Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders

Ophthalmic Genet. 2012 Jun;33(2):116-8. doi: 10.3109/13816810.2011.626012. Epub 2012 Mar 15.


Background: Microcephaly-lymphedema-chorioretinal dysplasia (OMIM 152950) is a rare malformative inherited disorder that can be associated with other systemic features. Other ocular and brain anomalies rather than microcephaly and chorioretinal dysplasia have been inconstantly reported in this syndrome.

Methods: We present a case of microcephaly-lymphedema-chorioretinal dysplasia with a dysmorphic facies, hypertonicity in the extremities and neuropsychomotor delay. Ophthalmological examination revealed bilateral nystagmus, microphthalmia, posterior subcapsular cataratacts, extensive chorioretinal dysplasia, optic nerve aplasia, persistent fetal vasculature, and absent retinal vessels.

Results: Magnetic resonance revealed pachymicrogyria and discrete atrophy of vermis cerebelosum and confirmed optic nerve hypoplasia.

Conclusions: The developmental alterations observed in the retina of this patient could be analogous to central nervous system anomalies, reflecting a reduction in neural population. Ophthalmic examination of children with microcephaly is warranted.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Cerebellar Diseases / diagnosis
  • Cerebellar Diseases / genetics*
  • Cerebellum / abnormalities
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Facies
  • Female
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Kidney Diseases, Cystic / diagnosis
  • Kidney Diseases, Cystic / genetics*
  • Lymphedema / diagnosis
  • Lymphedema / genetics*
  • Magnetic Resonance Imaging
  • Malformations of Cortical Development / diagnosis
  • Malformations of Cortical Development / genetics*
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Optic Nerve / abnormalities*
  • Retina / abnormalities
  • Retinal Dysplasia / diagnosis
  • Retinal Dysplasia / genetics*
  • Retinal Vessels / abnormalities

Supplementary concepts

  • Agenesis of Cerebellar Vermis
  • Lymphedema, microcephaly and chorioretinopathy syndrome