case_images: PMC10442541_01
case_images: PMC10442541_02
case_images: PMC10442541_03
case_images: Contrasted brain CT of the patient. (A) Transverse sinus thrombosis. (B) Superior sagittal sinus thrombosis.
case_images: fped-11-1155035-g001.jpg
case_images: PMC10442541_03_fped-11-1155035-g001.jpg
case_images: F1
case_images: 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).
case_images: EEG of the patient showing the burst-suppression pattern.
case_images: fped-11-1155035-g002.jpg
case_images: PMC10442541_03_fped-11-1155035-g002.jpg
case_images: F2
case_images: C and protein S levels were not analyzed. Continuous electroencephalography (EEG) was performed, which showed a burst-suppression pattern without electrographic seizures (Figure 2).
case_images: PMC10442541_04
case_images: GLDC and PROC variants confirmed by Sanger sequencing of the family. (A) GLDC variants. (B) PROC variants.
case_images: fped-11-1155035-g003.jpg
case_images: PMC10442541_04_fped-11-1155035-g003.jpg
case_images: F3
case_images: 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.