Primary/de novo paroxysmal nocturnal hemoglobinuria in a child from north India: a case report with review of literature.
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematologic disorder, characterized by intravascular hemolysis, thrombosis, or bone marrow failure. It is very rare in children. The clinical manifestations are due to deficiency of a family of membrane proteins that are anchored into the cell membrane through glycosylphosphatidylinositol (GPI). Currently, flow cytometric analysis of GPI-linked proteins has replaced the traditional Ham test (acidified-serum lysis test) and sucrose lysis test, it being a quantitative and more sensitive method. The only curative treatment of the disease is stem cell transplantation. We are reporting a case of de novo pediatric PNH, presenting with hemoglobinuria and a sizeable clone of GPI-anchor deficient blood cells, along with review of reported cases of PNH in pediatric patients. PNH can occur in children and has varied clinical and hematologic presentations; the presence of PNH should be considered in every child with an acquired bone marrow failure, unexplained hemoglobinuria and/or unexpected serious thrombosis. Pediatricians should keep this disorder in mind, when patients present with above features.
Hemato-Oncology Unit, Advanced Pediatric Center, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Shano
S
Naseem
Neelam
N
Varma
Amita
A
Trehan
D002648:Child; D005434:Flow Cytometry; D017261:Glycosylphosphatidylinositols / Q000378:metabolism; D006457:Hemoglobinuria, Paroxysmal / Q000097:blood* / Q000473:pathology*; D006461:Hemolysis; D006801:Humans; D007194:India; D008297:Male
D017261:Glycosylphosphatidylinositols