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Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case Report
Xiao-Yu Zheng1, Jia Xu, Wei Li
1From the Department of Ophthalmology (X-YZ, C-PS); Department of Hematology-Oncology (S-SL); Department of Child Health Care (Z-YZ); Department of Nephrology (J-HM); the Central Lab (WL, XC), The Children's Hospital of Zhejiang University School of Medicine, Hangzhou; and Department of Ophthalmology (JX), the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
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.
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