Open AccessBochdalek hernia with Diamond-Blackfan anemia associated with RPS19 gene mutation
Author(s) -
Ye Seul Yoo,
Na Hee Lee,
Young Bae Choi
Publication year - 2019
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000017337
Subject(s) - medicine , diamond–blackfan anemia , congenital diaphragmatic hernia , pure red cell aplasia , bochdalek hernia , anemia , fanconi anemia , prednisone , pediatrics , gastroenterology , bone marrow examination , bone marrow , fetus , genetics , pregnancy , ribosome , rna , gene , dna repair , biology
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.