PMC10034176_01
Brain MRI, spinal cord MRI, and optic MRI of the patient. Axial T2-weighted fluid-attenuated inversion recovery (FLAIR) MRI shows small encephalomalacia foci with gliosis in the left basal ganglia (A, arrows) and normal optic nerves (B). Sagittal (C) and axial (D) T2-weighted MRI of the spinal cord demonstrates longitudinally extensive transverse myelitis (LETM) lesion involving medulla to C6 leve (arrows).
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F1
MRI showed lesions involving medulla and white matter around the ventricle and small encephalomalacia foci with gliosis in the left basal ganglia (Figure 1A). MRI of the optic nerve was normal (Figure 1B). MRI of the Spinal cord showed longitudinally extensive transverse myelitis lesions from the medulla to C6 level (Figures 1C,D).
PMC10034176_02
(A) Chilblain-like rash was observed on the face and ears of the child. (B) Clubbing fingers.
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F2
Physical examination showed tachypnea, retractions and clubbing fingers, as well as Chilblain-like rashes on both of cheeks (Figure 2).
(1)(2): Chest CT before the treatment at the age of 25-months old revealing ground glass opacities (GGO) and consolidations in both lungs. (3)(4): Chest CT at the age of 29-months old revealing significant absorption of GGO and consolidations in the lung after treatment for 4 months.
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F3
Chest CT (Figure 3) showed ground glass opacities (GGO) and consolidations in both lungs, suggesting interstitial lung disease (ILD).
The child(a) has a de novo mutation (c.715G>C,p.A239P), his father(b) and mother(c) have no mutation at the same location.
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F4
The whole exome sequencing (WES), conducted by Beijing MyGenostics Laboratory, revealed a heterozygous variant of COPA gene, that is, c.715G > C (p.A239P, NM_004371), which was confirmed by sanger sequencing (Figure 4).