Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis

An integration of brain-ocular migration disorders

Natalia Pastora, Jesus Peralta, Irene Canal-Fontcuberta, Anna Grabowska, Jose S Pulido, Jose Abelairas, Felix Armada, Alfredo Garcia-Alix

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)116-118
Number of pages3
JournalOphthalmic Genetics
Volume33
Issue number2
DOIs
StatePublished - Jun 2012

Fingerprint

Microcephaly
Optic Nerve
Atrophy
Nervous System Malformations
Microphthalmos
Genetic Databases
Retinal Vessels
Brain
Retina
Magnetic Resonance Spectroscopy
Extremities
Central Nervous System
Population
Cerebellar Vermis
Microcephaly and chorioretinopathy syndrome Lymphedema

Keywords

  • Cerebellar vermis atrophy
  • Chorioretinal dysplasia
  • Lymphedema
  • Microcephaly
  • Neuronal migration disorder
  • Optic nerve hipoplasia
  • Pachymicrogyria

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Cite this

Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis : An integration of brain-ocular migration disorders. / Pastora, Natalia; Peralta, Jesus; Canal-Fontcuberta, Irene; Grabowska, Anna; Pulido, Jose S; Abelairas, Jose; Armada, Felix; Garcia-Alix, Alfredo.

In: Ophthalmic Genetics, Vol. 33, No. 2, 06.2012, p. 116-118.

Research output: Contribution to journalArticle

Pastora, Natalia ; Peralta, Jesus ; Canal-Fontcuberta, Irene ; Grabowska, Anna ; Pulido, Jose S ; Abelairas, Jose ; Armada, Felix ; Garcia-Alix, Alfredo. / Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis : An integration of brain-ocular migration disorders. In: Ophthalmic Genetics. 2012 ; Vol. 33, No. 2. pp. 116-118.
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