case_images: PMC10750348_01
case_images: (A-1) Lumbosacral plexus MRN: lumbosacral plexus hypertrophy and hypersignal. (A-2) Fiber track showed markedly thickened nerve fibers. (B) Head MRI: (B-1) axial T2WI demonstrated the change of diffused, symmetrical long T2 signal in white matter of cerebral hemispheres. (B-2) Coronal FLAIR images revealed the change of generalized, symmetrical high signal in white matter of cerebral hemispheres and cerebellar hemispheres. (C) Identified complex heterozygous mutations in the PRF1 gene, c.1349 C>T (p.T450M) (paternal), and c.984>A (p.W328*) (maternal); G3P3 died of HLH at the age of 3 with an unknown genotype; G4P4 carried the same complex heterozygous mutations in the PRF1 gene and clinically unaffected.
case_images: fimmu-14-1306338-g001.jpg
case_images: PMC10750348_01_fimmu-14-1306338-g001.jpg
case_images: f1
case_images: Figures 1A-1 ). Fiber track results revealed markedly thickened nerve fibers ( Figures 1A-2 ). Fluorodeoxyglucose-positron emission tomography/computed tomography (FDG-PET/CT) results also showed an increased 18F-FDG uptake in the thickening plexus nerve, but not elsewhere. Another 3.5-year-old brother of the patient carried the same complex heterozygous mutations in the PRF1 gene but was clinically unaffected at present ( Figure 1C ). During hospitalization, she developed demyelinating encephalopathy before the commencement of the HLH-2004 therapeutic regimen, as evidenced by brain MRI, which revealed generalized, symmetrical demyelinating in white matter of the cerebrum and cerebellum hemisphere ( Figures 1B-1, B-2 ), and EEG results indicated a slow wave, although subsequent HLH-2004 protocol provided some improvement.