Center of Infectious Diseases, West China Hospital, Sichuan University, 37 Guoxue Lane, Chengdu, 610041, China.
BMC Infect Dis. 2024 Jul 3;24(1):666. doi: 10.1186/s12879-024-09473-z.
Leprosy is a chronic infectious disease caused by Mycobacterium leprae (M. leprae) that is responsible for deformities and irreversible peripheral nerve damage and has a broad spectrum of clinical and serological manifestations. Leprosy primarily affects the peripheral nerves and rarely presents with central nervous system involvement. Diagnosing leprosy can still be difficult in some cases, especially when the infection involves uncommon clinical manifestations and extracutaneous sites. Delayed diagnosis and treatment of leprosy may lead to irreversible damage and death.
We report a case of a 30-year-old female presenting with "repeated high fever with symptoms of headache for 14 days". On the day of admission, physical signs of lost eyebrows and scattered red induration patches all over her body were observed. The patient's diagnosis was based on the clinical characteristics using a combination of metagenomic next-generation sequencing (mNGS) of cerebrospinal fluid (CSF) and slit-skin smear. After confirming Listeria meningitis and multibacillary leprosy with erythema nodosum leprosum (ENL), a type 2 reaction, she was treated with ampicillin sodium, dapsone, rifampicin, clofazimine, methylprednisolone, and thalidomide. At the 1-year follow-up, the frequency and severity of headaches have significantly decreased and a good clinical response with improved skin lesions was found.
This case highlights the importance of considering leprosy, which is a rare and underrecognized disease, in the differential diagnosis of skin rashes with rheumatic manifestations, even in areas where the disease is not endemic, and physicians should be alerted about the possibility of central nervous system infections. In addition, mNGS can be used as a complementary diagnostic tool to traditional diagnostic methods to enhance the diagnostic accuracy of leprosy.
麻风病是一种由麻风分枝杆菌（M. leprae）引起的慢性传染病，可导致畸形和不可逆转的周围神经损伤，具有广泛的临床和血清学表现。麻风病主要影响周围神经，很少涉及中枢神经系统。在某些情况下，麻风病的诊断仍然很困难，尤其是当感染涉及不常见的临床表现和皮肤外部位时。麻风病的诊断和治疗延迟可能导致不可逆转的损伤和死亡。
我们报告了一例 30 岁女性患者，因“反复高热伴头痛 14 天”就诊。入院当天，观察到患者眉毛缺失和全身散在红色硬结斑块的体征。根据临床特征，结合脑脊液（CSF）宏基因组下一代测序（mNGS）和皮肤划痕检查，该患者被诊断为莱姆病脑膜炎和多菌型麻风病，伴有结节红斑（ENL），即 2 型反应。随后给予氨苄西林钠、氨苯砜、利福平、氯法齐明、甲泼尼龙和沙利度胺治疗。在 1 年随访时，头痛的频率和严重程度明显降低，皮肤病变得到改善，临床反应良好。
本病例强调了在风湿表现的皮疹鉴别诊断中考虑麻风病的重要性，即使在疾病非流行地区也是如此，因为麻风病是一种罕见且认识不足的疾病。此外，mNGS 可作为传统诊断方法的补充诊断工具，以提高麻风病的诊断准确性。
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