| Neonatal seizures in two sisters with incontinentia pigmenti. | |
| | |
MedLine Citation:
|
PMID: 15127315 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Familial incontinentia pigmenti (IP) (OMIM #308300) is a rare genetic disorder which segregates in an X-linked dominant way. The female-to-male ratio ranges from 20 to 37 : 1. In affected females IP causes highly variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system (CNS). Cardiovascular anomalies, cerebral infarction, and immune dysfunction are rare complications of IP. The pathogenesis of cerebral changes in IP remains elusive. We report the case of two IP-affected sisters who presented in each case with neonatal seizures on the fifth day of life. Via cranial magnetic resonance tomographic imaging (MRI) different types of lesions in both hemispheres were demonstrable in both patients. To date the pathogenetic mechanisms for the cerebral lesions are not fully understood. However, multiple microscopic infarcts could serve as a possible explanation. The clinical course and the neurological development of the older child are favorable and so far the younger sibling appears to be developing normally, which is uncommon for patients with early onset of neurological symptoms. Symptomatic seizures in IP are an important differential diagnosis in benign non-familial and familial neonatal seizures. |
| | |
Authors:
|
G Pörksen; C Pfeiffer; G Hahn; M Poppe; D Friebel; F Kreuz; M Gahr |
Related Documents
:
|
17029345 - Utility of computed tomography perfusion in detection of cerebral vasospasm in patients... 8333575 - Isolated pontine lesion in algid cerebral malaria: clinical features, management, and m... 1167205 - Cerebral infarction diagnosis by computerized tomography. analysis and evaluation of fi... 8229245 - Cerebral vasodilatory capacity mapping using technetium-99m-dtpa-hsa spect and acetazol... 22528895 - Classification of human coronary atherosclerotic plaques using ex vivo high-resolution ... 15174805 - Intermittent torsion of a wandering spleen in a child: the role of mri in diagnosis. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Neuropediatrics Volume: 35 ISSN: 0174-304X ISO Abbreviation: Neuropediatrics Publication Date: 2004 Apr |
Date Detail:
|
Created Date: 2004-05-05 Completed Date: 2004-07-20 Revised Date: 2008-01-16 |
Medline Journal Info:
|
Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: Germany |
Other Details:
|
Languages: eng Pagination: 139-42 Citation Subset: IM |
Affiliation:
|
Children's Hospital, Technical University Dresden, Dresden, Germany. gpoerksen@web.de |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Brain
/
pathology,
physiopathology Female Humans Incontinentia Pigmenti / genetics*, pathology Infant, Newborn Pedigree Seizures / congenital*, pathology Siblings |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Acquired torticollis due to Grisel's syndrome: case report and follow-up of non-traumatic atlantoaxi...
Next Document: Acute haemorrhagic encephalomyelitis (AHEM): MRI findings.