Niemann-Pick disease type C (NP-C) is a rare autosomal-recessively inherited lysosomal storage disorder. It is caused by mutations in the NPC1 (95%) or NPC2 gene. It is a progressive and highly heterogeneous disease, characterized by the presentation of visceral, neurological, and psychiatric symptoms. Apart from the patients that die early from organic failure, most of the patients with juvenile and adolescent/adult onset of the disease, develop neurological and psychiatric symptoms. In some cases psychiatric signs, mostly psychosis, can be the first sign of the disease. A delay in diagnosis is often seen. By describing the case of a 16-year old girl, we would like to highlight current opinion about NP-C disease and resume recent findings on the clinical presentation, diagnosis and treatment. We focus on the psychiatric signs, and most important the specific combinations that are typical for the disease. There is no curative treatment for NP-C. Miglustat is used to modify neurological signs in NP-C.

中文翻译：

---

青春期女孩的精神病：Niemann-Pick C 型疾病的常见表现。

Niemann-Pick C 型病 (NP-C) 是一种罕见的常染色体隐性遗传的溶酶体贮积症。它是由 NPC1 (95%) 或 NPC2 基因突变引起的。它是一种进行性和高度异质性的疾病，其特征在于表现出内脏、神经和精神症状。除了因器质性衰竭而过早死亡的患者外，大多数青少年和青少年/成人发病的患者都会出现神经和精神症状。在某些情况下，精神症状，主要是精神病，可能是疾病的第一个迹象。经常看到诊断延误。通过描述一个 16 岁女孩的病例，我们想强调当前对 NP-C 疾病的看法，并回顾最近关于临床表现、诊断和治疗的发现。我们专注于精神症状，最重要的是该疾病典型的特定组合。NP-C 没有治愈性治疗方法。Miglustat 用于修改 NP-C 中的神经系统体征。