背景:Niemann-Pick是一种以溶酶体贮积缺陷为特征的罕见代谢性疾病。这种疾病的特征是鞘磷脂酶酸缺乏,导致其在肾脏等各种器官中积累,脾,脾肝脏,大脑,和神经。尼曼-皮克病分为四组:A,B,C,周围神经病变是尼曼-皮克C型患者中极为罕见的并发症,这肯定会导致神经系统恶化。
方法:我们报告一例尼曼-皮克型C病的3岁伊朗Azeri女性患者,曾两次住院。第一次是在1个月大时出现脾肿大症状,黄疸,和升高的肝酶,第二次是在2岁左右,原因是精神和身体能力丧失。病人表现为未能茁壮成长。根据临床旁检查,观察到轻度延迟的髓鞘形成以及非特异性的脑室周围高信号强度。有趣的是,对患者的Niemann-Pick型C酶功能进行了两次评估,两次均为阴性,而NPC1和NPC2基因检查呈阳性。
结论:在这项研究中,尽管酶研究是阴性的,尼曼-皮克型C病终于确诊,揭示突变在Niemann-PickC型发病机制中的重要性。此外,该患者的周围神经病变被诊断为Niemann-PickC型非常罕见的症状。
BACKGROUND: Niemann-Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and nerves. Niemann-Pick disease is categorized into four groups: A, B, C, and D. Peripheral neuropathy is an extremely rare complication in patients with Niemann-Pick type C, which certainly leads to neurologic deterioration.
METHODS: We report a case of Niemann-Pick type C disease in a 3-year-old Iranian Azeri female patient who was hospitalized twice. The first time was at 1 month of age with symptoms of splenomegaly, jaundice, and elevated liver enzymes, and the second time was at around age 2 for loss of mental and physical abilities. The patient presented with failure to thrive. According to paraclinical examinations, mildly delayed myelination along with a nonspecific periventricular hypersignal intensity was seen. Interestingly, the patient\'s Niemann-Pick type C enzymatic function was evaluated twice and was negative on both occasions, while she was positive for NPC1 and NPC2 gene examinations.
CONCLUSIONS: In this study, despite the enzymatic study being negative, Niemann-Pick type C disease was finally confirmed, revealing the importance of mutations in Niemann-Pick type C pathogenesis. Besides, peripheral neuropathy was diagnosed in this patient as a very rare symptom of Niemann-Pick type C.