Bochdalek hernia with Diamond-Blackfan anemia associated with RPS19 gene mutation: A case report. Issue 39 (September 2019)

• Record Type: Journal Article
• Authors: Yoo, Ye Seul; Lee, Na Hee; Choi, Young Bae
• Other Names: NA. section editor.
• Is Part Of: Medicine. Volume 98:Issue 39(2019)
• Publication Date: 2019-09
• Subjects: bochdalek hernia -- congenital diaphragmatic hernia -- Diamond-Blackfan anemia; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000017337
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract: Rationale: Diamond-Blackfan anemia (DBA) is a rare inherited marrow disorder, characterized by erythrocyte aplasia and is associated with congenital anomalies and a susceptibility to cancer. Although congenital abnormalities have been observed in ∼50% of DBA patients, the occurrence of an associated congenital diaphragmatic hernia (CDH) has rarely been reported. Patient concerns: A 19-month-old male child was referred to our pediatric hematology-oncology outpatient clinic with anemic appearance. He presented to us with recurrent anemia, short stature, and developmental delay. Diagnosis: On bone marrow examination, only erythropoietic cells were markedly decreased in number, whereas other cell lines were unaffected. An abdominal computed tomography scan revealed a Bochdalek type of CDH. A genetic analysis revealed heterozygous mutation of RPS19 ; therefore, he was diagnosed as having DBA with CDH. Interventions: The patient received an initial packed red blood cell transfusion, followed by an administration of oral prednisone. Outcomes: The patient is maintained on oral prednisone administered at a dose of 0.3 mg/kg every alternate day and has since a hemoglobin level of >9.0 g/dL without further RBC transfusions. Lessons: We learned that a Bochdalek type of CDH can manifest in a DBA patient with RPS19 gene mutation. Therefore, patients diagnosed with the latter disorder should also be screened for an early detection of potential CDHs.