title: Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders.
abstract: 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.
authors.affiliation: Hospital Universitario La Paz, Pediatric Ophthalmology, Madrid, Spain. personatality@yahoo.es
authors.forename: Natalia
authors.initials: N
authors.lastname: Pastora
authors.forename: Jesus
authors.initials: J
authors.lastname: Peralta
authors.forename: Irene
authors.initials: I
authors.lastname: Canal-Fontcuberta
authors.forename: Anna
authors.initials: A
authors.lastname: Grabowska
authors.forename: Jose S
authors.initials: JS
authors.lastname: Pulido
authors.forename: Jose
authors.initials: J
authors.lastname: Abelairas
authors.forename: Felix
authors.initials: F
authors.lastname: Armada
authors.forename: Alfredo
authors.initials: A
authors.lastname: Garcia-Alix
mesh_terms: D000015:Abnormalities, Multiple; D002526:Cerebellar Diseases / Q000175:diagnosis / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D019066:Facies; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000235:genetics*; D008209:Lymphedema / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000175:diagnosis / Q000235:genetics*; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D009900:Optic Nerve / Q000002:abnormalities*; D012160:Retina / Q000002:abnormalities; D015792:Retinal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D012171:Retinal Vessels / Q000002:abnormalities