Aicardi-Goutières syndrome (AGS) is one of the
expanding group of inherited congenital infection like syndromes.
Here, we describe the detailed clinical and imaging
findings of two sibs with AGS. Each shows scattered
periventricular intracranial calcifications, severe global delay,
seizures, microcephaly and spasticity. Interestingly, chilblains
were observed in the two sisters as well as their parents and a
paternal uncle. The brain MRI of the older sister showed
marked ventricular dilatation as a result of unusual associated
porencephalic cysts. Unexpectedly, unilateral cerebellar hypoplasia
was also noted. In comparison, her younger sister
displayed the classic atrophic changes and white matter loss
of AGS. The diagnosis of AGS was confirmed by sequence
analysis, which identified a previously reported homozygous
RNASEH2B mutation, c.554 T > G (p.V185G). Parents were
heterozygous for the same mutation. Further molecular analysis
excluded mutations in potentially related manifestations
of COL4A1 gene. This is the first report of chilblains associated
with heterozygous RNASEH2B mutation. Further, the brain imaging
findings appear particularly interesting, which until now
has not been reported in any AGS patient. We discuss the possible
reasons for this unusual presentation.
Keywords Aicardi–Goutières syndrome . Unusual .
Neuro-radiologic . Dysmorphic ventricles . Unilateral
cerebellar hypoplasia . Porencephalic cysts . RNASEH2B .
Chilblains