Long-term follow-up of neurological manifestations in a boy with incontinentia pigmenti

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...

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Bibliographic Details
Published in:European journal of pediatrics 2013-09, Vol.172 (9), p.1259-1262
Main Authors: Margari, Lucia, Lamanna, Anna Linda, Buttiglione, Maura, Craig, Francesco, Petruzzelli, Maria G., Terenzio, Vanessa
Format: Article
Language:English
Subjects:
Age
Ataxia
Cerebellar Ataxia - diagnosis
Cerebellar Ataxia - etiology
Child
Convulsions & seizures
Electroencephalography
Epilepsy
Epilepsy - diagnosis
Epilepsy - etiology
Genetic Markers
Genetic Testing
Humans
I-kappa B Kinase - genetics
Incontinentia Pigmenti - complications
Incontinentia Pigmenti - diagnosis
Incontinentia Pigmenti - genetics
Magnetic resonance imaging
Male
Males
Medicine
Medicine & Public Health
Mosaicism
Nervous system
Pediatrics
Retinal detachment
Short Communication
Skin
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Description
Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-013-2021-8