Convulsiones neonatales por incontinencia pigmenti con disgenesia opercular izquierda

Aims. In this paper we review the main publications on incontinentia pigmenti (IP) and the current knowledge of the etiopathogenesis of the disease and of the convulsions in the neonatal period, by considering a clear case of neonatal IP, with skin, eye, brain and bone lesions. Case report. Our patient, a female, started with clonic seizures in the right half of the body at the age of three days. Method. IP, or Bloch-Sulzberger syndrome, is a genetic multiqystemic neuroectodermic disorder. It is a disease of low incidence (1% of all neuroectodermic disorders) which is transmitted by means of a pattern of dominant inheritance linked to X, and is lethal in males, except in rare cases of somatic mosaicism and Klinefelter. In the family forms the gene is located in the p11 (IP 1) andq28 (IP 2) regions of the X chromosome. It has recently been discovered that the cause lies in a mutation ofa gene called NEMO (IKK-gamma). Together with Bourneville 's tuberous sclerosis it is the only neurocutaneous syndrome that can begin with neonatal convulsions. The convulsions start on the second or third day of life and are often limited to a single side of the body, although it can also appear as encephalitis. The origin of the convulsions has been linked with recurring encephalomyelitis, or with an alteration of the neuronal migration. Conclusions. The cause of the early convulsions in our patient, which we put down to a left perisylvian focal dysgenesia (unilateral opercularsyndrome) observed in the computerised axial tomography (CA Tscan), has not been reported up to the present associated with IP.