Niemann-Pick type B in adulthood

Abstract

SUMMARYNiemann-Pick disease (NPD) is a rare group of autosomal recessive disorders associated with intracellular deposition of sphingomyelin. NPD type B is a milder form, generally later in onset, with a good prognosis for survival into adulthood and usually with no neurological abnormalities. The authors describe the case of a 52-year-old man who presented with unexplained pancytopenia and splenomegaly. He was admitted to emergency splenectomy due to pathological splenic rupture. The histological findings showed diffuse histiocytosis, suggesting lysosomal storage disease. The NPD was confirmed when residual activity of acid sphingomyelinase in peripheral blood leucocytes and cultured skin fibroblasts was detected. Besides lipid abnormalities, the patient also had lipid interstitial pneumonia. There is no treatment for NPD. Management is based on surveillance and supportive care. The patient has reached the sixth decade of life with no symptoms and, despite the pneumonia and splenectomy, he still has a fairly healthy life. BACKGROUND

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

“…Clinical events related to hemorrhage that have been described in ASMD are recurrent epistaxis, subdural hematoma, hematemesis, hemoptysis and haematothorax. Several cases where splenic bleeding led to splenectomy have been described [47][48][49][50][51]. Splenomegaly can also cause infarction in the spleen, possibly leading to necrosis and thus requiring splenectomy as described in one case report [52].…”

“…Splenomegaly can also cause infarction in the spleen, possibly leading to necrosis and thus requiring splenectomy as described in one case report [52]. Long-term outcomes in ASMD patients after splenectomy have not been systematically described, but SM storage shifts may increase the storage burden in other organs [49,51]. This is exemplified in Gaucher disease, where splenectomy leads to aggravation of liver disease, bone disease and an increased risk of developing malignancies [53,54].…”

Renal Thrombotique microangiopathy: An unusual renal involvement in Niemann‐Pick disease type B

“…This form can affect several organs (liver, spleen, and lung). It also affects the nervous system with sometimes severe impairment 1 …”

“…It also affects the nervous system with sometimes severe impairment. 1 NPD type B is the less severe form of the disease. Its etiology is mutation in the sphingomyelin phosphodiesterase-1 gene (SMPD1) which causes a primary deficiency of acid sphingomyelinase (ASM) activity.…”