PMC10442541_01
PMC10442541_02
PMC10442541_03
Contrasted brain CT of the patient. (A) Transverse sinus thrombosis. (B) Superior sagittal sinus thrombosis.
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F1
The brain CT was reevaluated by our pediatric neuroradiologists, which showed cerebral venosinus thrombosis at the superior sagittal and transverse sinuses without evidence of cerebral edema or infarction (Figure 1).
EEG of the patient showing the burst-suppression pattern.
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F2
C and protein S levels were not analyzed. Continuous electroencephalography (EEG) was performed, which showed a burst-suppression pattern without electrographic seizures (Figure 2).
PMC10442541_04
GLDC and PROC variants confirmed by Sanger sequencing of the family. (A) GLDC variants. (B) PROC variants.
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F3
Trio short-read whole exome sequencing (WES) with targeted gene analysis for hyperglycinemia (HP0002154: 19 genes) was performed, which revealed a heterozygous c.492C > G; p.Tyr164Ter (NM_000170.3) variant in exon 4 of the GLDC gene of the patient and the father, and no likely pathogenic/pathogenic variant in the GLDC gene of the mother (Figure 3A). T (p.Arg189Trp or Arg147Trp) in the protein C (PROC) gene (NM_000312.3) (Figure 3B). This PROC variant was inherited from his homozygous asymptomatic mother.