A case report of paroxysmal nocturnal hemoglobinuria in a child.
A ten-year-old boy with paroxysmal nocturnal hemoglobinuria (PNH) is described. Although hemolytic anemia was evident, Ham's test was negative and the erythrocyte acetylcholinesterase (ACHE) activity was normal at the first admission. The diagnosis of hemolytic anemia of unknown etiology was made. Methylprednisolone pulse therapy was started, but could not prevent the hemolytic crises associated with infections. Twelve months later Ham's test turned positive and ACHE activity decreased. The diagnosis of PNH was confirmed. As the disease is insidious in onset, we emphasize that a high index of suspicion and Ham's test and sucrose water test repeated at regular intervals are required to avoid missing the diagnosis.
Higashigawa
M
M
Department of Pediatrics, Mie University School of Medicine, Tsu, Japan.
Murata
H
H
Iguchi
K
K
Sakurai
M
M
D000110:Acetylcholinesterase / Q000378:metabolism; D000743:Anemia, Hemolytic / Q000175:diagnosis; D002648:Child; D003951:Diagnostic Errors; D004912:Erythrocytes / Q000201:enzymology; D006457:Hemoglobinuria, Paroxysmal / Q000175:diagnosis* / Q000201:enzymology; D006461:Hemolysis; D006801:Humans; D008297:Male
D000110:Acetylcholinesterase