Pigmentary Mosaicism, Subcortical Band Heterotopia, and Brain Cystic Lesions

Pediatric Neurology

Volumn 40, Issue 5, 2009, Pages 383-386

  Ruggieri, Martino ^a   Roggini, Mario ^b   Spalice, Alberto ^b   Addis, Maria ^c   Iannetti, Paola ^b  

^a INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN CYST; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; DISEASE ASSOCIATION; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; LOWE SYNDROME; MALE; MOSAICISM; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SKIN DISCOLORATION; SUBCORTICAL HETEROTOPIA;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; ABNORMALITIES, MULTIPLE; BRAIN; CHILD; CLASSICAL LISSENCEPHALIES AND SUBCORTICAL BAND HETEROTOPIAS; DIAGNOSIS, DIFFERENTIAL; HUMANS; HYPOPIGMENTATION; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MOSAICISM; MOTHERS; MUSCULOSKELETAL ABNORMALITIES; NEUROPEPTIDES; OCULOCEREBRORENAL SYNDROME; PHENOTYPE; PHOSPHORIC MONOESTER HYDROLASES; SYNDROME;

EID: 64549091412     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2008.11.006     Document Type: Article

References (27)

1. Blaschko A. Der Nervenverteilung in der Haut in ihrer Beziehung zu den Erkrankungen der Haut (1901), Wilhelm Braumuller, Vienna
2. Bolognia J.L., Orlow S.J., and Glick S.A. Lines of Blaschko. J Am Acad Dermatol 31 (1994) 157-190
3. Happle R. Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol 129 (1993) 1460-1470
4. Taibjee S.M., Bennett D.C., and Moss C. Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes. Br J Dermatol 151 (2004) 269-282
5. Pascual-Castroviejo I., and Ruggieri N. Hypomelanosis of Ito and related disorders (pigmentary mosaicism). In: Ruggieri M., Pascual-Castroviejo I., and Di Rocco C. (Eds). Neurocutaneous disorders: phakomatoses and hamartoneoplastic syndromes (2008), Springer Verlag, Vienna, New York 363-385
6. Pascual-Castroviejo I., López Rodriguez L., de la Cruz Medina M., Salamanca-Maesso C., and Roche Herrero C. Hypomelanosis of Ito: neurological complications in 34 cases. Can J Neurol Sci 15 (1988) 124-129
7. Ruiz-Maldonado R., Toussaint S., Tamayo L., Laterza A., and del Castillo V. Hypomelanosis of Ito: diagnostic criteria and report of 41 cases. Pediatr Dermatol 9 (1992) 1-10
8. Ruggieri M., and Pavone L. Hypomelanosis of Ito: clinical syndrome or just phenotype?. J Child Neurol 15 (2000) 635-644
9. Happle R. Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue. Am J Med Genet 19;79:64-65.
10. Sybert V.P. Hypomelanosis of Ito: a description, not a diagnosis. J Invest Dermatol 103 5 Suppl (1994) 141S-143S
11. Ruggieri M, Pavone L. Hypomelanosis of Ito. In: Gilman S, editor. MedLink Neurology [Internet]. San Diego: MedLink Corporation. Updated 27 January 2007. Available at: http://www.medlink.com.
12. D'Agostino M.D., Bernasconi A., Das S., et al. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain 125 (2002) 2507-2522
13. Addis M., Loi M., Lepiani C., Cau M., and Melis M.A. OCRL mutations in Italian patients with Lowe syndrome. Hum Mutat 23 (2004) 524-525
14. Barkovich A.J., Kuzniecky R.I., Jackson G.D., Guerrini R., and Dobyns W.B. A developmental and genetic classification for malformations of cortical development. Neurology 65 (2005) 1873-1887
15. Hennekam R.C., and Barth P.G. Syndromic cortical dysplasia: a review. In: Barth P.G. (Ed). Disorders of neuronal migration. International Review of Child Neurology Series (2003), MacKeith Press, London 135-169
16. Palmini A., Najm I., Avanzini G., et al. Terminology and classification of the cortical dysplasias. Neurology 62 Suppl 3 (2004) S2-S8
17. Guerrini R., Dobyns W.B., and Barkovich A.J. Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci 31 (2008) 154-162
18. Fox J.W., and Walsh C.A. Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex. Am J Hum Gen 65 (1999) 19-24
19. In: Winter R.M., and Baraitser M. (Eds). Winters-Baraitser dysmorphology database. London Medical Database Series [computer program]. Electronic version 1.0.15 (2008), London Medical Databases, London
20. Sicca F., Silengo M., Parrini E., Ferrero G.B., and Guerrini R. Subcortical band heterotopia with simplified gyral pattern and syndactyly. Am J Med Genet A 119A (2003) 207-210
21. Rossi M., Guerrini R., Dobyns W.B., Andria G., and Winter R.M. Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. Neuropediatrics 34 (2003) 287-292
22. Federico A., Tomasetti P., Zollino M., et al. Association of trisomy and 9p band heterotopia. Neurology 53 (1999) 430-432
23. Golden J.A., and Schoene W.C. Central nervous system malformations in trisomy 9p. J Neuropathol Exp Neurol 52 (1993) 71-77
24. Berg M.J., Schifitto G., Powers J.M., et al. X-linked female band heterotopia-male lissencephaly syndrome. Neurology 59 (1988) 1143-1146
25. Taybi H. Lowe syndrome. In: Taybi H., and Lachman R.S. (Eds). Radiology of syndromes, metabolic disorders, and skeletal dysplasias (1996), Mosby, St. Louis 651-653
26. Schneider J.F., Boltshauser E., Neuhaus T.J., Rauscher C., and Martin E. MRI and proton spectroscopy in Lowe syndrome. Neuropediatrics 32 (2001) 45-48
27. Van der Knaap M.S., and Valk J. Selective vulnerability. Magnetic resonance of myelination and myelin disorders. 3rd ed. (2005), Springer-Verlag, Berlin 25-36