Aicardi-Goutières综合征一例
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摘要
目的 Aicardi和Goutières于1984年首次报道了一种罕见的以脑白质受累为主的遗传性脑病,其典型的临床表现包括严重的智力运动发育落后或倒退、锥体束及锥体外系症状和体征、癫痫、小头畸形及冻疮。方法报道我院收治的Aicardi-Goutières综合征患儿1例并文献复习。该患儿出生后14 d即无明显诱因出现抽搐就诊,当地医院诊断为癫痫,予抗癫痫药物(AEDs)治疗后症状好转。4个月时出现点头、抱拳样发作,诊断为婴儿痉挛症,经促肾上腺皮质激素及药物治疗后症状渐好转。1岁2月龄时因上呼吸道感染,病情加重,后经视频脑电图、头颅核磁共振、眼底及基因筛查,确诊为Aicardi-Goutières综合征。结果外科手术及AEDs治疗,随访2年,患儿症状明显改善,术后完善脑组织病理活检,支持之前诊断。结论 Aicardi-Goutières综合征的相关报道,将有助于提高临床工作者对该疾病的诊治水平。
Objective Aicardi and Goutières syndrome was first reported as a rare hereditary encephalopathy with white matter involvement in 1984. Typical clinical manifestations include severe mental motor development retardation or regression, pyramidal and extrapyramidal symptoms and signs, epilepsy, microcephaly and frostbite.Methods To collect a case of patient who presented with convulsions 14 days after birth without obvious inducement.The child was diagnosed as epilepsy in the local hospital and the symptoms improved after treatment with antiepileptic drugs. At 4 months, the child presented nods and clenched fists, and was diagnosed as infantile spasm. After Adrenocorticotrophic hormone and drug treatment, the symptoms gradually improved. Due to upper respiratory track infection, the child was aggravated at the age of 1 year and 2 months, and then diagnosed as Aicardi-Goutières syndrome by video EEG, skull MRI, fundus and gene screening. Results Surgery and treatment with antiepileptic drugs significantly improved the symptoms of the child, and the pathological biopsy of the brain tissue supported the previous diagnosis. Conclusions The report of this case will help to improve the clinician's diagnosis and treatment of AicardiGoutières syndrome.
Objective Aicardi and Goutières syndrome was first reported as a rare hereditary encephalopathy with white matter involvement in 1984. Typical clinical manifestations include severe mental motor development retardation or regression, pyramidal and extrapyramidal symptoms and signs, epilepsy, microcephaly and frostbite.Methods To collect a case of patient who presented with convulsions 14 days after birth without obvious inducement.The child was diagnosed as epilepsy in the local hospital and the symptoms improved after treatment with antiepileptic drugs. At 4 months, the child presented nods and clenched fists, and was diagnosed as infantile spasm. After Adrenocorticotrophic hormone and drug treatment, the symptoms gradually improved. Due to upper respiratory track infection, the child was aggravated at the age of 1 year and 2 months, and then diagnosed as Aicardi-Goutières syndrome by video EEG, skull MRI, fundus and gene screening. Results Surgery and treatment with antiepileptic drugs significantly improved the symptoms of the child, and the pathological biopsy of the brain tissue supported the previous diagnosis. Conclusions The report of this case will help to improve the clinician's diagnosis and treatment of AicardiGoutières syndrome.
引文
1Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol, 1984, 15(1):49-54.
2 Merchant R, Verma M, Shah A, et al. Aicardi-Goutieres syndrome.Indian J Pediatr, 2016, 83(8):882-883.
3Abdel-Salam GMH, Abdel-Hamid MS, Mohammad SA, et al.Aicardi-Goutieres syndrome:unusual neuro-radiological manifestations. Metab Brain Dis, 2017, 32(3):679-683.
4 Livingston JH, Crow YJ. Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C,SAMHD1, ADAR1, and IFIH1:Aicardi-Goutieres syndrome and beyond. Neuropediatrics, 2016, 47(6):355-360.
5Li P, Du J, Goodier JL, et al. Aicardi-Goutieres syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion. Nucleic Acids Res,2017, 45(8):4619-4631.
6 Schmelzer L, Smitka M, Wolf C, et al. Variable clinical phenotype in two siblings with Aicardi-Goutieres syndrome type 6 and a novel mutation in the ADAR gene. Eur J Paediatr Neurol, 2018, 22(1):186-189.
7Hall JC, Rosen A. Type I interferons:crucial participants in disease amplification in autoimmunity. Nat Rev Rheumatol, 2010, 6(1):40-49.
8 Li M, Zhang D, Zhu M, et al. Roles of SAMHD1 in antiviral defense, autoimmunity and cancer. Rev Med Virol, 2017, 27(4).
9Krageloh-Mann I. Characterisation of Aicardi-Goutieres syndrome. Lancet Neurol, 2013, 12(12):1131-1132.
10 Ramantani G, Maillard LG, Bast T, et al. Epilepsy in AicardiGoutieres syndrome. Eur J Paediatr Neurol, 2014, 18(1):30-37.
11Al Mutairi F, Alfadhel M, Nashabat M, et al. Phenotypic and molecular spectrum of Aicardi-Goutieres syndrome:a study of 24patients. Pediatr Neurol, 2018, 78:35-40.
12 Luo S, Wang Y, Zhao M, et al. The important roles of type I interferon and interferon-inducible genes in systemic lupus erythematosus. Int Immunopharmacol, 2016, 40:542-549.
13Henrickson M, Wang H. Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation.Clin Rheumatol, 2017, 36(6):1445-1451.
2 Merchant R, Verma M, Shah A, et al. Aicardi-Goutieres syndrome.Indian J Pediatr, 2016, 83(8):882-883.
3Abdel-Salam GMH, Abdel-Hamid MS, Mohammad SA, et al.Aicardi-Goutieres syndrome:unusual neuro-radiological manifestations. Metab Brain Dis, 2017, 32(3):679-683.
4 Livingston JH, Crow YJ. Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C,SAMHD1, ADAR1, and IFIH1:Aicardi-Goutieres syndrome and beyond. Neuropediatrics, 2016, 47(6):355-360.
5Li P, Du J, Goodier JL, et al. Aicardi-Goutieres syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion. Nucleic Acids Res,2017, 45(8):4619-4631.
6 Schmelzer L, Smitka M, Wolf C, et al. Variable clinical phenotype in two siblings with Aicardi-Goutieres syndrome type 6 and a novel mutation in the ADAR gene. Eur J Paediatr Neurol, 2018, 22(1):186-189.
7Hall JC, Rosen A. Type I interferons:crucial participants in disease amplification in autoimmunity. Nat Rev Rheumatol, 2010, 6(1):40-49.
8 Li M, Zhang D, Zhu M, et al. Roles of SAMHD1 in antiviral defense, autoimmunity and cancer. Rev Med Virol, 2017, 27(4).
9Krageloh-Mann I. Characterisation of Aicardi-Goutieres syndrome. Lancet Neurol, 2013, 12(12):1131-1132.
10 Ramantani G, Maillard LG, Bast T, et al. Epilepsy in AicardiGoutieres syndrome. Eur J Paediatr Neurol, 2014, 18(1):30-37.
11Al Mutairi F, Alfadhel M, Nashabat M, et al. Phenotypic and molecular spectrum of Aicardi-Goutieres syndrome:a study of 24patients. Pediatr Neurol, 2018, 78:35-40.
12 Luo S, Wang Y, Zhao M, et al. The important roles of type I interferon and interferon-inducible genes in systemic lupus erythematosus. Int Immunopharmacol, 2016, 40:542-549.
13Henrickson M, Wang H. Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation.Clin Rheumatol, 2017, 36(6):1445-1451.