Your browser doesn't support javascript.
loading
Congenital deaf-mutism with pale complexion and anemia for 1 year in a school-aged girl / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics ; (12): 1105-1109, 2019.
Article in Chinese | WPRIM | ID: wpr-775047
ABSTRACT
An 11-year-old girl was found to have pale complexion and anemia with gradual aggravation for one year. She was weak in the past and developed pneumonia in the right middle lung 3-5 times per year, which was improved after anti-infective therapy. She and her mother had congenital deaf-mutism. Physical examination showed the appearance of anemia, without bleeding, jaundice, hepatosplenomegaly, or lymph node enlargement. Routine blood test results showed reductions in all three blood cell lines, normocytic anemia, and megaloblastoid change in granulocytic and erythroid cell lines in bone marrow, with no obvious increase in primitive cells or metastatic tumor cells. Whole exome sequencing indicated the presence of a known pathogenic mutation for Emberger syndrome (ES), c.1084C>T (p.Arg362*) in the GATA2 gene. The girl was finally diagnosed with ES, and myelodysplastic syndrome (MDS) progressed to acute myeloid leukemia during follow-up. ES is a rare type of MDS with autosomal dominant inheritance in clinical practice, and it is difficult to make a confirmed diagnosis. ES should be considered for children with unexplained lymphedema and congenital deafness, and gene detection should be performed to make a confirmed diagnosis.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Myelodysplastic Syndromes / GATA2 Transcription Factor / Anemia / Lymphedema / Mutism Limits: Child / Female / Humans Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2019 Type: Article

Similar

MEDLINE

...
LILACS

LIS

Full text: Available Index: WPRIM (Western Pacific) Main subject: Myelodysplastic Syndromes / GATA2 Transcription Factor / Anemia / Lymphedema / Mutism Limits: Child / Female / Humans Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2019 Type: Article