Patiño-Escobar Bonell, Solano Maria H, Zarabanda Laura, Casas Claudia P, Castro Carlos
Hematology, San Jose Hospital - University Foundation of Health Sciences, Bogotá, COL.
Seedbed of Research Program, San Jose Hospital - University Foundation of Health Sciences, Bogotá, COL.
Cureus. 2019 May 28;11(5):e4767. doi: 10.7759/cureus.4767.
Niemann-Pick (NP) disease is a rare, autosomal recessive disorder characterized by visceromegaly and neurological alterations due to the excessive storage of lipids, sphingomyelin, and cholesterol. It commonly affects the child population, and only 6% of it occurs in the adult population. Type A is classified as the acute form, type B is the latest and with the best prognosis, and type C is characterized by neurological alteration. The diagnosis is based on enzymatic tests and genetic sequencing, with the latter being the diagnostic confirmation test. No specific treatment exists for this entity, although some patients with NPC type C may benefit from pharmacological treatment with miglustat. The objective of this paper is to describe the clinical characteristics of a grown patient with Niemann-Pick diagnosis type B. This article reports the case of a 55-year-old adult patient with a three-year clinical history consisting of splenomegaly and hematological disorders, without neurological symptoms ruling out frequent pathologies. Type B NP disease is diagnosed by a mutation in the sphingomyelin phosphodiesterase 1 (SMPD1) gene. The patient was receiving multidisciplinary support treatment. Although NP disease is a rare disease according to the literature, it is important to consider this group of disorders as a differential diagnosis, when other more common pathologies have been ruled out in patients with isolated splenomegaly and thrombocytopenia.
尼曼-匹克（NP）病是一种罕见的常染色体隐性疾病，其特征为因脂质、鞘磷脂和胆固醇过度蓄积而导致的脏器肿大和神经功能改变。该病通常影响儿童群体，仅6%发生于成人。A型被归类为急性型，B型是最新的且预后最佳，C型以神经功能改变为特征。诊断基于酶学检测和基因测序，后者为诊断确认试验。尽管C型NPC患者中的一些人可能从米格列醇的药物治疗中获益，但该疾病尚无特效治疗方法。本文的目的是描述一名确诊为B型尼曼-匹克病的成年患者的临床特征。本文报告了一例55岁成年患者，其有三年临床病史，包括脾肿大和血液系统疾病，无神经症状，排除了常见疾病。B型NP病通过鞘磷脂磷酸二酯酶1（SMPD1）基因突变确诊。该患者接受了多学科支持治疗。尽管根据文献NP病是一种罕见疾病，但在孤立性脾肿大和血小板减少的患者中排除其他更常见疾病时，将这组疾病作为鉴别诊断很重要。
