PMC10288297_01
Radiography of the lower limbs shows cortical thickening of both femurs (arrowhead),
fibula (arrow), and tibia (arrow).
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Radiography of the lower limbs showed cortical thickening of the femur, fibula, and tibias (Fig. 1).
(A), (B) Visual field testing in the right and left eyes showed no internal isopter
desensitization at 18 yr of age. (C) At 20 yr of age just before prednisolone
administration, left visual field testing showed decreased internal isopter
sensitivity, and (D) right visual field testing showed an enlarged Marriott's blind
spot. (E) At 2 mo after prednisolone administration, left visual field testing showed
no change of decreasing internal isopter sensitivity, while (F) right visual field
testing showed a slight improvement in the expansion of the Marriott blind spot.
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A decrease in the size of the left internal isopter was also observed (Figs. 2A, 2B). Visual field testing revealed an enlarged Marriott's blind spot in the right eye and decreased internal isopter sensitivity in the left eye (Figs. 2C, 2D). The visual field test showed similar left internal isopter desensitization, and the expansion of the Marriott blind spot improved slightly on the right side (Figs. 2E, 2F).
(A) STIR coronal image showed no abnormal signals on the bilateral optic nerve at the
age of 18 yr and 4 mo. The subarachnoid space around the optic nerve is observed as a
high-signal area predominantly on the left side (arrowhead). (B) The left optic nerve
was slightly hyperintense at 19 yr and 5 mo of age (arrowhead) before prednisolone
treatment. (C) The left optic nerve showed marked hyperintense (arrowhead), and the
right optic nerve become mild hyperintense (arrow) at 20 yr old just before the
administration of prednisolone. (D) After 12 wk of prednisolone treatment, the high
signal intensity in the right optic nerve was slightly improved (arrow), but the left
optic nerve did not change (arrowhead).
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Magnetic resonance imaging (MRI) revealed a short tau inversion recovery (STIR) coronal image showing enlargement of the subarachnoid space around the left optic nerve (Fig. 3A). The left optic nerve showed high signal intensity on the STIR image (Fig. 3B). On MRI, the left optic nerve showed markedly high intensity, and the right side showed slightly high intensity, suggesting edematous changes in the optic nerve or optic neuritis (Fig. 3C). Twelve weeks after the initiation of prednisolone treatment, the STIR signal of the right optic nerve improved slightly but that of the left optic nerve did not change (Fig. 3D).
(A) Coronal CT image (bone window) showed markedly thickening of the whole skull,
including around the optic canal (arrowheads). (B, C) There is bony thickening and
narrowing of the bilateral optic canals. The degree of narrowing was not different on
the right and left (arrowheads). (D) Bilateral ophthalmic arteries were well
visualized by MRA (arrowheads).
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Tomography (CT) showed the thickening of the entire skull (Fig. 4A). The optic canals narrowed bilaterally, and there was no difference in the degree of narrowing between the left and right canals (Figs. 4B, 4C). MRA did not reveal ophthalmic arterial stenosis (Fig. 4D).
(A), (B) Ophthalmoscopy revealed bilateral papilledema at 20 yr of age just before
prednisolone administration. Right papilledema was more severe than left papilledema.
(C), (D) Eight weeks after prednisolone administration, ophthalmoscopy revealed
improvement of papilledema.
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Ophthalmoscopy revealed optic atrophy on the left side and papilledema (Figs. 5A, 5B). Ophthalmoscopy revealed bilateral papilledema (Figs. 5C, 5D).
In this patient, a heterozygous missense variant was present in exon4 of
TGFB1, resulting in p.Cys223Tyr. T and C bases were present
(arrow). The sequence was the reverse strand.
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Sanger sequencing confirmed the presence of this variant (Fig. 6).