Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

• DOI: 10.1186/s12920-022-01353-2
• Publication Date: 2022-09-16T21:02:44Z
• Authors: Zhe-wen Zhou; Shou-hao Wang; Cheng-an Xu; Wen-hao Wu; Tian-chen Hui; Qiao-qiao Yin; Wei Zheng; Hong-ying Pan
• Keywords: Hepatosplenomegaly

Abstract Background The chronic visceral subtype of acid sphingomyelinase deficiency, commonly known as Niemann Pick disease type B (NPDB), is a relatively rare autosomal recessive genetic disorder that caused by mutations in the SMPD1 gene. NPDB with sea-blue histiocytes (SBH) clinically mimics Budd-Chiari syndrome (BCS), it lacks specific clinical characteristics. This makes its diagnosis difficult. Case presentation Here, we report case SBH was misdiagnosed BCS for three years. A 20-year-old female abdominal distension, hepatosplenomegaly, and haematological anomalies initially diagnosed based on her imaging finding thin hepatic vein rapid blood flow at confluence inferior vena cava. Her bone marrow cytology found histiocytes. Liver biopsy showed foamy cytoplasm hepatocytes surrounded numerous Kupffer cells. Sequencing analysis gene led to two missense heterozygous state: C.829 T > C (p.Trp277Arg) exon 2 (novel) c.1805G (p.Arg602His) 6 (already described). These findings established NPDB. Conclusion patient presented anomalies, dyslipidaemia. Thus, should be considered following exclusion related diseases. suspected symptoms routine laboratory tests confirmed liver sequencing. novel mutation c.829 has never been reported needs further investigated.