Clinical characteristics of Angelman syndrome child with 2 periods of long-standing fever and literature review

doi:10.3877/cma.j.issn.1673-5250.2016.06.007

Objective

To explore the clinical characteristics of an Angelman syndrome(AS) child who had 2 periods of long-standing fever, and to analyze it by summarizing pertinent literature.

Methods

A 9-month old Han girl with AS who lived in Tibetan and hospitalized due to" fever for 3⁺ months and convulsion for 5 times" in West China Second University Hospital, Sichuan University in September 2013, was chosen as study object. Retrospectively analyzed the clinical case history and the cases of AS with fever were searched from VIP, CNKI, Wanfang, and PubMed Database from their establishment to August 2015.

Results

①The case report results: the girl presented with two periods of long-standing fever (last 8 months at 6-month old and 2 months at 18-month old, respectively) which caused by respiratory infections in the beginning, and still had fever for a long time after therapy by the antibiotic. She presented with frequent meaningless laughing, and mental and motor developmental delay, such as development delay of speech, head control unsteady, seen without following objects, involuntary movements of the hands and feet, repeated convulsions and abnormal electroencephalogram patterns. She had a microarray analysis and was found deletion of 15q11.2-q13.1, the methylation-speccific multiplex ligation-dependent probe amplification method test confirmed maternal deletion of 15 q11-13. Followed up 3 years, she got the treatment with antiepileptic drug and her body temperature dropped to a normal level after she lived in low ambient temperature(14 ℃) or low atmospheric pressure and hypoxia region(2 100 m above sea level) for a short time. Then she got seizure free, mental and motor development improved with the high body temperature droped. ②Literature retrieval results: ten related articles of AS with fever were found from the databases above mentioned, there were only 2 of which included 3 AS cases that had long-standing fever with 1 period.

Conclusions

There are some improvement of long-standing fever for children with AS when they are living in the low ambient temperature, low atmospheric pressure and hypoxia region.Their convulsive seizure, mental and motor developmental delay would improved with the body temperature drops to normal.

Key words: Angelman syndrome, Fever, Anoxia, Child

图1 对1例女性AS患儿随访36个月的体温、气温及气压关系图

图2 1例9个月龄女性AS患儿15号染色体微阵列分析结果

表1 长期发热AS患儿文献报道情况

文献	就诊年龄	性别	国籍	发热年龄(月)	体温(℃)	发热持续时间	精神或运动发育情况	染色体检查结果
本例	9个月	女	中国	6、18	37.5～39.7	分别持续8个月和2个月，共2次	6个月龄时发现精神运动发育落后	染色体微阵列及甲基化检查发现母源性15号染色体11.2-13.1缺失
AS长期发热2例报道^[3]	8个月	女	土耳其	1	37.8～39.0	随访至1岁仍有发热	6个月龄时发现运动发育落后，有肌阵挛发作和手、足过多运动	FISH检查发现15号染色体长臂缺失
AS长期发热2例报道^[3]	20个月	男	土耳其	2	37.5～39.0	20个月龄时仍有发热	6个月龄时发现运动发育落后	FISH检查发现15号染色体长臂缺失
Happy Puppet综合征^[4]	6岁	女	印度	8	不详	4个月	8个月龄前发育未见异常	FISH检查发现15号染色体母源性等位基因微缺失

表1 长期发热AS患儿文献报道情况

文献	就诊年龄	性别	国籍	发热年龄(月)	体温(℃)	发热持续时间	精神或运动发育情况	染色体检查结果
本例	9个月	女	中国	6、18	37.5～39.7	分别持续8个月和2个月，共2次	6个月龄时发现精神运动发育落后	染色体微阵列及甲基化检查发现母源性15号染色体11.2-13.1缺失
AS长期发热2例报道^[3]	8个月	女	土耳其	1	37.8～39.0	随访至1岁仍有发热	6个月龄时发现运动发育落后，有肌阵挛发作和手、足过多运动	FISH检查发现15号染色体长臂缺失
AS长期发热2例报道^[3]	20个月	男	土耳其	2	37.5～39.0	20个月龄时仍有发热	6个月龄时发现运动发育落后	FISH检查发现15号染色体长臂缺失
Happy Puppet综合征^[4]	6岁	女	印度	8	不详	4个月	8个月龄前发育未见异常	FISH检查发现15号染色体母源性等位基因微缺失

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