A team of Chinese researchers presented a series of cases of aplastic anemia associated with paroxysmal nocturnal hemoglobinuria (PNH) in the Chinese Journal of Pediatrics.
Among the cases published was that of a 7-year-old girl who presented to the Beijing Children’s Hospital due to “discovered ecchymosis and bleeding points all over the body for more than 1 month,” according to the authors.
Laboratory investigations revealed a white cell count of 2.9 × 109/L, a hemoglobin of 97 g/L, and a platelet count of 6 × 109/L. A bone marrow smear revealed active bone marrow hyperplasia; 1 megakaryocyte was detected in the whole film and PNH clones were negative.
The patient was thus admitted for further investigations. Further history-taking revealed an unremarkable birth history and past medical history. There was also no family history of genetic diseases.
Read more about PNH etiology
A physical examination revealed that the child’s cognition was normal. However, she appeared mildly anemic, but no skin hemorrhagic points were detected on her body. In addition, there were no palpable lymph nodes; heart, lung, and abdominal examinations were likewise unremarkable.
Additional biochemical tests revealed lactate dehydrogenase levels of 365 U/L and total bilirubin of 20.5 μmol/L. A bone marrow biopsy performed upon admission revealed nucleated cell proliferation less than 0.100 of PNH clones and a normal karyotype.
The child was diagnosed with aplastic anemia and treated with oral cyclosporine. This caused her blood parameters to return to normal, and she remained on small doses of cyclosporine upon discharge.
Thirty-four months after treatment, she developed headaches, which were revealed to be caused by venous sinus thrombosis. A reexamination of PNH clones resulted in a refined diagnosis of aplastic anemia associated with PNH. Her physicians prescribed her nadroparin calcium and warfarin, which resolved her blood abnormalities.
“In conclusion, children with aplastic anemia should be regularly monitored for PNH clones in view of possible aplastic anemia/PNH syndrome,” they wrote.
Yang B, Fu L, Wu R, et al. Three cases of aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome. Chin J Pediatr. 2023;61(4): 370-372. doi:10.3760 /cma.j.cn112140-20220726-00674