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- W207227427 abstract "In the past 10 years, 15 children with bilateral optic nerve hypoplasia have been studied at the Royal Alexandra Hospital for Children. There were 5 boys and 10 girls. Nine were first-born and they presented at a mean age of 5 months (range: 4 days to 25 months). Five presented with suspected blindness and 7 with abnormal eye movements (nystagmus or less commonly squint). The other 3 presented because of fits or developmental delay. Eight showed evidence of neural damage--microcephaly, seizures and/or abnormalities of tone. Four appeared to be of normal or near normal intelligence, 6 were mildly retarded and 5 severely so. Two patients had already died, one suddenly. Six of the 7 cases investigated in detail had evidence of hypothalamic pituitary dysfunction. Another one had a minimal hypothalamic abnormality. Four were severely growth retarded and 2 were receiving growth hormone replacement. Two males had micropenis and a girl had precocious puberty with partial diabetes insipidus. Neuroradiological investigations showed an absent septum pellucidum in only 5 cases. Five patients had other major CNS malformations. Five patients had normal CT scans; 3 of these 5 appeared of normal intelligence and all 5 had normal neurological examinations. Bilateral optic nerve hypoplasia is frequently associated with serious brain and endocrine abnormalities." @default.
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- W207227427 date "2020-02-02" @default.
- W207227427 modified "2023-10-18" @default.
- W207227427 title "Bilateral Optic Nerve Hypoplasia" @default.
- W207227427 doi "https://doi.org/10.32388/atup1x" @default.
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