Cerebellar atrophy in schimke-immuno-osseous dysplasia

American Journal of Medical Genetics, Part A

Volumn 143, Issue 17, 2007, Pages 2040-2045

  Lücke, Thomas ^a   Clewing, Johanna M ^b   Boerkoel, Cornelius F ^c   Hartmann, Hans ^a   Das, Anibh M ^a   Knauth, Michael ^d   Becker, Hartmut ^a   Donnerstag, Frank ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Cerebellar atrophy; Ischemia; Schimke immuno osseous dysplasia; Vaso occlusive disease; White matter

Indexed keywords

CYCLOSPORIN; FUROSEMIDE; NIFEDIPINE; PREDNISOLONE; PROPRANOLOL;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; BRAIN ISCHEMIA; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GLOMERULOSCLEROSIS; HEMIFACIAL MICROSOMIA; HEMIPLEGIA; HEMISPHERE; HUMAN; IMMUNE DEFICIENCY; KIDNEY FAILURE; KIDNEY GRAFT; MALE; MOYAMOYA DISEASE; NEPHROTIC SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PERITONEAL DIALYSIS; PES EQUINUS; PRIORITY JOURNAL; SCHIMKE IMMUNO OSSEOUS DYSPLASIA; SYSTEMIC DISEASE; ABSENCE OF CEREBELLAR HEMISPHERE; ABSENCE OF CEREBELLAR VERMIS; AGENESIS; BRAIN ATROPHY; CLINICAL FEATURE; DISEASE SEVERITY; GROWTH DISORDER; SCHIMKE IMMUNOOSSEOUS DYSPLASIA; STROKE; SYMPTOMATOLOGY; TRANSIENT ISCHEMIC ATTACK; VASCULAR DISEASE; WHITE MATTER;

ADOLESCENT; ADULT; ATROPHY; BONE DISEASES, DEVELOPMENTAL; BRAIN ISCHEMIA; CEREBELLUM; CHILD; DNA HELICASES; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; NEPHROTIC SYNDROME;

EID: 34548297809     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31878     Document Type: Article

References (33)

1. Barkovich A, editor. 2005. Pediatric Neuroimaging. Philadelphia: Lippincott Raven. p 165-167.
2. Bartynski WS, Grabb BC, Zeigler Z, Lin L. Andrews DF. 1997. Watershed imaging features and clinical vascular injury in cyclosporin A neurotoxicity. J Comput Assist Tomogr 21:872-880.
3. Boerkoel CF, Nowaczyk MJ, Blaser SI, Meschino WS, Weksberg R. 1998. Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. Am J Med Genet 78:118-122.
4. Boerkoel CF, O'Neill S, Andre JL, Benke PJ, Bogdanovic R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Frund S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormala T, Rener-Primec Z, Santava A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R. 2000. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 159:1-7.
5. Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, Andre JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Frund S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. 2002. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet 30:215-220.
6. Clewing JM, Lücke T, Elizondo LI, Deguchi K, DA. A, Boerkoel CF. 2005. SIOD-Associated Vascular Disease: Towards Understanding the Pathophysiology. Dallas, Texas.
7. Clewing JM, Antalfy BC, Lücke T, Najafian B, Marwedel KM, Hori A, Powel RM Jr, Do AF, Najera L, Santacruz K, Hicks MJ, Armstrong DL, Boerkoel CF. 2007. Schimke immuno-osseous dysplasia: A clinicopathological correlation. J Med Genet 44:122-130.
8. Courchesne E, Press GA, Murakami J, Berthoty D, Grafe M, Wiley CA, Hesselink JR. 1989. The cerebellum in sagittal plane - Anatomic-MR correlation. 1. The vermis. Am J Neuroradiol 10:659-665.
9. De Marcos FA, Ghizoni E, Kobayashi E, Li LM, Cendes F. 2003. Cerebellar volume and long-term use of phenytoin. Seizure 12:312-315.
10. Dhillon AS, Chapman S, Milford DV. 2001. Cerebellar defect associated with Schimke immuno-osseous dysplasia. Eur J Pediatr 160:372-374.
11. Ehrich JH, Burchert W, Schirg E, Krull F, Offner G, Hoyer PF, Brodehl J. 1995. Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia. Clin Nephrol 43:89-95.
12. Ehrich JH, Offner G, Schirg E, Hoyer PF, Helmchen U, Brodehl J. 1990. Association of spondylo-epiphyseal dysplasia with nephrotic syndrome. Pediatr Nephrol 4:117-121.
13. Elizondo LI, Huang C, Northrop JL, Deguchi K, Clewing JM, Armstrong DL, Boerkoel CF. 2006. Schimke immuno-osseous dysplasia: A cell autonomous disorder? Am J Med Genet Part A 140A:340-348.
14. Gilchrist DM, Harley FL. 1992. Schimke immuno-osseous dysplasia. J Pediatr 120:497.
15. Hashimoto K, Takeuchi A, Ieshima A, Takada M, Kasagi M. 1994. Juvenile variant of Schimke immunoosseous dysplasia. Am J Med Genet 49:266-269.
16. Johnsen SD, Bodensteiner JB, Lotze TE. 2005. Frequency and nature of cerebellar injury in the extremely premature survivor with cerebral palsy. J Child Neurol 20:60-64.
17. Kilic SS, Donmez O, Sloan EA, Elizondo LI, Huang C, Andre JL, Bogdanovic R, Cockfield S, Cordeiro I, Deschenes G, Frund S, Kaitila I, Lama G, Lamfers P, Lucke T, Milford DV, Najera L, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Stajic N, Stein A, Taha D, Wand D, Armstrong D, Boerkoel CF. 2005. Association of migraine-like headaches with Schimke immuno-osseous dysplasia. Am J Med Genet Part A 135A: 206-210.
18. Lou S, Lamfers P, McGuire N, Boerkoel CF. 2002. Longevity in Schimke immuno-osseous dysplasia. J Med Genet 39:922-925.
19. Lücke T, Kemper M, Neumaier-Probst E, Bentele K, Spranger J, Kohlschutter A. 1999. Das Moya-Moya-Phänomen bei der Immuno-Ossären Dysplasie Schimke. p 904.
20. Lücke T, Marwedel KM, Kanzelmeyer NK, Hori A, Offner G, Kreipe HH, Ehrich JH, Das AM. 2004. Generalized atherosclerosis sparing the transplanted kidney in Schimke disease. Pediatr Nephrol 19:672-675.
21. Lücke T, Billing H, Sloan EA, Boerkoel CF, Franke D, Zimmering M, Ehrich JH, Das AM. 2005a. Schimke-immuno-osseous dysplasia: New mutation with weak genotype-phenotype correlation in siblings. Am J Med Genet Part A 135A:202-205.
22. Lücke T, Ehrich JH, Das AM. 2005b. Mitochondrial function in Schimke-immunoosseous dysplasia. Metab Brain Dis 20:237-242.
23. Lücke T, Kanzelmeyer N, Franke D, Hartmann H, Ehrich JH, Das AM. 2006a. Schimke immuno-osseous dysplasia. A pediatric disease reaches adulthood. Med Klin (Munich) 101:208-211.
24. Lücke T, Tsikas D, Kanzelmeyer NK, Boerkoel CF, Clewing JM, Vaske B, Ehrich JH, Das AM. 2006b. Vaso-occlusion in Schimke-immuno-osseous dysplasia: Is the NO pathway involved? Horm Metab Res 38:678-682.
25. Messerschmidt A, Brugger PC, Boltshauser E, Zoder G, Sterniste W, Birnbacher R, Prayer D. 2005. Disruption of cerebellar development: Potential complication of extreme prematurity. Am J Neuroradiol 26:1659-1667.
26. Patel S, Barkovich AJ. 2002. Analysis and classification of cerebellar malformations. Am J Neuroradiol 23:1074-1087.
27. Press GA, Murakami J, Courchesne E, Berthoty DP, Grafe M, Wiley CA, Hesselink JR. 1989. The cerebellum in sagittal plane - Anatomic-MR correlation. 2. The cerebellar hemispheres. Am J Neuroradiol 10:667-676.
28. Press GA, Murakami JW, Courchesne E, Grafe M, Hesselink JR. 1990. The cerebellum. 3. Anatomic-MR correlation in the coronal plane. Am J Neuroradiol 11:41-50.
29. Sargent MA, Poskitt KJ, Roland EH, Hill A, Hendson G. 2004. Cerebellar vermian atrophy after neonatal hypoxic-ischemic encephalopathy. Am J Neuroradiol 25:1008-1015.
30. Schmidt B, Christen HJ, Herkenrath P, Benz-Bohm G, Muller-Berghaus J, Querfeld U. 1997. Cerebral complications in Schimke immuno-osseous dysplasia. Eur J Pediatr 156:789-791.
31. Soto-Ares G, Vinchon M, Delmaire C, Abecidan E, Dhellemes P, Pruvo JP. 2001. Cerebellar atrophy after severe traumatic head injury in children. Childs Nerv Syst 17:263-269.
32. Spranger J, Hinkel GK, Stoss H, Thoenes W, Wargowski D, Zepp F. 1991. Schimke immuno-osseous dysplasia: A newly recognized multisystem disease. J Pediatr 119:64-72.
33. Trullemans F, Grignard F, Van Camp B, Schots R. 2001. Clinical findings and magnetic resonance imaging in severe cyclosporine-related neurotoxicity after allogeneic bone marrow transplantation. Eur J Haematol 67:94-99.