title: Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: a case report, literature review and insight into pathogenesis.
abstract: METHODS
  A substance abusing G2P1 mother spontaneously delivered at term an appropriate for gestational age girl. Neonatal seizures appeared at 21 hours and empiric anticonvulsive and antimicrobial treatment was started. At 25 hours, first vesicles appeared. While routine evaluations remained normal, a head CT revealed multifocal ischemic injuries, and a later MRI showed multifocal petechiae and diffusion abnormalities in the corticospinal tracts. The clinical diagnosis of incontinentia pigmenti (stage 1) was secured by histopathology. Follow-up at 13 months showed global developmental delay.
  
  
  CONCLUSIONS
  We discuss the unusually early bilateral, fronto-occipital corticomedullar ischemias (CT day 3). On the MR imaging (day 7) extensive symmetric cerebral corticomedullar destruction and diffusion sequences with corticospinal tracts abnormalities are seen, which then evolve (day 26) to extensive symmetric cerebral destruction. We review the literature, genetics, suspected pathophysiology and possible neonatal manifestation.
  
  
  CONCLUSIONS
  Incontinentia pigmenti is rare and, therefore, diagnosis is frequently delayed. Nevertheless, in the setting of therapy refractory seizures, excluded infections, and linear vesicular rash, a high index of suspicion is needed. This is the first report of simultaneous corticomedullar involvement as early as the third day of life.
authors.affiliation: Department of Neonatology, Children's and Women's Health Center of British Columbia, Vancouver, BC, Canada. gregor.kaczala@insel.ch
authors.forename: Gregor W
authors.initials: GW
authors.lastname: Kaczala
authors.forename: Manuela A
authors.initials: MA
authors.lastname: Messer
authors.forename: Ken J
authors.initials: KJ
authors.lastname: Poskitt
authors.forename: Juliette S
authors.initials: JS
authors.lastname: Prendiville
authors.forename: Jane
authors.initials: J
authors.lastname: Gardiner
authors.forename: Christof
authors.initials: C
authors.lastname: Senger
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D005076:Exanthema / Q000150:complications*; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology*; D007231:Infant, Newborn; D010634:Phenobarbital / Q000627:therapeutic use; D011859:Radiography; D012640:Seizures / Q000150:complications* / Q000188:drug therapy
chemical_list: D000927:Anticonvulsants; D010634:Phenobarbital