TY - JOUR
T1 - Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis
T2 - An integration of brain-ocular migration disorders
AU - Pastora, Natalia
AU - Peralta, Jesus
AU - Canal-Fontcuberta, Irene
AU - Grabowska, Anna
AU - Pulido, Jose S.
AU - Abelairas, Jose
AU - Armada, Felix
AU - Garcia-Alix, Alfredo
PY - 2012/6
Y1 - 2012/6
N2 - 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.
AB - 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.
KW - Cerebellar vermis atrophy
KW - Chorioretinal dysplasia
KW - Lymphedema
KW - Microcephaly
KW - Neuronal migration disorder
KW - Optic nerve hipoplasia
KW - Pachymicrogyria
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UR - http://www.scopus.com/inward/citedby.url?scp=84863438276&partnerID=8YFLogxK
U2 - 10.3109/13816810.2011.626012
DO - 10.3109/13816810.2011.626012
M3 - Article
C2 - 22420539
AN - SCOPUS:84863438276
SN - 1381-6810
VL - 33
SP - 116
EP - 118
JO - Ophthalmic Genetics
JF - Ophthalmic Genetics
IS - 2
ER -