Bilateral internal carotid artery agenesis in a child with psychomotor developmental delay.
In a 2-year-old boy with severe psychomotor developmental delay and a dysmorphic face, a chromosome study revealed a balanced translocation: 46XY,t-(1;3)(p31.2;p21). With magnetic resonance angiography, bilateral internal carotid artery agenesis was diagnosed. Periventricular high-intensity areas were evident on T2-weighted imaging, but no major cerebral malformation was observed.
Yokochi
K
K
Department of Rehabilitation; Ohzora-no-iye Hospital; Inasa, Japan.
Iwase
K
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D002343:Carotid Artery, Internal / Q000002:abnormalities*; D002878:Chromosomes, Human, Pair 1 / Q000648:ultrastructure*; D002893:Chromosomes, Human, Pair 3 / Q000648:ultrastructure*; D004374:Ductus Arteriosus, Patent / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D018810:Magnetic Resonance Angiography; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D014178:Translocation, Genetic