Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease

European Journal of Ophthalmology

Volumn 12, Issue 4, 2002, Pages 253-261

  Zervos, A ^a   Hunt, K E ^a   Tong, H Q ^a   Avallone, J ^a   Morales, J ^a   Friedman, N ^a   Cohen, B H ^a   Clark, B ^a   Guo, S ^a   Gazda, H ^a   Beggs, A H ^a   Traboulsi, Elias I ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Chromosome 1; Congenital glaucoma; Congenital muscular dystrophy; Muscle Eye Brain Disease; Ocular pathology; Optic nerve hypoplasia; Retinal hypoplasia

Indexed keywords

ARTICLE; BRAIN DISEASE; CASE REPORT; CHOROID DISEASE; CHROMOSOME 1P; CONGENITAL GLAUCOMA; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; EYE DISEASE; FEMALE; GENE LOCUS; GENE MAPPING; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MUSCLE DISEASE; MUSCLE EYE BRAIN DISEASE; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; OPTIC NERVE DISEASE; PRIORITY JOURNAL; RETINA DISEASE; SIBLING; STRABISMUS; WALKER WARBURG SYNDROME;

EID: 0036657371     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.1177/112067210201200401     Document Type: Article

References (29)

1. Fukuyama Y. Congenital muscular dystrophies: An update. J Child Neurol 1999; 14: 28-30.
2. Leyten QH, Gabreels FJM, Reiner WO, Ter Laak HJ. Congenital muscular dystrophy: A review of the literature. Clin Neurol Neurosurg 1996; 98: 267-80.
3. Cormand B, Avela K, Pihko H, et al. Assignment of the Muscle-Eye-Brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. Am J Hum Genet 1999; 64: 126-135.
4. Batten FE. Three cases of myopathy, infantile type. Brain 1903; 26: 147-8.
5. Howard R. A case of congenital defect of the muscular system (dystrophia muscularis congenita) and its association with congenital talipes equino-varus. Proc R Soc Lond B Biol Sci 1908; 1: 157-66.
6. Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type. Clinical, genetic and pathological considerations. Brain Dev 1981; 3: 1-29.
7. Santavuori P, Leisti J, Kruus S. Muscle, eye and brain disease: a new syndrome. Neuropediatrics 1977; 8 (Suppl): S550.
8. Raitta C, Lamminen M, Santavuori P, Leisti J. Ophthalmological findings in a new syndrome with muscle, eye and brain involvement. Acta Ophthalmol 1978; 56: 465-72.
9. Warburg M. The heterogeneity of microphthalmia in the mentally retarded. Birth Defects 1971; 7: 136-54.
10. Warburg M. Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold. Am J Ophthalmol 1978; 85: 88-94.
11. Walker AE. Lissencephaly. Arch Neurol Psychiatr 1942; 48: 13-29.
12. Pagon RA, Clarren S. HARD ± E: Warburg's syndrome (letter). Arch Neurol 1981; 38: 66.
13. Pagon RA, Clarren S, Millam DF, Hedrickson AE. Autosomal recessive eye and brain anomalies: Warburg syndrome. J Pediatr 1983; 102: 542-6.
14. Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL. Syndromes with lissencephaly. Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. Am J Med Genet, 1985; 22: 157-95.
15. Santavuori P, Somer H, Sainio K, Rapola J, et al. Muscleeye-brain disease. Brain Dev 1989; 11: 147-53.
16. Dubowitz V, Fardeau M. Workshop report: 27th ENMC Sponsored Workshop on Congenital Muscular Dystrophy, Nederlands, 22-24 April 1994. Neuromuscul Disord 1995; 5: 253-8.
17. Heggie P, Grossniklaus HE, Roessmann U, Chou SM, Cruse RP. Cerebro-ocular dysplasia-muscular dystrophy syndrome: report of two cases. Arch Ophthalmol 1987; 105: 520-24.
18. Dubowitz V. Workshop report: 22nd ENMC Sponsored Workshop on Congenital Muscular Dystrophy held in Baarn, Nederlands, 14-16 May 1993. Neuromuscul Disord 1994; 4: 75-81.
19. Voit T. Congenital Muscular Dystrophies: 1997 update. Brain Dev 1998; 20: 65-74.
20. Squarzoni S, Villanova M, Sabatelli P, et al. Intracellular detection of laminin α2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and laminin α2 deficient subjects. Neuromuscul Disord 1997; 7: 91-8.
21. Tan E, Topaloglou H, Sewry C, et al. Late onset muscular dystrophy with cerebral white muscle changes due to partial merosin deficiency. Neuromuscul Disord 1997; 7: 85-89.
22. Allamand V, Sunada Y, Salih M, et al. Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2-chain. Hum Mol Genet 1997; 6: 747-52.
23. Sewry CA, Philpot J, Sorokin LM, et al. Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by ski biopsy. Lancet 1996; 347: 582-4.
24. Rehany U, Segal ZI, Rumelt S. Congenital buphthalmos in Walker-Warburg syndrome: a clinicopathological study. Eye 1999; 13: 778-80.
25. Dobyns WB, Pagon RA, Armstrong D, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989; 32: 195-210.
26. Williams RS, Swisher CN, Jennings M, Ambler M, Cavines VS Jr. Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis. Neurology 1984; 34: 1531-41.
27. Haltia M, Leivo I, Somer H, et al. Muscle-eye-brain disease: A neuropathological study. Ann Neurol 1997; 41: 173-80.
28. Voit T, Sewry CA, Meyer K, et al. Preserved merosin Mchain (or laminin-α2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. Neuropediatrics 1995; 26: 148-55.
29. Cormand B, Pihko H, Bayes M, et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 2001; 56: 1059-69.