Abstract
Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis confined to females. It is usually lethal in males. However, the survival of some males has been reported in literature. We describe a long follow-up case of a 12-year-old male with IP and a normal karyotype but a genomic deletion of the NEMO gene in the Xq28 position in the form of somatic mosaicism. The patient showed severe ophthalmic abnormalities and neurological manifestations characterised by very mild cerebellar ataxia and a history of epilepsy that was severe at the beginning with West syndrome, become moderate overtime and is now resolved. Despite these neurological manifestations, probably related to the presence of at least some mutated cells in his brain, the long-term follow-up in this patient demonstrated good neurological and cognitive outcome.
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Margari, L., Lamanna, A.L., Buttiglione, M. et al. Long-term follow-up of neurological manifestations in a boy with incontinentia pigmenti. Eur J Pediatr 172, 1259–1262 (2013). https://doi.org/10.1007/s00431-013-2021-8
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DOI: https://doi.org/10.1007/s00431-013-2021-8