PMC8517520_01
Brain MRI at 10 days and 3 months of age. (A) T2W: Red boxes indicate a high signal of basal ganglia, swelling of bilateral lenticular nucleus; Red arrows indicate an abnormal signal point of posterior branch of right internal capsule. (B) T2W: Red boxes indicate white matter of occipital lobe has high signal, and the boundary of gray and white matter is not clear.
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F1
T2 and FLAIR, where the lenticular nucleus was swollen on both sides. There were multiple hyperintensity patches on the dorsal side of the brainstem and posterior limb of the internal capsule near the anterior and posterior horns of the right lateral ventricle (Figure 1).
Pedigree diagram and genetic characterization of the family with SERAC1 and SATB2. Parents and sisters are heterozygous carriers of the SERAC1 gene; The yellow point represents the mutation of SATB2 gene. Heterozygous mutation (c.227-228dupAT) in SERAC1 was found in the patient, her father and her healthy sister. Heterozygous mutation (c.1502-1G>C) in SERAC1 was found in the patient and her mother. Heterozygous mutation (c.1166G>A) in SATB2 was only found in the patient; Red arrow indicate location of mutation.
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F2
Next-generation sequencing and Sanger sequencing detected two compound heterozygotes of SERAC1 (c.1502-1G>C(likely pathogenic) from the maternal side, c.227-228dupAT(pathogenic) from the paternal side) and a de novo variant of SATB2 (c.1166G>A) (likely pathogenic) (Figure 2).
PMC8517520_02