Bilateral internal carotid artery agenesis in a child with psychomotor developmental delay

Pediatr Neurol. 1996 Jul;15(1):76-8. doi: 10.1016/0887-8994(96)00125-7.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Carotid Artery, Internal / abnormalities*
  • Chromosomes, Human, Pair 1 / ultrastructure*
  • Chromosomes, Human, Pair 3 / ultrastructure*
  • Ductus Arteriosus, Patent / genetics
  • Face / abnormalities
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Magnetic Resonance Angiography
  • Male
  • Muscle Hypotonia / genetics
  • Translocation, Genetic*