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Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita

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ABSTRACT

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome, usually presented with abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. The main cause of mortality in DC is immunodeficiency and vital infection. DC involves multisystem, but retinal involvements are rare.

Herein, we report an unusual case of pediatric DC suffering from frosted branch angiitis (FBA) after recovery of mycoplasma pneumonia. Cytomegalovirus infection and cytokine changes were found relevant to the onset of FBA. Despite corticosteroids, antiviral medication, and hematopoietic stem cell transplantation, the patient ended in poor vision with optic atrophy.

This case implies that pediatricians should be aware of FBA as a rare retinal manifestation in children with DC and bone marrow failure. Cytomegalovirus may be one of the common causes and cytokines could be triggering factors.

No MeSH data available.


Related in: MedlinePlus

Imaging charaterization of FBA. A, B, Bilateral funduscopy showed FBA, retinal edema, hemorrhages, and papilledema. C, D, FFA showed tortuous and dilated retinal veins, arteriolar-venular anastomoses (white arrow), arterial occlusion (white arrow head), capillary nonperfusion and vascular leakage. G, H, OCT showed macular edema and retinal detachment (red arrow). E, F, After 2 weeks, vascular sheathing resolved, leaving hard exudates. K, L, OCT images also improved. I, J, After 3 months, pale optic nerve heads, retinal vessels with a “silver wire” appearance, crystalline deposits, and peripheral atrophic depigmentation were observed. FBA = frosted branch angiitis, FFA = fundus fluorescein angiography, OCT = optical coherence tomography.
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Figure 1: Imaging charaterization of FBA. A, B, Bilateral funduscopy showed FBA, retinal edema, hemorrhages, and papilledema. C, D, FFA showed tortuous and dilated retinal veins, arteriolar-venular anastomoses (white arrow), arterial occlusion (white arrow head), capillary nonperfusion and vascular leakage. G, H, OCT showed macular edema and retinal detachment (red arrow). E, F, After 2 weeks, vascular sheathing resolved, leaving hard exudates. K, L, OCT images also improved. I, J, After 3 months, pale optic nerve heads, retinal vessels with a “silver wire” appearance, crystalline deposits, and peripheral atrophic depigmentation were observed. FBA = frosted branch angiitis, FFA = fundus fluorescein angiography, OCT = optical coherence tomography.

Mentions: However, on day 19, the patient complained of a sudden decrease in visual acuity, dry eyes, and relapsed fever. Ophthalmic examination showed best corrected visual acuity (BCVA) of 6/60 in the right eye and 6/7.5 in the left eye. External and anterior segment examinations were unremarkable except for shortened tear break-up time of 5 seconds and relative afferent pupillary defect. Fundoscopy revealed mild vitreous haze, marked discontinuous sheathing of veins, and arteries in all 4 quadrants, with clouds of exudates surrounding the vessels and severe papilledema. Fundus fluorescein angiography (FFA) showed tortuous and dilated retinal veins, arteriolar-venular anastomoses, arterial occlusion, capillary nonperfusion, and vascular leakage. Optical coherence tomography (OCT) revealed macular edema and retinal detachment. A diagnosis of FBA was made (Figure 1 A–D, G, and H).


Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita
Imaging charaterization of FBA. A, B, Bilateral funduscopy showed FBA, retinal edema, hemorrhages, and papilledema. C, D, FFA showed tortuous and dilated retinal veins, arteriolar-venular anastomoses (white arrow), arterial occlusion (white arrow head), capillary nonperfusion and vascular leakage. G, H, OCT showed macular edema and retinal detachment (red arrow). E, F, After 2 weeks, vascular sheathing resolved, leaving hard exudates. K, L, OCT images also improved. I, J, After 3 months, pale optic nerve heads, retinal vessels with a “silver wire” appearance, crystalline deposits, and peripheral atrophic depigmentation were observed. FBA = frosted branch angiitis, FFA = fundus fluorescein angiography, OCT = optical coherence tomography.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4998378&req=5

Figure 1: Imaging charaterization of FBA. A, B, Bilateral funduscopy showed FBA, retinal edema, hemorrhages, and papilledema. C, D, FFA showed tortuous and dilated retinal veins, arteriolar-venular anastomoses (white arrow), arterial occlusion (white arrow head), capillary nonperfusion and vascular leakage. G, H, OCT showed macular edema and retinal detachment (red arrow). E, F, After 2 weeks, vascular sheathing resolved, leaving hard exudates. K, L, OCT images also improved. I, J, After 3 months, pale optic nerve heads, retinal vessels with a “silver wire” appearance, crystalline deposits, and peripheral atrophic depigmentation were observed. FBA = frosted branch angiitis, FFA = fundus fluorescein angiography, OCT = optical coherence tomography.
Mentions: However, on day 19, the patient complained of a sudden decrease in visual acuity, dry eyes, and relapsed fever. Ophthalmic examination showed best corrected visual acuity (BCVA) of 6/60 in the right eye and 6/7.5 in the left eye. External and anterior segment examinations were unremarkable except for shortened tear break-up time of 5 seconds and relative afferent pupillary defect. Fundoscopy revealed mild vitreous haze, marked discontinuous sheathing of veins, and arteries in all 4 quadrants, with clouds of exudates surrounding the vessels and severe papilledema. Fundus fluorescein angiography (FFA) showed tortuous and dilated retinal veins, arteriolar-venular anastomoses, arterial occlusion, capillary nonperfusion, and vascular leakage. Optical coherence tomography (OCT) revealed macular edema and retinal detachment. A diagnosis of FBA was made (Figure 1 A–D, G, and H).

View Article: PubMed Central - PubMed

ABSTRACT

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome, usually presented with abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. The main cause of mortality in DC is immunodeficiency and vital infection. DC involves multisystem, but retinal involvements are rare.

Herein, we report an unusual case of pediatric DC suffering from frosted branch angiitis (FBA) after recovery of mycoplasma pneumonia. Cytomegalovirus infection and cytokine changes were found relevant to the onset of FBA. Despite corticosteroids, antiviral medication, and hematopoietic stem cell transplantation, the patient ended in poor vision with optic atrophy.

This case implies that pediatricians should be aware of FBA as a rare retinal manifestation in children with DC and bone marrow failure. Cytomegalovirus may be one of the common causes and cytokines could be triggering factors.

No MeSH data available.


Related in: MedlinePlus