Incontinentia pigmenti with encephalocele in a neonate: A rare association

Journal of Child Neurology

Volumn 24, Issue 4, 2009, Pages 495-499

  Demirel, Nihal ^a   Aydin, Mustafa ^a   Zenciroglu, Aysegul ^a   Okumus, Nurullah ^a   Tekgunduz, Serafettin Kadir ^a   Ipek, Mehmet Sah ^a   Boduroglu, Esin ^a  

^a DR SAMI ULUS CHILDREN S HOSPITAL   (Turkey)

Author keywords

Encephalocele; Incontinentia pigmenti; Magnetic resonance imaging; Neonate

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; ECHOGRAPHY; ECTODERM; ENCEPHALOCELE; FEMALE; FOLLOW UP; GENETIC COUNSELING; GENODERMATOSIS; HISTOPATHOLOGY; HUMAN; INCONTINENTIA PIGMENTI; MESODERM; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT REFERRAL; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RARE DISEASE; SKIN BIOPSY; SKIN DEFECT; X CHROMOSOME LINKED DISORDER;

BRAIN; ECTODERM; ECTODERMAL DYSPLASIA; ENCEPHALOCELE; FEMALE; HUMANS; INCONTINENTIA PIGMENTI; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MENINGES; NEURAL TUBE DEFECTS; SKIN; SKULL; ULTRASONOGRAPHY, DOPPLER, TRANSCRANIAL;

EID: 64249117503     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808324774     Document Type: Article

References (15)

1. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. 1993;30:53-59.
2. Ehrenreich M., Tarlow MM, Godlewska-Janusz E., Schwartz RA Incontinentia pigmenti (Bloch-Sulzberger syndrome): A systemic disorder. Cutis. 2007;79:355-362.
3. Aydingoz U., Midia M. Central nervous system involvement in incontinentia pigmenti: Cranial MRI of two siblings. Neuro-radiology. 1998;40:364-366.
4. Okan F., Yapici Z., Bulbul A. Incontinentia pigmenti mimicking a herpes simplex virus infection in the newborn. Childs Nerv Syst. 2008;24:149-151.
5. Shah SN, Gibbs S., Upton CJ, Pickworth FE, Garioch JJ Incontinentia pigmenti associated with cerebral palsy and cerebral leukomalacia: A case report and literature review. Pediatr Dermatol. 2003;20:491-494.
6. Berlin AL, Paller AS, Chan LS Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002;47:169-187.
7. Aradhya S., Courtois G., Rajkovic A., et al. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet. 2001;68:765-771.
8. Silan F., Aydogan I., Kavak A., Bardaro T., D'Urso M. Incontinentia pigmenti with NEMO mutation in a Turkish family. Int J Dermatol. 2004;43:527-529.
9. Cohen BA Incontinentia pigmenti. Neurol Clin. 1987;5:361-377.
10. Catalano RA Incontinentia pigmenti. Am J Ophthalmol. 1990;110:696-700.
11. Pascual-Castroviejo I., Pascual-Pascual SI, Velazquez-Fragua R., Martinez V. Incontinentia pigmenti: Clinical and neuroimaging findings in a series of 12 patients. Neurologia. 2006;21:239-248.
12. Witczak M., Ferenc T., Wilczyński J. Pathogenesis and genetics of neural tube defects. Ginekol Pol. 2007;78:981-985.
13. Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom (Kyoto). 2006;46:55-67.
14. Li Y., Chen X., Zhao X., Hu B. Relationship between homocysteine-induced apoptosis and teratogenesis in developing avian embryo. Wei Sheng Yan Jiu. 1999;28:275-278.
15. Lian Q., Dheen ST, Liao D., Tay SS Enhanced inflammatory response in neural tubes of embryos derived from diabetic mice exposed to a teratogen. J Neurosci Res. 2004;75:554-564.