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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

Hematological changes concomitant with FBA. Serum levels of IL-6, IL-10, and TNF-α started to increased when MP DNA was detected. FBA occurred (black arrow) when the cytokines culminated. Variations in WBC, platelets, CRP, APTT, and fibrinogen were described. APTT = activated partial thromboplastin time, CRP = C-reactive protein, FBA = frosted branch angiitis, FiB = fibrinogen, IL = interleukin, M = monocyte, MP = mycoplasma pnemoniae, Plt = platelet, TNF = tumor necrosis factor, WBC = white blood cell.
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Figure 2: Hematological changes concomitant with FBA. Serum levels of IL-6, IL-10, and TNF-α started to increased when MP DNA was detected. FBA occurred (black arrow) when the cytokines culminated. Variations in WBC, platelets, CRP, APTT, and fibrinogen were described. APTT = activated partial thromboplastin time, CRP = C-reactive protein, FBA = frosted branch angiitis, FiB = fibrinogen, IL = interleukin, M = monocyte, MP = mycoplasma pnemoniae, Plt = platelet, TNF = tumor necrosis factor, WBC = white blood cell.

Mentions: Several hematological changes were found concomitant with the ocular disorder (Figure 2). Serum levels of interleukin (IL)-6, IL-10, and tumor necrosis factor-α (TNF-α) started to increase when MP was detected, and reached a high level 19 days later. Elevated leukocyte count, decreased platelet count, increased CRP, shortened activated partial thromboplastin time (APTT), and increased fibrinogen were also noticed.


Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita
Hematological changes concomitant with FBA. Serum levels of IL-6, IL-10, and TNF-α started to increased when MP DNA was detected. FBA occurred (black arrow) when the cytokines culminated. Variations in WBC, platelets, CRP, APTT, and fibrinogen were described. APTT = activated partial thromboplastin time, CRP = C-reactive protein, FBA = frosted branch angiitis, FiB = fibrinogen, IL = interleukin, M = monocyte, MP = mycoplasma pnemoniae, Plt = platelet, TNF = tumor necrosis factor, WBC = white blood cell.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 2: Hematological changes concomitant with FBA. Serum levels of IL-6, IL-10, and TNF-α started to increased when MP DNA was detected. FBA occurred (black arrow) when the cytokines culminated. Variations in WBC, platelets, CRP, APTT, and fibrinogen were described. APTT = activated partial thromboplastin time, CRP = C-reactive protein, FBA = frosted branch angiitis, FiB = fibrinogen, IL = interleukin, M = monocyte, MP = mycoplasma pnemoniae, Plt = platelet, TNF = tumor necrosis factor, WBC = white blood cell.
Mentions: Several hematological changes were found concomitant with the ocular disorder (Figure 2). Serum levels of interleukin (IL)-6, IL-10, and tumor necrosis factor-α (TNF-α) started to increase when MP was detected, and reached a high level 19 days later. Elevated leukocyte count, decreased platelet count, increased CRP, shortened activated partial thromboplastin time (APTT), and increased fibrinogen were also noticed.

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