Elusive Yet Alarming: A Rare Case of Paroxysmal Nocturnal Hemoglobinuria in a 17-Year-Old Girl Child

Kautilya Nagarjun Chaturvedi, Om Bhavesh Desai*, Vinay Reddy Sreepathi, Rudra Pankajkumar Trivedi and Pavan Mukesh Bhatt

Department of Internal Medicine, GMERS Medical College and Hospital, Vadodara, India

^*Correspondance to: Om Bhavesh Desai 

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Abstract:

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired blood disorder caused by a somatic mutation in the PIGA gene, leading to complement-driven hemolysis. The occurrence rate is only 1-9 cases per million people worldwide, with the highest prevalence observed in individuals aged 30–59 years. It is often misdiagnosed due to nonspecific symptoms, particularly the absence of thrombosis. A 17-year-old girl from rural India presented with progressive fatigue, generalized weakness, dark-colored urine, abdominal pain, and jaundice. Initially misdiagnosed as pernicious anemia, she was discharged after receiving symptomatic treatment. When she returned in worse condition, a flow cytometry test confirmed PNH, revealing significant CD55 and CD59 deficiency. After ruling out other causes of pancytopenia and anemia, PNH was diagnosed using flow cytometry. The patient received packed cell volume (PCV) transfusions and vitamin B12, followed by lifelong Eculizumab therapy. PNH remains a challenging diagnosis due to its variable presentation. Early identification and complement inhibition with Eculizumab are crucial for managing hemolysis and preventing complications. This case emphasizes the importance of considering PNH in undiagnosed hematological disorders.

Keywords:

Paroxysmal Nocturnal Hemoglobinuria (PNH), Hemolytic Anemia, PIGA Gene Mutation, Misdiagnosis

Cite the Article:

Chaturvedi KN, Desai OB, Sreepathi VR, Trivedi RP, Bhatt PM. Elusive Yet Alarming: A Rare Case of Paroxysmal Nocturnal Hemoglobinuria in a 17-Year- Old Girl Child. Clin Case Rep Int. 2025; 9: 1725..