Abstract
In the classical form of congenital muscular dystrophy (CMD), subclinical brain involvement is frequent. In order to establish the natural evolution of CNS alterations in this type of CMD, the cerebral functions of 12 cases were examined longitudinally for a mean period of 8 years. There were 7 boys and 5 girls, with a mean age of 5 years at first evaluation and 13 at the last one. Merosin expression in muscle fiber basement membrane, evaluated in 10 of them, was normal in 6 and deficient in 4. CNS conditions were followed up by repeated neuropsychiatric examinations, intelligence tests, EEG and brain CT scan and/or MRI. Eight of the 12 patients (including the 4 with merosin-deficiency) had normal intelligence, while 4 had mild to moderate mental retardation: in all the intellectual ability was unchanged during the follow-up study. CT scan detected minor brain alterations in 9 patients: 6 of these, the 4 with merosin deficiency and 2 others in whom merosin was not evaluated, presented leukoencephalopathy: on neuroimaging reappraisal it was unchanged in 3, improved in 2 and worse in 1 (a merosin-deficient case). Cerebellar alterations or mild ventricular dilatation were detected in 8 cases, including 3 merosin-non-deficient ones: these abnormalities were unchanged at the last study by CT and MRI, as were the normal neuroimaging findings observed in 3 other cases. Overall, during our study the brain alterations found in classical CMD showed a stationary or an improving course; progressive worsening was observed only in 1 of 4 merosin-deficient cases with leukoencephalopathy.
Similar content being viewed by others
References
Banker BQ (1994) Congenital myopathies. In: Engel AG, Franzini-Armstrong C (eds) Myology, vol 2. McGraw-Hill, New York, pp 1275–1289
Bernier SP, Brooke MH, Naidich TP, Carroll JE (1979) Myoencephalopathy: cerebral hypomyelination revealed by CT scan of the head in a muscle disease. Trans Am Neurol Assoc 104:204–246
Dubowitz V (1994) Congenital muscular dystrophy. In: Emery AEH (ed) Diagnostic criteria for neuromuscular disorders. ENMC, Baarn, pp 32–34
Dubowitz V, fardeau M (1995) Report on the 27th sponsored Workshop on Congenital Muscular Dystrophy, Baarn, The Netherlands, 22–24 April 1994. Neuromusc Disord 5:253–258
Echenne B, Arthuis M, Billard C, Campos-Castello J, Castel Y, Dulac O, Fontan D, Gauthier A, Kulakowski S, De Meuron G, Moore JR, Pages M, Parain D, Pavone L, Ponsot G (1986) Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Societé de Neurologie Infantile. J Neurol Sci 75:7–22
Egger J, Kendall BE, Erdohazi M, Lake BD, Wilson J, Brett EM (1983) Involvement of the central nervous system in congenital muscular dystrophies. Dev Med Child Neurol 25:32–42
Fardeau M (1994) Clinical and immunocytochemical evidence of heterogeneity in classical congenital muscular dystrophy. IN: Fukuyama Y (ed) Proceedings of the International Symposium on Congenital Muscular Dystrophies, Tokyo, 7–8 July 1994, p 5
Fukuyama Y, Kawazura M, Haruna M (1960) A peculiar form of congenital progressive muscular dystrophy. Report of fifteen cases. Paediatria Universitatis Tokyo 4:5–8
Gardner-Medwin D, Walton J (1994) The muscular dystrophies. In: Walton J, Karpati G, Hilton-Jones D (eds) Disorders of voluntary muscle. Churchill Livingstone, Edinburgh, pp 543–594
Hayashi YK, Engvall E, Arikawa-Hirasawa E, Goto K, Koga R, Nonaka I, Sugita H, Arahata K (1993) Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci 119:53–64
Hillaire D, Leclerc A, Fauré S, Topaloglu H, Chiannil M, Hulchar N, Guicheney P, Grinas L, Legos P, Tomé MS, Fardeau M (1994) Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 3:1657–1661
Mostacciuolo M, Miorin M, Martinello F, Perini P, Angelini C, Danieli GA, Trevisan CP (1996) Genetic epidemiology of congenital muscular dystrophy in a sample of North-East Italy. Hum Genet 97:277–279
Ranta S, Pihko H, Santavuori P, Tahvanainen E, De La Chapelle A (1995) Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. Neuromusc Disord 5:221–225
Santavuori P, Leist J, Kruus J (1977) Muscle, eye and brain disease. A new syndrome. Neuropediatri 8:550–553
Streib EW, Lucking CH (1989) Congenital muscular dystrophy with leukoencephalopathy. Eur Neurol 29:211–215
Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishiara T, Suzuki M, Tomita I, Origuchi Y, Ohno K, Fukuyama Y, Nakamura Y (1993) Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet 5:283–286
Tomé FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Fardeau M (1994) Congenital muscular dystrophy with merosin deficiency. CR Acad Sci Paris 317:351–357
Trevisan CP, Carollo C, Segalla P, Angelini C, Drigo P, Giordano R (1991) Congenital muscular dystrophy: brain alterations in an unselected series of Western patients. J Neurol Neurosurg Psychiatry 54:330–334
Trevisan CP, Martinello F, Ferruzza E, Angelini C (1995) Divergence of central nervous system involvement in two Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up. Eur Neurol 35:230–235
Trevisan CP, Martinello F, Fanin M, Pastorello E, Ottina M, Angelini C, Mostacciuolo ML, Tormene AP, Gigante C (1996) Merosin expression in muscle of Western cases with Fukuyama-like congenital muscular dystrophy. Basic Appl Myol 6:101–106
Author information
Authors and Affiliations
Additional information
Preliminary data on some of the patients have been presented at the International Symposium on Congenital Muscular Dystrophies, Tokyo, Japan, 7–8 July 1994
Rights and permissions
About this article
Cite this article
Trevisan, C.P., Martinello, F., Ferruzza, E. et al. Brain alterations in the classical form of congenital muscular dystrophy. Child's Nerv Syst 12, 604–610 (1996). https://doi.org/10.1007/BF00261655
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00261655