Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?
Leah Svingen, Mitchell Goheen, Rena Godfrey and 5 others
PMID 28762473WHAT IT FOUND
Two siblings with severe spasticity were diagnosed with Aicardi-Goutières syndrome-2 despite normal CSF and atypical scans, so unexplained spastic cerebral palsy may need genetic review.
Key findings
01Whole-exome sequencing and single-nucleotide polymorphism mapping found a biallelic RNASEH2B mutation in both siblings after they had been considered to have spastic cerebral palsy of unknown cause.
02CSF analyses were normal and CT showed no parenchymal calcifications, while MRI showed globus pallidus hypointensity consistent with iron deposition.
03A communication board, laser pointer, and head-movement computer interface gave access to high-school course work and social media; earlier communication augmentation strategies were implemented, with improved social and academic achievements.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for SLPs
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What it does not show
Only two siblings from one family are described, so this cannot show how common AGS2 is among children labelled with cerebral palsy or how well communication technology works. CSF and imaging were examined late in the course, so their value for early diagnosis is uncertain. No control group or comparison intervention was used, so reported improvements cannot be separated from other factors. The report does not specify which components of communication augmentation produced the improvements, so individual effects cannot be separated. The unusual basal ganglia signal pattern is interpreted with uncertainty by the authors.
Declared interests
The siblings were enrolled in the NIH Undiagnosed Diseases Program under an Institutional Review Board-approved protocol. No author conflict-of-interest declaration is included in the supplied text.
The easy way to misread this
Do not conclude that normal CSF and atypical brain scans rule out AGS. These two siblings had a confirmed RNASEH2B mutation despite those findings.