PMC9905704_01
(A-E) Fluorodeoxyglucose positron emission tomography (FDG-PET) scan performed at the local hospital. The images showed diffuse hepatomegaly and splenomegaly with a slightly increased FDG uptake, without other abnormal FDG accumulation or intracranial lesions. (F-M) A magnetic resonance imaging scan of the abdomen revealed hepatosplenomegaly with countless nodules of various sizes involving the whole liver and spleen, which showed hypointensity on T1-weighted (T1W) images (F), hyperintensity on T2-weighted (T2W) images (G), and inhomogeneous enhancement in diffusion MRI (I, H, L). Diffusion-weighted imaging (DWI) (I) showed a slightly higher signal intensity; however, the apparent diffusion coefficient (ADC) (J) value did not decrease. (F) T1W image. (G) Fat-saturated T2-weighted sequence (fsT2W). (H) The enhanced scan in the transverse view. (I) DWI. (J) ADC. (K) T2W image in the coronal view. (L) The enhanced scan in coronal view. (M) The enhanced scan of the whole abdomen in coronal view.
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Other metabolic abnormalities or intracranial lesions, such as leukoencephalopathy, parenchymal cysts, and intracranial calcification, were not observed ( Figure 1 ). The MRI showed hepatosplenomegaly with numerous variable-sized nodules in the whole liver and spleen, which showed hypointensity on T1-weighted images and hyperintensity on T2-weighted images and inhomogeneous enhancement in diffusion MRI ( Figure 1 ).
Results of whole exome sequencing showed compound heterozygous variants in the CTC1 gene with a c.3074C>T (p.Ala1025Val) mutation (exon 19) (A) and a c.435+9A>C mutation (IVS3) (B). (A) CTC1 NM_025099.5 exon 19 c.3074C>T (p.Ala1025Val). (B) CTC1 NM_025099.5 IVS3 c.435+9A>C.
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The Beijing Genomics Institute, Shenzhen), and the results showed compound heterozygous variants of the CTC1 gene with a missense mutation, c.3074C>T (p.Ala1025Val) (exon 19), and a splicing site mutation, c.435+9A>C (IVS3) ( Figure 2 ). The pathogenicity of both mutations remains unknown.
Timeline. FDG-PET, fluorodeoxyglucose positron emission tomography.
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Relevant clinical courses are shown in  Figure 3 .