Abstract
Immunocytochemical analysis of the laminin alpha-2 (merosin) chain in the muscle of patients with Classic Congenital Muscular Dystrophy (Cl-CMD) differentiates the types of the disease associated with a merosin deficit from those that are merosin positive. Patients with Central Nervous System involvement in merosin negative Cl-CMD always present alterations of the white matter at RMI, but usually these are not clinically significant. While ocular malformations (microphthalmia, alterations of the anterior chamber, of the retina, or of the angle and cataract) and damage to the Central Nervous System are described in some subtypes of CMD (Muscle Eye Brain disease, Walker Warburg Syndrome), ocular involvement and retino-cortical conduction in merosin negative Cl-CMD are not well known. This study reports on four patients affected by merosin negative Cl-CMD. All these patients presented important alterations of the white matter associated with ventricular enlargement and, in one case, with pachygyria and micropolygyria. Refraction, visual acuity, ocular motility, anterior segment and fundus were examined. ERG Maximal, Cone and Rod response, VEP transient pattern reversal was carried out as well. Significant alterations at the standard ophthalmologic examination or of the electroretinogram responses were not registered while, in all cases, important modifications in retino cortical conduction (reduction in amplitude, increase in latency, reduction in amplitude on the lateral derivations) were observed, demonstrating involvement of the optic pathway at different levels during the course of this disease.
Similar content being viewed by others
References
Fukuyama Y, Kawazura M, Haruna H. A peculiar form of congenital progressive muscular dystrophy. Report of 15 cases. Pediatr Univ. Tokyo (Tokyo) 1960; 4, 5–8.
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.
Santavuori P, Leisti J, Kruus S. Muscle, eye and brain disease: a new syndrome. Neuropediatrics 1977; 8 (suppl): 553–8.
Santavuori P, Somer H, Sainio K, et al. Muscle-eye-brain disease (MEB). Brain Dev. (Tokyo) 1989; 11: 147–53.
Williams R, Swister C, Jennings M, Ambler M, Caviness V. Cerebro-ocular dysgenesis (Walker-Warburg syndrome) neuropathologic and aetiologic analysis. Neurology 1984; 34: 1531–41.
Walker AE. Lissencephaly. Arch. Neurol. Psychiatry 1942; 48: 13–20.
Dobyns W, Pagon R, Armstrong D, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med. Genet 1989; 32: 195–210.
Dubowitz V. Workshop report. 22nd ENMC sponsored workshop on congenital muscular dystrophy, Baarn, The Netherlands, 14-16 May 1993. Neuromusc. Disord. 1994; 4: 75–81.
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.
Tomé FMS, Evangelista T, Leclerc A et al. Congenital muscular dystrophy with merosin deficiency. CR Acad. Sci (Paris) /Life Sci 1994; 317: 351–7.
Dubowitz V. Exciting new developments in CMD. In: Fukuyama Y. Osawa M., Saito K.eds. Congenital muscular dystrophies. Amsterdam: Elsevier 1997: 21–30. 138
Villanova M, Malandrini A, Sabatelli P, Sewry CA, Toti P, Torelli S, Six J, Scarfo G, Palma L, Muntom F, Squarzoni F, Tosi P, Marladi NM, Guazzi OC. Localisation of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study. Acta Neuropathologica. Dec 1997; 94(6): 567–71.
Kamiguchi H, Hlavin ML, Yamasaki M, Lemmon V. Adhesion molecules and inherited diseases of human nervous system. Annual Review of Neuroscience 1998; 21: 97–125.
Sewry CA, Uzijel Y, Torelli S, Buchanan S, Sorokin L, Cohen J, Watt DJ. Differential labelling of laminin alpha 2 in muscle and neural tissue of dy/dy mice: are there isoforms of the laminin alpha 2 chain? Neuropathology and applied neurobiology Feb 1998; 24 (1): 66–72.
Vuolteenaho R, Nissien M, Sainio K et al. Human lamininMChain (merosin): complete primary structure, chromosomal assignment and expression of the M and A chains in human foetal tissue. Cell Biol 1994; 124: 381–94.
Fardeau MP, Tome FMS, Dubowitz V, Hillaire D. Lifting the lid on congenital muscular dystrophy. Presented at the 8th International Congress on Neuromuscular Disease, Kyoto, 1994.
Trevisan CP, Martinello F, Fanin M, Carollo C, Pen P, Angelini C, Drigo P, Laverda AM, Mostacciuolo ML, Tormene AP, Fardeau M, Tome FMS. Longitudinal evaluation of leukoencephalopathy in congenital muscular dystrophy: data on a heterogeneous series of western cases. In Y Fukuyama, M Osawa and K Saito (eds.), Congenital Muscular Dystrophies, Elsevier Science B.V. (Amsterdam, The Netherlands) 1997, pp 137–45.
Fardeau MP, Tome FMS. Clinical and immunological evidence of heterogeneity in classical (occidental) congenital muscular dystrophy. In: Fukuyama Y, Osawa M, Saito K, eds. Congenital muscular dystrophies. Amsterdam: Elsevier 1997; 79–87.
Martinello F, Angelini C, Trevisan CP. Congenital Muscular Dystrophy with partial merosin deficiency and late onset epilepsy. Eur Neurol 1998; 40: 37–45.
Leyten QH, Gabreels M, Reiner WO, Renkawek K, der Laak HJ, Mullart RA. Congenital muscular dystrophy with eye and brain malformations in six Dutch patients. Neuropediatrics 1992; 23: 316–20.
Pihko H, Santavuori P. Muscle-eye-brain (MEB) disease - a review. In: Fukuyama Y, Osawa M, Saito K, eds. Congenital Muscular Dystrophies, 1997. Elsevier Science, 99–104.
Mercuri E, Muntoni F, Bernardinelli A, Pennock J, Sewry C, Philpot J, Dubowitz V.Somatosensory and Visual Evoked Potentials in Congenital Muscular Dystrophy: Correlation with MRI Changes and Muscle Merosin Status. Neuropediatrics 1995; 26: 3–7.
Rights and permissions
About this article
Cite this article
Tormene, A.P., Trevisan, C., Martinello, F. et al. Alterations of the retino-cortical conduction in patients affected by Classical Congenital Muscular Dystrophy (Cl-CMD) with merosin deficiency. Doc Ophthalmol 98, 127–138 (1999). https://doi.org/10.1023/A:1002093705611
Issue Date:
DOI: https://doi.org/10.1023/A:1002093705611