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incontinentia pigmenti with intracranial arachnoid cyst: A case report

World Journal of Clinical Cases 2022年第23期10卷 8352-8359页

作者： Wen-Chao Li Man-Li Li Jiang-Wei Ding Lei Wang Shu-Ren Wang Yang-Yang Wang Li-Fei Xiao Tao Sun Department of Neurosurgery General Hospital of Ningxia Medical UniversityYinchuan 750000Ningxia Hui Autonomous RegionChina Department of Neurosurgery The First Affiliated Hospital of Xinxiang Medical UniversityXinxiang 453000Henan ProvinceChina Department of Physiology Sanquan College of Xinxiang Medical UniversityXinxiang 453000Henan ProvinceChina

BACKGROUND incontinentia pigmenti(IP)is a rare X-linked dominant genetic disorder that can be fatal in male *** is a disease that affects many systems of the human *** addition to characteristic skin changes,patients may also have pathological features of the eyes,teeth,and central nervous ***,the lesions in these systems may be the first symptoms for which patients seek *** date,no cases of IP complicated by intracranial arachnoid cyst(IAC)have been *** paper aims to report a case of IP with IAC in order to share the diagnosis and treatment experience of this rare case with other *** SUMMARY An 11-year-old female patient suffered intermittent limb convulsions for five months and was sent to *** the initial stage,the patient was considered to have primary *** investigation of the patient's medical history,physical examination and imaging examination led to the diagnosis of IP combined with intracranial space-occupying lesions,and secondary *** patient was treated with craniotomy,and postoperative pathology revealed an *** patient recovered well after craniotomy and had no obvious surgeryrelated *** the follow-up period,the patient did not have recurrent epilepsy *** IP is a multi-system disease that presents with typical skin lesions at birth,but the long-term prognosis of this disease depends on the involvement of systems other than the skin,especially nervous system and ocular lesions.

关键词： incontinentia pigmenti Intracranial space-occupying lesions X-linked Craniotomy Case report

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Late contralateral recurrence of retinal detachment in incontinentia pigmenti:A case report

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World Journal of Clinical Cases 2022年第13期10卷 4171-4176页

作者： You-Ran Cai Yong Liang Xin Zhong Department of Ophthalmology The First Affiliated Hospital of Guangxi Medical UniversityNanning 530021Guangxi ProvinceChina

BACKGROUND incontinentia pigmenti(IP)is a rare X-linked genetic *** mainly manifests as skin lesions and causes problems in the eyes,teeth,bones,and central nervous *** the various ocular manifestations,the most severe with difficult recovery is retinal detachment(RD).Here,we report an unusual case of bilateral asymmetrical *** SUMMARY We present the case of an 11-year-old Chinese girl with IP who complained of sudden blurring of vision in the left *** that time,she had been blind in her right eye for 4 *** with traction was observed in both eyes.A massive retinal proliferative membrane,exudation,and hemorrhage were seen in the left *** performed vitrectomy in her left *** visual acuity recovered to 20/50,and her retina had flattened within 2 d after *** the 3-mo follow-up,we performed retinal laser treatment of the non-perfused retinal area in her left ***,her visual acuity returned to 20/32,and no new retinal abnormalities *** In patients with IP with fundal abnormalities in one eye,it is important to focus on the rate of fundal change in the other *** in its early stages can be effectively treated with timely vitrectomy and laser photocoagulation.

关键词： incontinentia pigmenti Bilateral Retinal detachment Shift code mutation Vitrectomy Case report

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