Congenital muscular dystrophy with cerebral white matter hypodensity. Correlation of clinical features and merosin deficiency

Brain and Development

Volumn 18, Issue 1, 1996, Pages 53-58

  Reed, Umbertina C ^a   Marie, Suely K ^a   Vainzof, Mariz ^a   Salum, Paulo B ^a   Levy, José Antonio ^a   Zatz, Mayana ^a   Diament, Aron ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Cerebral white matter hypodensity; Congenital muscular dystrophy; Merosin; Non Fukuyama type; Occidental type cerebro muscular dystrophy

Indexed keywords

CREATINE KINASE; MEROSIN;

ARTICLE; BRAZIL; CLINICAL ARTICLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; FACE DYSMORPHIA; FEMALE; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; INTELLIGENCE; MALE; MOTOR DYSFUNCTION; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PRESCHOOL CHILD; WHITE MATTER;

EID: 0030062621     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/0387-7604(95)00095-X     Document Type: Article

References (37)

1. Fenichel GM. Congenital muscular dystrophies. Neurol Clin 1988; 6: 519-28.
2. Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type. Clinical, genetic and pathological considerations. Brain Dev (Tokyo) 1981; 3: 1-29.
3. Leyten QH, Gabreëls FJM, Renier WO, Ter Laak HJ, Sengers RCA, Mullaart RA. Congenital muscular dystrophy. J Pediatr 1989; 115: 214-21.
4. Nonaka I, Chou SM. Congenital muscular dystrophy. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology. Vol 41. Amsterdam: North Holland, 1979: 27-50.
5. Echenne B, Arthuis M, Billard C, et al. Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile. J Neurol Sci 1986; 75: 7-22.
6. nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993. Neuromusc Disord 1994; 4: 75-81.
7. Castro-Gago M, Peña-Guitián J. Congenital muscular dystrophy of a non-Fukuyama type with characteristic CT images (letter). Brain Dev (Tokyo) 1988; 10: 60.
8. Topaloglu H, Yalaz K, Renda Y, et al. Occidental type cerebromuscular dystrophy: a report of eleven cases. J Neurol Neurosurg Psychiatry 1991; 54: 226-9.
9. Topaloglu H, Kale G, Yalnizoglu D, et al. Analysis of 'pure' congenital muscular dystrophies in thirty-eight cases. How different is the classical type 1 from the occidental type cerebromuscular dystrophy? Neuropediatrics 1994; 25: 94-100.
10. Tanaka J, Mimaki T, Okada S, Fujimura H. Changes in cerebral white matter in a case of congenital muscular dystrophy (non-Fukuyama type). Neuropediatrics 1989; 21: 183-6.
11. Yoshioka M, Kuroki S, Mizue H. Congenital muscular dystrophy of non-Fukuyama type with characteristic CT images. Brain Dev (Tokyo) 1987; 9: 316-8.
12. Pihko H, Louhimo T, Valanne L, Donner M. CNS in congenital muscular dystrophy without mental retardation. Neuropediatrics 1992; 23: 116-20.
13. Trevisan CP, Carollo C, Segalla P, Angelini C, Drigo P, Giordano R. Congenital muscular dystrophy: brain alterations in an unselected series of Western patients. J Neurol Neurosurg Psychiatry 1991; 54: 330-4.
14. Cook JD, Gascon GG, Haider A, et al. Congenital muscular dystrophy with abnormal radiographic myelin pattern. J Child Neurol 1992; 7 (suppl): S51-63.
15. Leyten QH, Ter Laak HJ, Gabreëls FJM, Renier WO, Renkawek K, Sengers RCA. Congenital muscular dystrophy. A study on the variability of morphological changes and dystrophin distribution in muscle biopsies. Acta Neuropathol (Berl) 1993; 86: 386-92.
16. Kao KP, Lin KP. Congenital muscular dystrophy of a non-Fukuyama type with white matter hyperlucency on CT scan. Brain Dev (Tokyo) 1992; 14: 420-2.
17. Yoshioka M. Congenital muscular dystrophy of a non-Fukuyama type with characteristics CT images (letter reply). Brain Dev (Tokyo) 1988; 10: 60.
18. Echenne B. Congenital muscular dystrophy of a non-Fukuyama type (letter). Brain Dev (Tokyo) 1988; 10: 397.
19. Oliveira ASB, Gabbai AA, Kiyomoto BH, Schmidt B. Distrofia muscular congênita. Apresentação de oito casos com evidência de comprometimento do SNC. Rev Paul Med 1990; 108: 139-41.
20. Bernier JP, Brooke MH, Naidich TP, Carroll JE. Myoencephalopathy: cerebral hypomyelination revealed by CT scan of the head in a muscle disease. Trans Am Neurol Assoc 1979; 104: 244-6.
21. Nucci A. Distrofia muscular congênita. Variações fenotípicas em 27 casos. Tese. Faculdade de Ciências Médicas da Universidade Estadual de Campinas/SP, 1993.
22. Egger J, Kendall BE, Erdohazi M, Lake BD, Wilson J, Brett EM. Involvement of the central nervous system in congenital muscular dystrophies. Dev Med Child Neurol 1983; 25: 32-42.
23. Kimura S, Sasaki Y, Kobayashi T, et al. Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. Brain Dev (Tokyo) 1993; 15: 182-91.
24. Laverda AM, Battaglia MA, Drigo P, et al. Congenital muscular dystrophy, brain and eye abnormlalities: one or more clinical entities?. Childs Nerv Syst 1993; 9: 84-7.
25. Di Rocco M, Leveratto L, Cama A, et al. Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy. Genet Couns 1993; 4: 295-8.
26. Okudaira Y, Bandoh K, Wachi A, Sato K, Osawa M. A case of congenital muscular dystrophy associated with hydrocephalus-CSF dynamics and surgical treatment (in Japanese). No To Hattatsu (Tokyo) 1994; 26: 57-62.
27. Olive M, Sirvent J, Ferrer I. Congenital muscular dystrophy with distinct CNS involvement. Neuropediatrics 1994; 25: 48-50.
28. Parano E, Fiumara A, Falsaperla R, Vita G, Trifiletti RR. Congenital muscular dystrophy: correlation of muscle biopsy and clinical features. Pediatr Neurol 1994; 10: 233-6.
29. Yoshioka M, Kuroki S, Nigami H, Kawai T, Nakamura H. Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy. Brain Dev (Tokyo) 1992; 14: 334-7.
30. Toda T, Segawa M, Nomura Y, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q 31-33. Nature Genet 1993; 5: 283-6.
31. Matsumura K, Nonaka I, Campbell KP. Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet 1993; 341 (8844): 521-2.
32. Hayashi YK, Engwall E, Arikawa-Hirasawa E, Goto K, Koga R, Nonaka I. Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci 1993; 119: 53-64.
33. Tomé, FMS, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci (Paris) 1994; 317: 351-7.
34. Hillaire D, Leclerc A, Fauré S, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994; 3: 1657-61.
35. Vuolteenaho R, Nissinen M, Sainio K, et al. Human laminin M chain (merosin): complete primary structure, chromosomal assignment and expression of the M and A chain in human fetal tissue. J Cell Biol 1994; 124: 381-94.
36. Aihara M, Tanabe Y, Kato K. Serial MRI in Fukuyama type congenital muscular dystrophy. Neuroradiology 1992; 34: 396-8.
37. Yoshioka M, Saiwai S. Congenital muscular dystrophy (Fukuyama type) - Changes in the white matter low density on CT. Brain Dev (Tokyo) 1988; 10: 41-4.