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Neuropediatrics 2004; 35(2): 139-142
DOI: 10.1055/s-2004-815837
Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Neonatal Seizures in Two Sisters with Incontinentia Pigmenti

G. Pörksen1 , C. Pfeiffer2 , G. Hahn3 , M. Poppe1 , D. Friebel1 , F. Kreuz4 , M. Gahr1
  • 1Children's Hospital, Technical University Dresden, Dresden, Germany
  • 2Department of Dermatology, Technical University Dresden, Dresden, Germany
  • 3Department of Child Radiology, Technical University Dresden, Dresden, Germany
  • 4Institute of Clinical Genetics, Technical University Dresden, Dresden, Germany
Further Information

Publication History

Received: November 19, 2003

Accepted after Revision: December 16, 2003

Publication Date:
04 May 2004 (online)

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Abstract

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.

Key words

Neonatal seizures - incontinentia pigmenti - magnetic resonance imaging (MRI)

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Dr. Gönke Pörksen

Children's Hospital
Technical University Dresden

Fetscherstraße 74

01307 Dresden

Germany

Email: gpoerksen@web.de

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