Central nervous system dysmyelination in PIBI(D)S syndrome: a further case

1. Boltshauser E, Yalcinkaya C, Wichmann W, Reutter F, Prader A, Valavanis A (1989) MRI in Cockayne syndrome type I. Neuroradiology 31:276–277

   PubMed  Google Scholar 

2. Chen E, Price WH, Cleaver JE, Weber CA, Williams ML, Packman S, Golabi M (1993) Trichothiodystrophy: clinical spectrum and central nervous system imaging and biochemical and molecular characterization of two siblings. Abstracts, David W Smith Workshop on Malformations and Morphogenesis, Quebec, 1993, p 119

3. Crovato F, Borrone C, Rebora A (1984) The Tay syndrome (congenital ichthyosis with trichothiodystrophy) (letter). Eur J Pediatr 142:233–234

   PubMed  Google Scholar 

4. Dabbagh O, Swaiman KF (1988) Cockayne syndrome: MRI correlates of hypomyelination. Pediatr Neurol 4:113–116

   PubMed  Google Scholar 

5. Greenshaw GA, Hebert A, Duke Woodside ME, Buther IJ, Hecht JT, Cleaver JE, Thomas GH, Horton WA (1992) Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. Am J Hum Genet 50:677–689

   PubMed  Google Scholar 

6. Itin PH, Pittelkow MR (1990) Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias. J Am Acad Dermatol 22:705–717

   PubMed  Google Scholar 

7. Jackson CE, Weiss L, Watson JHL (1974) Brittle hair with short stature, intellectual impairment and decreased fertility. An autosomal recessive syndrome in an Amish kindred. Pediatrics 54:201–207

   PubMed  Google Scholar 

8. Jorizzo JL, Atherton DJ, Crounse RG, Wells RS (1982) Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). Br J Dermatol 106:705–710

   PubMed  Google Scholar 

9. King MD, Gummer CL, Stephenson JBP (1984) Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases. J Med Genet 21:286–289

   PubMed  Google Scholar 

10. Marinoni S, Trevisan G, Gaeta G, Not T, Lagomarsini P, Stefanini M, Nazzaro V, Ermacora E (1990) Trichothiodystrophy associated with group D xeroderma pigmentosum in seven Italian patients. Third Congress of the European Society of Paediatric Dermatology, Bordeaux 1990

11. McCuaig C, Marcoux D, Rasmussen JE, Werner MM, Gentner NE (1993) Trichothiodystrophy associated with photosensitivity, gonadal failure and striking osteosclerosis. J Am Acad Dermatol 28:820–826

    PubMed  Google Scholar 

12. Mimaki T, Tagawa T, Tanaka J, Sato K, Yabuuchi H (1989) EEG and CT abnormalities in xeroderma pigmentosum. Acta Neurol Scand 80:136–141

    PubMed  Google Scholar 

13. Nishio H, Kodama T, Matsuo M, Ichihashi M, Iro H, Fujiwara Y (1988) Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. J Inherit Metab Dis 11:88–102

    PubMed  Google Scholar 

14. Ohnishi A, Mitsudome A, Murai Y (1987) Primary segmental demyelination in the sural nerve in Cockayne's syndrome. Muscle Nerve 10:163–167

    PubMed  Google Scholar 

15. Peserico A, Battistella PA, Bertoli P (1992) MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S. Neuroradiology 34:316–317

    PubMed  Google Scholar 

16. Price VH, Odom RB, Ward WH, Jones FT (1980) Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol 116:1375–1384

    PubMed  Google Scholar 

17. Rebora A, Crovato F (1987) PIBI(D)S syndrome-trichothiodystrophy with xeroderma pigmentosum (group D) mutation. J Am Acad Dermatol 16:940–947

    PubMed  Google Scholar 

18. Robbins JH (1989) A childhood neurodegeneration due to defective DNA repair: a novel concept of disease based on studies of xeroderma pigmentosum. J Child Neurol 4:143–146

    PubMed  Google Scholar 

19. Robbins JH, Brumback RA, Mendiones M, Barret SF, Carl JR, Cho S, Denckla MB, Ganges MB, Gerber LH, Guthrie RA, Meer J, Moshell AN, Polinsky RJ, Ravin PD, Sonies BC, Tarone RE (1991) Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form. Brain 114:1335–1361

    PubMed  Google Scholar 

20. Robbins JH, Brumback RA, Moshell AN (1993) Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair. Eur Neurol 23:188–190

    Google Scholar 

21. Schmickel RD, Chu EHY, Trosko JE, Chang CC (1977) Cockayne syndrome: a cellular sensitivity to ultraviolet light. Pediatrics 60:135–139

    PubMed  Google Scholar 

22. Smits MG, Ter Laak HJ, Gabreels FJM, Pinkers AJL, Renier WO, Hombergen GCJ, Joosten EMG, Notermans SLH, Gabreels-Festen AAWM, Thijssen HOM (1982) Peripheral and central myelinopathy in Cockayne's syndrome: report of 3 siblings. Neuropediatrics 13:161–167

    PubMed  Google Scholar 

23. Soffer D, Grotsky W, Rapin I, Suzuki K (1979) Cockayne syndrome: unusual neuropathological findings and review of the literature. Ann Neurol 6:340–348

    PubMed  Google Scholar 

24. Stefanini M, Giliani S, Nardo T, Marinoni S, Nazzaro V, Rizzo R, Trevisan G (1992) DNA repair investigations in nine Italian patients affected by trichothiodystrophy. Mutat Res DNA Repair 273:119–125

    PubMed  Google Scholar 

25. Sung P, Bailly V, Weber C, Thompson LH, Prakash L, Prakash S (1993) Human xeroderma pigmentosum group D gene encodes a DNA helicase (letter). Nature 365:852–855

    PubMed  Google Scholar 

26. Taylor AMR, Harnden DG, Arlett CF, Harcourt SA, Lehmann AR, Stevens S, Bridges BA (1975) Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature 258:427–429

    PubMed  Google Scholar 

27. Van Neste D, Boré P (1983) Trichothiodystrophie: une étude morphologique et biochimique. Ann Dermatol Venereol 110:409–417

    PubMed  Google Scholar 

28. Van Neste DJ, Antoine JL, Vasseur F, Thomas P (1987) Tay's syndrome and xeroderma pigmentosum. Abstracts, Seventeenth World Congress of Dermatology, part 1, p 223, WS-18

Download references