Aicardi-Goutieres syndrome in siblings.
Two siblings with familial encephalopathy, calcification of the basal ganglia, and cerebrospinal fluid lymphocytosis, constituting the triad of Aicardi-Goutieres syndrome, are reported. This syndrome resembles congenital intrauterine infections, which must be meticulously excluded. Aicardi-Goutieres syndrome is extremely rare and is being reported from the Arab world for the first time to our knowledge.
Koul
R
R
Department of Child Health, Sultan Qaboos University Hospital, Al Khod, Sultanate of Oman. rkoul@omantel.net.om
Chacko
A
A
Joshi
S
S
Sankhla
D
D
D001284:Atrophy; D001480:Basal Ganglia Diseases / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics*; D001925:Brain Damage, Chronic / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics*; D002114:Calcinosis / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics*; D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008218:Lymphocytosis / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed