Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications: Aicardi-Goutieres Syndrome

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

Read article at journal's website

Related Articles

Responses

Your email address will not be published.