Aicardi‐Goutières syndrome: clinical and neuroradiological findings of 10 new cases

Abstract

Aim: To describe the clinical and neuroimaging findings in new cases with Aicardi‐Goutières syndrome (AGS) from Egypt. Methods: Ten patients with progressive encephalopathy, bilateral calcification of the basal ganglia and spastic quadriplegia were described. Feeding difficulties, irritability, unexplained episodic fever and acrocyanosis were also observed. They were diagnosed as AGS after excluding possible non‐genetic causes (especially TORCH) and because of the high interferon‐α (IFN‐α) level in cerebrospinal fluid (CSF) in two children who underwent this specific investigation. Results: Six patients had postnatal microcephaly. Putamen was by far the most common site of calcification (nine cases) inside the basal ganglia. Calcifications were extended to the white matter, periventricular and cerebellum in three cases. Brain atrophy and/or white matter demyelination were evident in most of the cases. Further, hypogenesis of corpus callosum was detected in two cases; one of them had in addition cerebellar hypoplasia, atrial septal defect (ASD) and horseshoe kidney. To the best of our knowledge, the association of these congenital abnormalities has not been reported before in AGS. Eight families were consanguineous. Conclusion: This paper presents variability in both age of onset, clinical picture and neuroimaging findings even in the same family, comprising new congenital abnormalities associated with AGS and subsequently expanding the spectrum of heterogeneity. The observation of familial cases and both affected males and females emphasized the major role of the single gene inheritance.