Chiari type I malformation in four unrelated patients affected with Fabry disease

European Journal of Medical Genetics

Volumn 49, Issue 5, 2006, Pages 419-425

  Germain, Dominique P ^a   Benistan, Karelle ^a   Halimi, Philippe ^a  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Chiari type I malformation; Fabry disease; Genetics

Indexed keywords

ALPHA GALACTOSIDASE; ANTITHROMBOCYTIC AGENT;

ADULT; ANAMNESIS; ARNOLD CHIARI MALFORMATION; ARTICLE; CASE FINDING; CASE STUDY; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DIPLOPIA; DISEASE ASSOCIATION; DIZZINESS; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; GENETIC PREDISPOSITION; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; SYMPTOMATOLOGY; TRANSIENT ISCHEMIC ATTACK; UNSTEADINESS;

ADULT; ARNOLD-CHIARI MALFORMATION; FABRY DISEASE; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED;

EID: 33749252898     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.01.007     Document Type: Article

References (40)

1. Angle B., Yen F., Hersh J.H., and Gowans G. Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome. Am J Med Genet A 116 (2003) 376-380
2. Battistella P.A., Perilongo G., and Carollo C. Neurofibromatosis type 1 and type I Chiari malformation: an unusual association. Childs Nerv. Syst. 12 (1996) 336-338
3. Bird T.D., and Lagunoff D. Neurological manifestations of Fabry disease in female carriers. Ann. Neurol. 4 (1978) 537-540
4. Braca J., Hornyak M., and Murali R. Hemifacial spasm in a patient with Marfan syndrome and Chiari I malformation. Case report. J. Neurosurg. 103 (2005) 552-554
5. Caldemeyer K.S., Boaz J.C., Wappner R.S., Moran C.C., Smith R.R., and Quets J.P. Chiari 1 malformation: association with hypophosphatemic rickets and MR imaging appearance. Radiology 195 (1995) 733-738
6. Campbell C.G., Wang H., and Hunter G.W. Interstitial microdeletion of chromosome 1p in two siblings. Am. J. Med. Genet. 111 (2002) 289-294
7. Chaudhuri A. Painful arm in syringomyelia and Fabry disease. Q. J. Med. 97 (2004) 241-242
8. Ciprero K.L., Clayton-Smith J., Donnai D., Zimmerman R.A., Zackai E.H., and Ming J.E. Symptomatic Chiari I malformation in Kabuki syndrome. Am. J. Med. Genet. A 132 (2005) 273-275
9. Dickerman R.D., Lefkowitz M., Arinsburg S.A., and Schneider S.L. Chiari malformation and odontoid panus causing craniovertebral stenosis in a child with Crouzon's syndrome. J. Clin. Neurosci. 12 (2005) 964-967
10. Dooley J., Vaughan D., Riding M., and Camfield P. The association of Chiari type I malformation and neurofibromatosis type 1. Clin. Pediatr. (Phila.) 32 (1993) 189-190
11. Eng C.M., Guffon N., Wilcox W.R., Germain D.P., Lee P., Waldeck S., et al. Safety and efficacy of recombinant human a-galactosidase A-replacement therapy in Fabry's disease. N. Engl. J. Med. 345 (2001) 9-16
12. Eng C.M., Wilcox W.R., Waldek S., Linhorst G.E., Germain D.P., Scott C.R., Breunig F., Charrow J., and Banikazemi M. Fabry Disease: Delineating the Natural History of the Disorder Through the Fabry Registry. Arch. Intern. Med. (2006) (in press)
13. Fujisawa H., Hasegawa M., Kida S., and Yamashita J. A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia. J. Neurosurg. 97 (2002) 396-400
14. Germain D.P. A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. Contrib. Nephrol. 136 (2001) 234-240
15. Germain D.P., Avan P., Chassaing A., and Bonfils P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med. Genet. 3 (2002) 10
16. Giustini S., Richetta A., Divona L., Faiola R., Trasimeni G., Pezza M., et al. Neurofibromatosis type I and Arnold-Chiari malformation. J. Eur. Acad. Dermatol. Venereol. 16 (2002) 180-181
17. Greally M.T., Carey J.C., Milewicz D.M., Hudgins L., Goldberg R.B., Shprintzen R.J., et al. Sphrintzen-Goldberg syndrome. A clinical analysis. Am. J. Med. Genet. 76 (1998) 202-212
18. Hamilton J., Chitayat D., Blaser S., Cohen I., Phillips J., and Daneman D. Familial growth hormone deficiency associated with MRI abnormalities. Am. J. Med. Genet. 80 (1998) 128-132
19. Holder-Espinasse M., and Winter R.M. Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?. Clin. Dysmorphol. 12 (2003) 275
20. Hultman C.S., Riski J.E., Cohen S.R., Burstein F.D., Boydston W.R., Hudgins R.J., et al. Chiari malformation, cervical spine anomalies, and neurologic defects in velocardiofacial syndrome. Plast. Reconstr. Surg. 106 (2000) 16-24
21. McGaughran J., Aftimos S., Jefferies C., and Winship I. Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand. Clin. Dysmorphol. 10 (2001) 257-262
22. Mercuri E., Atkinson J., Braddick O., Rutherford M.A., Cowan F.M., Counsell S.J., et al. Chiari I malformation in asymptomatic young children with Williams syndrome: clinical and MRI study. Eur. J. Paediatr. Neurol. 1 (1997) 177-181
23. Mesiwala A.H., Shaffrey C.I., Gruss J.S., and Ellenbogen R.G. Atypical hemifacial microsomia associated with Chiari I malformation and syrinx: further evidence indication that Chiari I malformation is a disorder of the paraxial mesoderm. Case report and review of the literature. J. Neurosurg. 95 (2001) 1034-1039
24. Milhorat T.H., Chou M.W., Trinidad E.M., Kula R.W.W., Mandell M., Wolpert C., et al. Chiari I malformation redefined: clinical, radiographic, and genetic features in 364 patients. Neurosurgery 44 (1999) 1005-1017
25. Mitsias P., and Levine S.L. Cerebrovascular complications of Fabry's disease. Ann. Neurol. 40 (1996) 8-17
26. Moore D.F., Scott L.T., Gladwin M.T., Altarescu G., Kaneski C., Suzuki K., et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 104 (2001) 1506-1512
27. Moore D.F., Altarescu G., Ling G.S., Jeffries N., Frei K.P., Weibel T., et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 33 (2002) 525-531
28. Moore D.F., Ye F., Schiffmann R., and Butman J.A. Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am. J. Neuroradiol. 24 (2003) 1096-1101
29. Paquis V., Lonjon M., Brunet M., Lambert J.C., and Grellier P. Chiari type I malformation and syringomyelia in unrelated patients with blepharophimosis. J. Neurosurg. 89 (1998) 835-838
30. Pober B.R., and Filiano J.J. Association of Chiari I malformation and Williams syndrome. Pediatr. Neurol. 12 (1995) 84-88
31. Rusbridge C., and Knowler S.P. Hereditary aspects of occipital bone hypoplasia and syringomyelia (Chiari type I malformation) in cavalier King Charles spaniels. Vet. Rec. 153 (2003) 107-112
32. Rusbridge C., and Knowler S.P. Inheritance of occipital bone hypoplasia (Chiari type I malformation) in Cavalier King Charles Spaniels. J. Vet. Intern. Med. 18 (2004) 673-678
33. Sawin P.D., and Menezes A.H. Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias. J. Neurosurg. 86 (1997) 950-960
34. Schiffmann R., Kopp J.B., Austin H.A., Sabnis S., Moore D.F., Weibel T., et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285 (2001) 2743-2749
35. Schimmenti L.A., Shim H.H., Wirtschafter J.D., Panzarino V.A., Kashtan C.E., Kirkpatrick S.J., et al. Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-colobomal syndrome. Hum. Mutat. 14 (1999) 369-376
36. Speer M.C., Enterline D.S., Mehltretter L., Hammock P., Joseph J., Dickerson M., et al. Chiari type I malformation with or without syringomyelia: prevalence and genetics. J. Genet. Couns. 12 (2003) 297-311
37. Tubbs R.S., McGirt M.J., and Oakes W.J. Surgical experience in 130 pediatric patients with Chiari I malformations. J. Neurosurg. 99 (2003) 291-296
38. Tubbs R.S., Rutledge S.L., Kosentka A., Bartolucci A.A., and Oakes W.J. Chiari I malformation and neurofibromatosis type 1. Pediatr. Neurol. 30 (2004) 278-280
39. Vari R., Puca A., and Meglio M. Cleidocranial dysplasia and syringomyelia. Case report. J. Neurosurg. Sci. 40 (1996) 125-128
40. Wilcox W.R., Banikazemi M., Guffon N., Waldek S., Lee P., Linthorst G.E., et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry's disease. Am. J. Hum. Genet. 75 (2004) 65-74