1. An Unusual Congenital Anomaly in Fanconi Aplastic Anemia: Congenital Lobar Emphysema
- Author
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Çayır A, Ali Fettah, Subaşı M, Aksu T, Durur Karakaya A, Kara Ss, and Reis Gp
- Subjects
medicine.medical_specialty ,lcsh:Internal medicine ,Computed Tomography Angiography ,Congenital lobar emphysema ,Images in Hematology ,Short stature ,Tachypnea ,03 medical and health sciences ,0302 clinical medicine ,Fanconi anemia ,030225 pediatrics ,medicine ,Humans ,Aplastic anemia ,Child ,lcsh:RC31-1245 ,Mean corpuscular volume ,Respiratory distress ,medicine.diagnostic_test ,business.industry ,lcsh:RC633-647.5 ,Anemia, Aplastic ,Anemia ,Hematology ,lcsh:Diseases of the blood and blood-forming organs ,respiratory system ,medicine.disease ,Pancytopenia ,Pulmonary Emphysema ,Fanconi ,Female ,Radiology ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
A 7-year-old girl who presented with epistaxis was examined due to pancytopenia. Her medical history revealed that she had respiratory distress in the neonatal period. She was born to a second-degree consanguineous marriage. Physical examination revealed short stature, microcephaly, microphthalmia, and hypo/ hyperpigmented lesions on the trunk and extremities. She did not have tachypnea, but she had decreased breathing sounds in the left lung. A laboratory work-up revealed hemoglobin of 5.4 g/dL, mean corpuscular volume of 103/fL, leukocyte count of 2.7x109/L, and thrombocyte count of 11x109/L. A chromosomal breakage test with diepoxybutane was compatible with Fanconi anemia (FA). Posteroanterior chest X-ray showed hyperinflation of the left lung (Figure 1). Chest computed tomography revealed emphysematous changes in the upper part of the left lung, compatible with congenital lobar emphysema (Figure 2).
- Published
- 2016