A case of Aicardi-Goutières syndrome_Journal of Epilepsy

Authors：

GAO Zaifen ¹ , HE Jing ² , SHI Jianguo ¹ , CHEN Yehong ¹ , LUO Junxia ¹ , HU Wandong ¹ , WANG Meng ¹ ,  ZHOU Wenjing ²

1. Department of Neurology, Shandong University Qilu children Hospital, Jinan 250022, China;
2. Department of Epilepsy Center, Tsinghua University Yuquan Hospital, Beijing 100040, China;

Corresponding author：

ZHOU Wenjing, Email: closejeo@hotmail.com

Keywords：

Aicardi-Goutières syndrome; Video EEG; Magnetic resonance imaging

DOI：

10.7507/2096-0247.20190015

Video：

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ObjectiveAicardi 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.MethodsTo 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.ResultsSurgery and treatment with antiepileptic drugs significantly improved the symptoms of the child, and the pathological biopsy of the brain tissue supported the previous diagnosis.ConclusionsThe report of this case will help to improve the clinician's diagnosis and treatment of Aicardi-Goutières syndrome.

Citation： GAO Zaifen, HE Jing, SHI Jianguo, CHEN Yehong, LUO Junxia, HU Wandong, WANG Meng, ZHOU Wenjing. A case of Aicardi-Goutières syndrome. Journal of Epilepsy, 2019, 5(2): 88-93. doi: 10.7507/2096-0247.20190015 Copy

1.	Aicardi 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.
3.	Abdel-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.
5.	Li 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.
7.	Hall 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).
9.	Krageloh-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 Aicardi-Goutieres syndrome. Eur J Paediatr Neurol, 2014, 18(1): 30-37.
11.	Al Mutairi F, Alfadhel M, Nashabat M, et al. Phenotypic and molecular spectrum of Aicardi-Goutieres syndrome: a study of 24 patients. 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.
13.	Henrickson M, Wang H. Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation. Clin Rheumatol, 2017, 36(6): 1445-1451.

1. Aicardi 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.
3. Abdel-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.
5. Li 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.
7. Hall 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).
9. Krageloh-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 Aicardi-Goutieres syndrome. Eur J Paediatr Neurol, 2014, 18(1): 30-37.
11. Al Mutairi F, Alfadhel M, Nashabat M, et al. Phenotypic and molecular spectrum of Aicardi-Goutieres syndrome: a study of 24 patients. 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.
13. Henrickson M, Wang H. Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation. Clin Rheumatol, 2017, 36(6): 1445-1451.

Journal of Epilepsy

A case of Aicardi-Goutières syndrome

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