title: Long-term follow-up of neurological manifestations in a boy with incontinentia pigmenti.
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.
authors: Child Neuropsychiatry Unit, Department of General Medicine, Neuroscience and Sensory Organs, "Aldo Moro" University of Bari, Piazza Giulio Cesare 1, Bari, Italy. lucia.margari@uniba.it
authors: Lucia
authors: L
authors: Margari
authors: Anna Linda
authors: AL
authors: Lamanna
authors: Maura
authors: M
authors: Buttiglione
authors: Francesco
authors: F
authors: Craig
authors: Maria G
authors: MG
authors: Petruzzelli
authors: Vanessa
authors: V
authors: Terenzio
mesh_terms: D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000209:etiology*; D002648:Child; D004827:Epilepsy / Q000175:diagnosis / Q000209:etiology*; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007184:Incontinentia Pigmenti / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009030:Mosaicism
chemical_list: D005819:Genetic Markers; C491731:IKBKG protein, human; D051550:I-kappa B Kinase
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