A turkish case of subcortical/subependymal heterotopia associated with corpus callosum dysigenesis, craniofacial dysmorphism, severe eye abnormalities, and growth-mental retardation

Caksen H., Tuncer O., Atas B., Demirok A., Unal O., Ikbal M., ...More

GENETIC COUNSELING, vol.14, no.3, pp.343-348, 2003 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 3
  • Publication Date: 2003
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.343-348
  • Van Yüzüncü Yıl University Affiliated: Yes


The patient is a 12-year,old boy with a history of learning disability, growth retardation, and strabismus. Weight, height and head circumference were below the 3rd percentile. A cafe-au-lait spot, 1x1 cm a diameter, on the back region and pectus excavatum deformity were diagnosed. He had facial asymmetry a broad nose, sparse eyebrows and eyelashes, a rudimentary frontal sinus, deviation of the nasal septum, and bilateral small maxillary bones. The left orbital fossa was also mildly rudimentary. On eye examination the movements of the left globe to the upward and lateral side were limited and internal strabismus was noted at this side. Visual acuity was 1/10, bilaterally. Bilateral choroid coloboma, glaucoma, vertical and horizontal nystagmus were diagnosed. Fundoscopic examination revealed bilateral optic atrophy and macular and paramacular granulation tissues on the left side. Intelligence quotient was 46. Electroencephalography revealed bilateral frontal slow-wave activity. Visual evoked potential revealed prolonged p100 wave latencies bilaterally. Magnetic resonance imaging of the brain,demonstrated corpus callosum dysgenesis, bilateral subcortical heterotopia in the frontal lobes and subependymal heterotopia in the posterior horn of the left ventricle. Chromosomal analysis revealed a normal male karyotype, 46, XY. Although several cases of heterotopia in association with mental retardation, craniofacial dysmorphism, cerebral, and eye abnormalities have been described the combination of abnormalities diagnosed in our case has not previously been reported. We hypothesize that the combination of subcortical/subependymal heterotopia, corpus callosum dysgenesis, craniofacial dysmorphism, severe eye abnormalities, and growth-mental retardation may be a new syndrome.