BACKGROUND Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase. CASE PRESENTATION We present a case of NPD type B with a unique compound heterozygosity for SMPD1 (NM_000543.4:c.[84delC];[96G > A]) in which both mutations that induce an early stop codon are located before the second in-frame initiation codon. The clinical presentation of the patient is compatible with NPD type B. She was initially diagnosed of Gaucher Disease, but her altered lipid profile led to a clinical suspicion of NPD. Combined high doses of atorvastatin and ezetimibe were given to treat the severe hypercholesterolemia. CONCLUSIONS The pharmacological management of the lipid profile in these patients is important. A unique compound mutation in SMPD1 gene is described.

中文翻译：

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B型尼曼-皮克病：具有复合杂合性和复杂的脂质管理的独特病例报告。

背景技术尼曼-匹克病（NPD）是一种罕见的常染色体隐性遗传性疾病，其特征在于酸性鞘磷脂酶活性不足。病例介绍我们介绍了一个NPD B型，其SMPD1具有独特的化合物杂合性（NM_000543.4：c。[84delC]; [96G> A]），其中诱导早期终止密码子的两个突变都位于第二个框起始密码子。该患者的临床表现与B型NPD相容。她最初被诊断为Gaucher病，但她的血脂谱改变导致临床怀疑NPD。联合使用大剂量阿托伐他汀和依泽替米贝治疗严重的高胆固醇血症。结论这些患者的脂质分布的药理学管理很重要。描述了SMPD1基因中独特的化合物突变。