A 4-year-old girl was hospitalized for psychomotor delay, low vision, and horizontal nystagmus. She was found to have bilateral chorioretinal atrophic scars and 2 large occipital porencephalic cavities. High plasma ornithine levels led to the presumed diagnosis of gyrate atrophy of the choroid and retina. After 6 months of arginine-restricted diet and high-dose pyridoxine (300 mg/d), there was no change of plasma ornithine level or ocular findings. To our knowledge, this is the first report showing an association of porencephaly with gyrate atrophy of the choroid and retina.

Rigante, D., Savastano, M. C., Leone, A., Falsini, B., Baldascino, A., La Torraca, I., Lepore, D., Sacco, E., De Nisco, A., Minnella, A. M., Occipital porencephaly in a child with gyrate atrophy of the choroid and retina., <<JOURNAL OF AAPOS>>, 2010; 2010 (14(5)): 462-464 [http://hdl.handle.net/10807/3680]

Occipital porencephaly in a child with gyrate atrophy of the choroid and retina.

Rigante, Donato;Savastano, Maria Cristina;Leone, Antonio;Falsini, Benedetto;Baldascino, Antonio;La Torraca, Ilaria;Lepore, Domenico;De Nisco, Alessia;Minnella, Angelo Maria
2010

Abstract

A 4-year-old girl was hospitalized for psychomotor delay, low vision, and horizontal nystagmus. She was found to have bilateral chorioretinal atrophic scars and 2 large occipital porencephalic cavities. High plasma ornithine levels led to the presumed diagnosis of gyrate atrophy of the choroid and retina. After 6 months of arginine-restricted diet and high-dose pyridoxine (300 mg/d), there was no change of plasma ornithine level or ocular findings. To our knowledge, this is the first report showing an association of porencephaly with gyrate atrophy of the choroid and retina.
Inglese
Rigante, D., Savastano, M. C., Leone, A., Falsini, B., Baldascino, A., La Torraca, I., Lepore, D., Sacco, E., De Nisco, A., Minnella, A. M., Occipital porencephaly in a child with gyrate atrophy of the choroid and retina., <>, 2010; 2010 (14(5)): 462-464 [http://hdl.handle.net/10807/3680]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/3680
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