyperintensities in the thoracic cord at T1-T2 on T2W images (Figure 1B).
PMC7473299_02
(A) The genetic pedigree for case 1 (FM 1) and case 2 (FM 2). (B)
GALC gene sequencing of the family members of case 1 (FM 1) and case 2 (FM 2). FM, family; AAO, age at onset; WT, wild type.
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F2
WES detected two missense GALC mutations in this patient: c.461C>A (p.P154H) and c.1065G>C (p.W355C) (Figure 2B). p.P154H has been reported previously in KD patients. There were no reports of consanguineous marriage within this family, and all other family members were normal (Figure 2A). The patient's father and daughter were both heterozygous for p.P154H, while his mother and son were both heterozygous for p.W355C (Figure 2B).
PMC7473299_03
(A) The genetic pedigree for case 1 (FM 1) and case 2 (FM 2). (B)
GALC gene sequencing of the family members of case 1 (FM 1) and case 2 (FM 2). FM, family; AAO, age at onset; WT, wild type.
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F2
WES detected two missense GALC mutations in this patient: c.461C>A (p.P154H) and c.1065G>C (p.W355C) (Figure 2B). p.P154H has been reported previously in KD patients. There were no reports of consanguineous marriage within this family, and all other family members were normal (Figure 2A). The patient's father and daughter were both heterozygous for p.P154H, while his mother and son were both heterozygous for p.W355C (Figure 2B).
(A) Magnetic resonance imaging (MRI) of the brain for case 2 showed abnormal asymmetric consecutive hyperintensity along the bilateral corticospinal tracts (from the precentral gyrus down to the pons on the left and in the level of the centrum semiovale on the right), and in the optic radiation and corpus callosum on T2-weighted (T2W) and T2W fluid-attenuated inversion recovery (FLAIR) images (white arrowheads). MRI images of the mesocephalon have been enlarged to highlight the lesions on the pons (white ovals). (B) MRI of the spinal cord of case 2 showed abnormal inconsecutive intramedullary lesions from C1 to C5 on T2W images (white arrowheads).
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F3
MRI of the brain showed asymmetric consecutive hyperintensity along bilateral corticospinal tracts (from the precentral gyrus down to the pons on the left and in the level of the centrum semiovale on the right) and in the optic radiation and corpus callosum on T2W and T2W FLAIR images (Figure 3A). MRI of the spinal cord revealed inconsecutive lesions with high signal intensity in the cervical cord at C1-C5 on T2W images (Figure 3B).