AN UNUSUAL SURVIVING HISTORY: MULTISYSTEM INVOLVEMENT UNTIL ADULT LIFE WITH NIEMANN PICK TYPE B

Abstract

Niemann-Pick disease (NPD) occurs with the storage of lipids including sphingomyelin and cholesterol due to acid sphyngomyelinase deficiency. Based on genetic cause and clinical picture NPD are divided in four main types. The type B is called as non-neuronopathic variant in which many patients may survive several decades. Infiltration by lipid-laden foam cells of tissues contribute to life-threatening complications. We here present a case who has been diagnosed as having NPD in the adulthood. A 46-year-old male patient with peripheral edema and dyspnea and abdominal distention was investigated. He has a medical history of aortic and tricuspid valve regurgitation with severe pulmonary hypertansion, decreased ejection fraction as 35% and acsending aort aneurism on 30 years old. He experienced three years later ascending aortic replacement and aortic valve replacement. He developed dyspnea, bleeding gums, and alveolar hemorrhage was diagnosed on 40s. Pancytopenia associated massive splenomegaly and hepatomegaly contibute reassesment of the disease. Bone marrow revealed moderate hypercellularity T lymphocytosis, focal mild dysplasic changes, and mild reticulin fiber increase. No cytogenetic abnormality and PNH clone was detected. He had developed congestive heart failure and massive proteinuria. Also he had medically controlled hyperlipidemia and interstitial lung disease. A storage disease investigation was started. Plasma Chitotriosidase was found to be increased and leukocyte sphingomyelinase activity was decreased. A genetic screening for NPD revealed homozygote (SMPD1 p.V36A (c.107T> C) (rs1050228) and heterozygote G508R (c.1522G> A) (rs1050239).NPD type was diagnosed with probable kidney involevement and cardiac cirrhosis. Supportive treatment was decided. He succumbed in a short time on sepsis atack unfortunetaly. NPD type B is a rare storage disease. It is a multisystemic disease characterized by its clinical variability and could be overlooked until adulthood life with various differential diagnosis option. It should be considered.