Related Experiment Videos
[Neonatal convulsions caused by incontinentia pigmenti with left opercular dysgenesia]
M C Carrascosa Romero1, R Ruiz Cano, C Medina Monzón
1Complejo Hospitalario Universitario de Albacete, Albacete, España. rruiz@servitel.es
Insights
Incontinentia Pigmenti (IP) is a rare genetic disorder. This case highlights a unique cause of neonatal seizures linked to IP, involving focal brain malformations not previously associated with the condition.
Area of Science:
- Genetics
- Neurology
- Dermatology
Context:
- Incontinentia Pigmenti (IP), also known as Bloch Sulzberger syndrome, is a rare genetic multisystemic neuroectodermic disorder.
- It is an X-linked dominant disorder with low incidence, typically lethal in males.
- Recent research identifies mutations in the NEMO gene as the cause of IP.
Purpose:
- To review current knowledge on the etiopathogenesis of Incontinentia Pigmenti (IP).
- To discuss the occurrence and causes of neonatal convulsions in IP.
- To present a case of neonatal IP with associated neurological findings.
Summary:
- The case involves a female infant presenting with unilateral neonatal seizures.
- Neuroimaging revealed left perisylvian focal dysgenesis, a finding not previously reported in association with IP.
- The study reviews the genetic basis and clinical manifestations of IP, including its link to neonatal neurological complications.
Impact:
- This case expands the understanding of neurological manifestations in Incontinentia Pigmenti.
- It highlights the importance of neuroimaging in diagnosing the cause of neonatal seizures in IP patients.
- The findings contribute to the broader knowledge of neurocutaneous syndromes and their genetic underpinnings.
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 multisystemic 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) and q28 (IP 2) regions of the X chromosome. It has recently been discovered that the cause lies in a mutation of a 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 opercular syndrome) observed in the computerised axial tomography (CAT scan), has not been reported up to the present associated with IP.