PMC9794844_01
Results of pathological studies. (A) Liver core biopsy at the age 4 months showing mainly periportal fibrosis and cholestasis. Hematoxylin and eosin stain, original magnification 200x. (B) Liver core biopsy at the age 7 months revealed progression of periportal fibrosis toward perisinusoidal pattern. AZAN stain, original magnification 200x. (C) Explanted liver sample at cirrhotic stage. Hematoxylin and eosin stain, original magnification 200x. (D) Skeletal muscle biopsy showing variability of muscle fiber diameters. Hematoxylin and eosin stain, frozen section, original magnification 200x.
fped-10-1061043-g001.jpg
PMC9794844_03_fped-10-1061043-g001.jpg
F1
Liver cholestatic cirrhosis was confirmed grossly and microscopically in the explanted organ, see Figure 1D.
PMC9794844_02
Results of pathological studies. (A) Liver core biopsy at the age 4 months showing mainly periportal fibrosis and cholestasis. Hematoxylin and eosin stain, original magnification 200x. (B) Liver core biopsy at the age 7 months revealed progression of periportal fibrosis toward perisinusoidal pattern. AZAN stain, original magnification 200x. (C) Explanted liver sample at cirrhotic stage. Hematoxylin and eosin stain, original magnification 200x. (D) Skeletal muscle biopsy showing variability of muscle fiber diameters. Hematoxylin and eosin stain, frozen section, original magnification 200x.
fped-10-1061043-g001.jpg
PMC9794844_03_fped-10-1061043-g001.jpg
F1
Liver cholestatic cirrhosis was confirmed grossly and microscopically in the explanted organ, see Figure 1D.
Brain MR examinations performed at 6 months (upper row), 14 months (middle row), and 5 years (bottom row). (A) Axial T2-WI. T2-weighted images at 6 months showed delayed brain myelination; on follow-up examination at 14 months, myelination was progressed, but it still incomplete. On last examination at 5 years, myelination was complete. Brainstem with tegmental hyperintensity was seen at 6 and 14 months and was almost completely resolved at 5 years. Width Virchow-Robin spaces appeared at 5 years. (B) Axial DWI (diffusion weighted images with b = 1000) and ADC maps. At 6 months, abnormal restricted diffusion (hyperintense in DWI:long arrows and hypointense in ADC maps:short arrows) involving anterior and posterior limbs of internal capsules, anterior parts of external capsules, mesial temporal white matter, optic radiations were seen. Restricted diffusion in the cerebral peduncles as well as in the central tegmental tracts and superior cerebellar peduncles are shown. At 14 months, images showed milder degree of residual restricted diffusion which returned to normal at 5 years. ADC, apparent diffusion coefficient.
fped-10-1061043-g002.jpg
PMC9794844_04_fped-10-1061043-g002.jpg
F2
Control brain MR, performed at that age, showed normal results, see Figure 2.
PMC9794844_03
Results of pathological studies. (A) Liver core biopsy at the age 4 months showing mainly periportal fibrosis and cholestasis. Hematoxylin and eosin stain, original magnification 200x. (B) Liver core biopsy at the age 7 months revealed progression of periportal fibrosis toward perisinusoidal pattern. AZAN stain, original magnification 200x. (C) Explanted liver sample at cirrhotic stage. Hematoxylin and eosin stain, original magnification 200x. (D) Skeletal muscle biopsy showing variability of muscle fiber diameters. Hematoxylin and eosin stain, frozen section, original magnification 200x.
fped-10-1061043-g001.jpg
PMC9794844_03_fped-10-1061043-g001.jpg
F1
Liver cholestatic cirrhosis was confirmed grossly and microscopically in the explanted organ, see Figure 1D.
PMC9794844_04
Brain MR examinations performed at 6 months (upper row), 14 months (middle row), and 5 years (bottom row). (A) Axial T2-WI. T2-weighted images at 6 months showed delayed brain myelination; on follow-up examination at 14 months, myelination was progressed, but it still incomplete. On last examination at 5 years, myelination was complete. Brainstem with tegmental hyperintensity was seen at 6 and 14 months and was almost completely resolved at 5 years. Width Virchow-Robin spaces appeared at 5 years. (B) Axial DWI (diffusion weighted images with b = 1000) and ADC maps. At 6 months, abnormal restricted diffusion (hyperintense in DWI:long arrows and hypointense in ADC maps:short arrows) involving anterior and posterior limbs of internal capsules, anterior parts of external capsules, mesial temporal white matter, optic radiations were seen. Restricted diffusion in the cerebral peduncles as well as in the central tegmental tracts and superior cerebellar peduncles are shown. At 14 months, images showed milder degree of residual restricted diffusion which returned to normal at 5 years. ADC, apparent diffusion coefficient.
fped-10-1061043-g002.jpg
PMC9794844_04_fped-10-1061043-g002.jpg
F2
Control brain MR, performed at that age, showed normal results, see Figure 2.
PMC9794844_05