Neurological findings in incontinentia pigmenti; a review

European Journal of Medical Genetics

Volumn 55, Issue 5, 2012, Pages 323-331

  Meuwissen, Marije E C ^a   Mancini, Grazia M S ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Incontinentia pigmenti; Ischemic stroke; Seizures; White matter disease

Indexed keywords

ANTIBIOTIC AGENT; CORTICOSTEROID;

ACUTE DISSEMINATED ENCEPHALOMYELITIS; ADOLESCENCE; ANTIBIOTIC THERAPY; APOPTOSIS; BRAIN; BRAIN HEMORRHAGE; BRAIN INJURY; BRAIN ISCHEMIA; CATARACT; CEREBELLAR ATAXIA; CEREBELLUM HYPOPLASIA; CEREBROVASCULAR DISEASE; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONJUNCTIVITIS; CORPUS CALLOSUM AGENESIS; DISEASE ASSOCIATION; DRUG MEGADOSE; EYE; HISTOPATHOLOGY; HUMAN; INCONTINENTIA PIGMENTI; INFANTILE SPASM; MENINGOCOCCOSIS; MICROPHTHALMIA; NEUROIMAGING; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPTIC NERVE ATROPHY; PERIVENTRICULAR HETEROTOPIA; PHENOTYPE; RETINA VASCULITIS; REVIEW; RISK FACTOR; SEIZURE; SKIN BIOPSY; SUBCORTICAL HETEROTOPIA; WHITE MATTER;

BRAIN; EYE ABNORMALITIES; HUMANS; INCIDENCE; INCONTINENTIA PIGMENTI; INTELLECTUAL DISABILITY; MICROCEPHALY; PARALYSIS; PHENOTYPE; PSYCHOMOTOR DISORDERS; SEIZURES;

EID: 84862163171     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.04.007     Document Type: Review

References (61)

1. Buinauskaite E., Buinauskiene J., Kucinskiene V., Strazdiene D., Valiukeviciene S. Incontinentia pigmenti in a male infant with Klinefelter syndrome: a case report and review of the literature. Pediatr. Dermatol. 2010, 27:492-495.
2. Fusco F., Fimiani G., Tadini G., Michele D., Ursini M.V. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J. Am. Acad. Dermatol. 2007, 56:264-267.
3. Berlin A.L., Paller A.S., Chan L.S. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J. Am. Acad. Dermatol. 2002, 47:169-187. quiz 188-190.
4. Hadj-Rabia S., Froidevaux D., Bodak N., Hamel-Teillac D., Smahi A., Touil Y., Fraitag S., de Prost Y., Bodemer C. Clinical study of 40 cases of incontinentia pigmenti. Arch. Dermatol. 2003, 139:1163-1170.
5. Landy S.J., Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J. Med. Genet. 1993, 30:53-59.
6. Smahi A., Courtois G., Vabres P., Yamaoka S., Heuertz S., Munnich A., Israel A., Heiss N.S., Klauck S.M., Kioschis P., Wiemann S., Poustka A., Esposito T., Bardaro T., Gianfrancesco F., Ciccodicola A., D'Urso M., Woffendin H., Jakins T., Donnai D., Stewart H., Kenwrick S.J., Aradhya S., Yamagata T., Levy M., Lewis R.A., Nelson D.L. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000, 405:466-472.
7. Fusco F., Bardaro T., Fimiani G., Mercadante V., Miano M.G., Falco G., Israel A., Courtois G., D'Urso M., Ursini M.V. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. Hum. Mol. Genet. 2004, 13:1763-1773.
8. Carney R.G. Incontinentia pigmenti. A world statistical analysis. Arch. Dermatol. 1976, 112:535-542.
9. Phan T.A., Wargon O., Turner A.M. Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. Clin. Exp. Dermatol. 2005, 30:474-480.
10. Abe S., Okumura A., Hamano S., Tanaka M., Shiihara T., Aizaki K., Tsuru T., Toribe Y., Arai H., Shimizu T. Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy. Brain Dev. 2011, 33:28-34.
11. Hennel S.J., Ekert P.G., Volpe J.J., Inder T.E. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr. Neurol. 2003, 29:148-150.
12. Shuper A., Bryan R.N., Singer H.S. Destructive encephalopathy in incontinentia pigmenti: a primary disorder?. Pediatr. Neurol. 1990, 6:137-140.
13. Wolf N.I., Kramer N., Harting I., Seitz A., Ebinger F., Poschl J., Rating D. Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation. AJNR Am. J. Neuroradiol. 2005, 26:1580-1582.
14. Cartwright M.S., White D.L., Miller L.M., Roach E.S. Recurrent stroke in a child with incontinentia pigmenti. J. Child. Neurol. 2009, 24:603-605.
15. Fiorillo L., Sinclair D.B., O'Byrne M.L., Krol A.L. Bilateral cerebrovascular accidents in incontinentia pigmenti. Pediatr. Neurol. 2003, 29:66-68.
16. Lee A.G., Goldberg M.F., Gillard J.H., Barker P.B., Bryan R.N. Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging. Arch. Pediatr. Adolesc. Med. 1995, 149:573-580.
17. Maingay-de Groof F., Lequin M.H., Roofthooft D.W., Oranje A.P., de Coo I.F., Bok L.A., van der Spek P.J., Mancini G.M., Govaert P.P. Extensive cerebral infarction in the newborn due to incontinentia pigmenti. Eur. J. Paediatr. Neurol. 2008, 12:284-289.
18. Kasai T., Kato Z., Matsui E., Sakai A., Nishida T., Kondo N., Taga T. Cerebral infarction in incontinentia pigmenti: the first report of a case evaluated by single photon emission computed tomography. Acta Paediatr. 1997, 86:665-667.
19. Pellegrino R.J., Shah A.J. Vascular occlusion associated with incontinentia pigmenti. Pediatr. Neurol. 1994, 10:73-74.
20. Lee J.H., Im S.A., Chun J.S. Serial changes in white matter lesions in a neonate with incontinentia pigmenti. Childs Nerv Syst. 2008, 24:525-528.
21. Brunquell P.J. Recurrent encephalomyelitis associated with incontinentia pigmenti. Pediatr. Neurol. 1987, 3:174-177.
22. Matsumoto N., Takahashi S., Toriumi N., Sarashina T., Makita Y., Tachibana Y., Fujieda K. Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti. Brain Dev. 2009, 31:625-628.
23. Aydingoz U., Midia M. Central nervous system involvement in incontinentia pigmenti: cranial MRI of two siblings. Neuroradiology 1998, 40:364-366.
24. Bryant S.A., Rutledge S.L. Abnormal white matter in a neurologically intact child with incontinentia pigmenti. Pediatr. Neurol. 2007, 36:199-201.
25. Chatkupt S., Gozo A.O., Wolansky L.J., Sun S. Characteristic MR findings in a neonate with incontinentia pigmenti. AJR Am. J. Roentgenol. 1993, 160:372-374.
26. Demirel N., Aydin M., Zenciroglu A., Okumus N., Tekgunduz K.S., Ipek M.S., Boduroglu E. Incontinentia pigmenti with encephalocele in a neonate: a rare association. J. Child. Neurol. 2009, 24:495-499.
27. Godambe S., McNamara P., Rajguru M., Hellmann J. Unusual neonatal presentation of incontinentia pigmenti with persistent pulmonary hypertension of the newborn: a case report. J. Perinatol. 2005, 25:289-292.
28. Hart A.R., Edwards C., Mahajan J., Wood M.L., Griffiths P.D. Destructive encephalopathy in incontinentia pigmenti. Dev. Med. Child. Neurol. 2009, 51:162-163.
29. Hubert J.N., Callen J.P. Incontinentia pigmenti presenting as seizures. Pediatr. Dermatol. 2002, 19:550-552.
30. Kaczala G.W., Messer M.A., Poskitt K.J., Prendiville J.S., Gardiner J., Senger C. Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: a case report, literature review and insight into pathogenesis. Eur. J. Pediatr. 2008, 167:979-983.
31. Leung A.K., Kao C.P., Robson W.L. Incontinentia pigmenti in an infant. J. Pediatr. 2006, 149:138.
32. Loh N.R., Jadresic L.P., Whitelaw A. A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation. Acta Paediatr. 2008, 97:379-381.
33. Lou H., Zhang L., Xiao W., Zhang J., Zhang M. Nearly completely reversible brain abnormalities in a patient with incontinentia pigmenti. AJNR Am. J. Neuroradiol. 2008, 29:431-433.
34. Mangano S., Barbagallo A. Incontinentia pigmenti: clinical and neuroradiologic features. Brain Dev. 1993, 15:362-366.
35. Obermann M., Weber R. Concomitant diagnosis of sarcoidosis and incontinentia pigmenti in an epileptic patient. Eur. J. Neurol. 2008, 15:e36-37.
36. Porksen G., Pfeiffer C., Hahn G., Poppe M., Friebel D., Kreuz F., Gahr M. Neonatal seizures in two sisters with incontinentia pigmenti. Neuropediatrics 2004, 35:139-142.
37. Shah S.N., Gibbs S., Upton C.J., Pickworth F.E., Garioch J.J. Incontinentia pigmenti associated with cerebral palsy and cerebral leukomalacia: a case report and literature review. Pediatr. Dermatol. 2003, 20:491-494.
38. Turkmen M., Eliacik K., Temocin K., Savk E., Tosun A., Dikicioglu E. A rare cause of neonatal seizure: incontinentia pigmenti. Turk J. Pediatr. 2007, 49:327-330.
39. Yoshikawa H., Uehara Y., Abe T., Oda Y. Disappearance of a white matter lesion in incontinentia pigmenti. Pediatr. Neurol. 2000, 23:364-367.
40. Vento M., de Vries L.S., Alberola A., Blennow M., Steggerda S., Greisen G., Boronat N. Approach to seizures in the neonatal period: a European perspective. Acta Paediatr. 2010, 99:497-501.
41. Rouhl R.P., van Oostenbrugge R.J., Knottnerus I.L., Staals J.E., Lodder J. Virchow-Robin spaces relate to cerebral small vessel disease severity. J. Neurology 2008, 255:692-696.
42. Cohen H.L., Sloves J.H., Laungani S., Glass L., DeMarinis P. Neurosonographic findings in full-term infants born to maternal cocaine abusers: visualization of subependymal and periventricular cysts. J. Clin. Ultrasound 1994, 22:327-333.
43. Kapur R.P., Shaw C.M., Shepard T.H. Brain hemorrhages in cocaine-exposed human fetuses. Teratology 1991, 44:11-18.
44. Govaert P. Prenatal stroke. Semin. Fetal Neonatal. Med. 2009, 14:250-266.
45. Volpe J.J. Brain injury in premature infants: a complex amalgam of destructive and developmental disturbances. Lancet Neurology 2009, 8:110-124.
46. O'Doherty N.J., Norman R.M. Incontinentia pigmenti (Bloch-Sulzberger syndrome) with cerebral malformation. Dev. Med. Child. Neurol. 1968, 10:168-174.
47. Golden J.A., Harding B.N. Cortical malformations: unfolding polymicrogyria. Nat. Rev. Neurol. 2010, 6:471-472.
48. Hauw J.J., Perie G., Bonnette J., Escourolle R. Les lesions cerebrales de l'incontinentia pigmenti. A propos d'un cas anatomique. Acta Neuropathol. 1977, 38:159-162.
49. Schmidt-Supprian M., Bloch W., Courtois G., Addicks K., Israel A., Rajewsky K., Pasparakis M. NEMO/IKK gamma-deficient mice model incontinentia pigmenti. Mol. Cell 2000, 5:981-992.
50. Nelson D.L. NEMO, NFkappaB signaling and incontinentia pigmenti. Curr. Opin. Genet. Dev. 2006, 16:282-288.
51. Sebban H., Courtois G. NF-kappaB and inflammation in genetic disease. Biochem. Pharmacol. 2006, 72:1153-1160.
52. Wu Z.H., Shi Y., Tibbetts R.S., Miyamoto S. Molecular linkage between the kinase ATM and NF-kappaB signaling in response to genotoxic stimuli. Sci. New York, N.Y 2006, 311:1141-1146.
53. Biton S., Barzilai A., Shiloh Y. The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle. DNA Repair 2008, 7:1028-1038.
54. Mavrou A., Tsangaris G.T., Roma E., Kolialexi A. The ATM gene and ataxia telangiectasia. Anticancer Research 2008, 28:401-405.
55. Mattson M.P., Camandola S. NF-kappaB in neuronal plasticity and neurodegenerative disorders. J. Clinical Investigation 2001, 107:247-254.
56. Makris C., Godfrey V.L., Krahn-Senftleben G., Takahashi T., Roberts J.L., Schwarz T., Feng L., Johnson R.S., Karin M. Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Mol. Cell 2000, 5:969-979.
57. Courtois G., Smahi A. NF-kappaB-related genetic diseases. Cell Death Differ. 2006, 13:843-851.
58. Oster S.F., McLeod D.S., Otsuji T., Goldberg M.F., Lutty G.A. Preliminary ocular histopathological observations on heterozygous NEMO-deficient mice. Exp. Eye Res. 2009, 88:613-616.
59. Takano T., Akahori S., Takeuchi Y., Ohno M. Neuronal apoptosis and gray matter heterotopia in microcephaly produced by cytosine arabinoside in mice. Brain Res. 2006, 1089:55-66.
60. Fitzgerald M.P., Covio M., Lee K.S. Disturbances in the positioning, proliferation and apoptosis of neural progenitors contribute to subcortical band heterotopia formation. Neuroscience 2011, 176:455-471.
61. Poulton C.J., Schot R., Kia S.K., Jones M., Verheijen F.W., Venselaar H., de Wit M.C., de Graaff E., Bertoli-Avella A.M., Mancini G.M. Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. Am. J. Hum. Genet. 2011, 89:265-276.