Matsumoto Naoya, Takahashi Satoru, Toriumi Naohisa, Sarashina Takeo, Makita Yoshio, Tachibana Yukiteru, Fujieda Kenji
Department of Pediatrics, Abashiri Kosei Hospital, Abashiri, Hokkaido, Japan.
Brain Dev. 2009 Sep;31(8):625-8. doi: 10.1016/j.braindev.2008.08.010. Epub 2008 Sep 21.
We report the case of a female Japanese infant who was diagnosed with incontinentia pigmenti (IP) on the basis of the clinical and pathological findings of characteristic skin lesions and the detection of deletion in the nuclear factor-kappa B essential modulator gene at Xq28. The patient developed repetitive seizures at the age of 7 months when she was diagnosed with acute disseminated encephalomyelitis (ADEM), an inflammatory demyelinating disease of the central nervous system that often occurs after vaccination or infection. The causative infectious agent in this patient seemed to be Mycoplasma pneumoniae because of the increased titer of its serum antibody and the detection of its DNA in the initial cerebrospinal fluid sample. This patient showed significant improvement on receiving immunosuppressive therapy with corticosteroids. This is the second case report presenting an IP patient susceptible to ADEM, and therefore, ADEM should be considered early in the differential diagnosis of acute neurological illness for IP patients.
我们报告了一例日本女婴病例，该病例根据特征性皮肤病变的临床和病理表现以及在Xq28处核因子-κB必需调节基因缺失的检测结果，被诊断为色素失禁症（IP）。该患者在7个月大时被诊断为急性播散性脑脊髓炎（ADEM），这是一种中枢神经系统的炎症性脱髓鞘疾病，常发生在接种疫苗或感染后，随后出现反复癫痫发作。由于该患者血清抗体滴度升高且在初始脑脊液样本中检测到肺炎支原体DNA，其致病感染因子似乎是肺炎支原体。该患者接受皮质类固醇免疫抑制治疗后有显著改善。这是第二例报告的易患ADEM的IP患者，因此，对于IP患者的急性神经疾病鉴别诊断应尽早考虑ADEM。
