A 29-year-old man presented with an 18-year history of progressive spastic gait and bizarre behaviors (Video 1). Cerebral palsy was initially suspected. Brain CT (Figure, A–C) showed extensive intracranial calcifications. Serum parathyroid hormone, calcium, and phosphate levels were normal. Hypopigmented macules were uncovered on the dorsal hands, which developed since age 6 (Figure, D). Genetic testing revealed a pathogenic heterozygous p.Gly1007Arg variant in ADAR1, confirming Aicardi-Goutières syndrome 6 (AGS6).1
Figure. Brain CT and Cutaneous Findings in Aicardi-Goutières Syndrome.
(A–C) Brain CT reveals severe and extensive bilateral intracranial calcifications in the basal ganglia, thalamus, cerebellum, and subcortical white matter. (D) Dermatology examination uncovers small hypopigmented macules in the dorsal aspect of both hands.
Gait assessment of the 29-year-old patient. The patient presented with spastic gait and forced laughter. Note the unremarkable cutaneous pigmented lesions on the dorsal aspects of hands.Download Supplementary Video 1 (6.1MB, mp4) via http://dx.doi.org/10.1212/013294_Video_1
AGS is an autoinflammatory disease characterized by childhood-onset systemic inflammation with encephalopathy and cutaneous lesions due to enhanced type I interferon signaling.2 Intracranial calcifications with cutaneous lesions should raise suspicion of AGS.
Acknowledgment
The authors thank the patient and his family.
Appendix. Authors
Study Funding
Supported by grants 82025012 and U1905210 from the National Natural Science Foundation of China and grant 2019J02010 from the Natural Science Foundation of Fujian Province (W.-J.C.).
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
References
- 1.Rice GI, Kasher PR, Forte GM, et al. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet. 2012;44(11):1243-1248. [DOI] [PMC free article] [PubMed] [Google Scholar]
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Supplementary Materials
Gait assessment of the 29-year-old patient. The patient presented with spastic gait and forced laughter. Note the unremarkable cutaneous pigmented lesions on the dorsal aspects of hands.Download Supplementary Video 1 (6.1MB, mp4) via http://dx.doi.org/10.1212/013294_Video_1