Muscle, Eye and Brain Disease: A New Syndrome

Santavuori, Pirkko; Leisti, J; Kruus, S.

doi:10.1055/s-0028-1091594

Cited by 110 publications

(34 citation statements)

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“…Severe brain abnormalities similar to those found in FCMD are reported in the so-called MEB-D, a progres sive form of CMD [10] also characterized by dysplastic ocular alterations. A similar type of CMD has been described as the Walker-Warburg syndrome [11] or cere bro-ocular dysplasia and muscular dystrophy [12], Clini cal and pathological overlap of MEB-D and FCMD [11,14,21] and recent evidence in the same Japanese family of both these CMD forms [22] seem to indicate that they are very close nosographic entities [11,13,[21][22][23], Until recently, in Western countries cases of CCMD have been described as characteristically free from CNS involvement, aside from a possible presence of mild men tal retardation [1][2][3][4], However, in the late seventies and eighties, some cases of CCMD without clinical evidence of CNS involvement at neuroradiological level were found to have subclinical brain alterations [20,[24][25][26][27]].…”

Section: Discussionmentioning

confidence: 95%

“…Clinical evidence of severe or moderate mental retardation and epilepsy is instead characteristic of the Japanese form of CMD (FCMD) described by Fukuyama et al [6]. Recent ly, however, it has been pointed out that also the majority of patients with CCMD at neuroradiological level present signs of cerebral involvement that are often mild and without clinical significance [7][8][9], Apart from symptoms of muscular and cerebral involvement, patients affected by the so-called muscle-eye-brain disease (MEB-D) show also clinical evidence of ocular abnormalities [10]: this variant of CMD is similar to Walker-Warburg syndrome [11] or cerebro-ocular dysplasia-muscular dystrophy [12].…”

Section: Introductionmentioning

confidence: 99%

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Divergence of Central Nervous System Involvement in 2 Italian Sisters with Congenital Muscular Dystrophy: A Clinical and Neuroradiological Follow-Up

et al. 1995

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We report the clinical and neuroradiological follow-up of 2 Italian sisters, 10 and 6 years of age, affected by congenital muscular dystrophy (CMD) with divergent CNS involvement. In both, CMD was diagnosed by finding dystrophic alterations in muscle biopsy and muscular deficit at birth. The elder sister suffered also from marked intellectual deficit and epilepsy, as usually reported in children with Fukuyama CMD. In the same patient, at 2 years of age, CT scan showed severe hypodensity of cerebral white matter and severe ventricular dilatation of occipital horns. At 8 years of age, MRI also showed clearcut pachygyria mainly in the parietal and occipital lobes. MRI and CT scan at the same age showed improvement of the leukoencephalopathy and unchanged ventricular dilatation, as reported for patients with Fukuyama CMD. Unlike Japanese cases, however, she showed no progression in her muscular deficit and her muscle immunostaining of laminin M chain (merosin) was normal. The younger sister had normal mental development, never experienced epileptic fits and had always normal EEC However, as often seen in classical CMD, her CT scan showed moderate hypomyelination of cerebral white matter and mild dilatation of lateral ventricles. MRI did not show any other brain abnormalities. Sequential CT scan at 2, 4 and 6 years of age showed improvement of the leukoencephalopathy. Her muscular deficit had a stationary clinical course. Her immunostaining of muscle merosin was moderately reduced. The finding of Fukuyama-like and classical CMD in 2 sisters indicates the possibility that different forms of CMD may be different expressions of the same genetic disease.

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Section: Discussionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

Divergence of Central Nervous System Involvement in 2 Italian Sisters with Congenital Muscular Dystrophy: A Clinical and Neuroradiological Follow-Up

et al. 1995

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“…The involvement of both muscular and CNS systems has been reported in some un common myopathies: artrogryposis [9], type II glycogenosis [10], McArdle's disease [11], mitochondrial myopathies [12,13], syn drome of systemic deficiency of carnitine [14], centronuclear myopathy [15,16], 'Mus cle, eye, and brain' syndrome [17], Specific clinical or bioptic findings allow diagnosis of all these entities.…”

Section: Discussionmentioning

confidence: 99%

Congenital Muscular Dystrophy with Central Nervous System Involvement: Case Report

Martinelli

Gabellini²,

Ciucci

et al. 1987

Eur Neurol

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A case of a mediterranean boy with congenital muscular dystrophy (CMD) and central nervous system (CNS) involvement with mild intellectual impairment and seizures is reported. Muscular dystrophy involved both skeletal and mimic muscles, and histological findings were consistent with a congenital dystrophy. EEG recordings showed generalized and localized paroxysmal activities. CT scan demonstrated low-density periventricular areas. Ophthalmoplegia was also observed. A literature review disclosed that in some western cases of CMD plus CNS involvement, cranial muscles other than mimic muscles may be involved.

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“…Congenital muscular dystrophy (CMD) with central nervous system involvement comprises three clinical variants: Fukuyama CMD (FCMD) [Fukuyama et al, 1960], Walker-Warburg syndrome (WWS) [Dobyns et al, 1985;Dobyns et al, 1989], and muscle-eye-brain disease (MEBD) [Raitta et al, 1978;Santavuori and Leisti, 1977]. These entities share clinical manifestations, and the distinction between FCMD and the other two may depend largely on a quantitative difference in severity [Fukuyama, 1997].…”

Section: Introductionmentioning

confidence: 99%

Haplotype-Phenotype correlation in Fukuyama congenital muscular dystrophy

et al. 2000

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In typical Fukuyama congenital muscular dystrophy (FCMD), peak motor function is usually only unassisted sitting or sliding on the buttocks, though a few patients are able to walk at some point. However, a few patients have a severe phenotype and never acquire head control. In addition, it is clinically difficult to differentiate this severe FCMD from Walker-Warburg syndrome (WWS) or from muscle-eye-brain disease (MEBD). In order to establish a genotype-phenotype correlation, we performed haplotype analysis using microsatellite markers closest to the FCMD gene (FCMD) in 56 Japanese FCMD families, including 35 families whose children were diagnosed as FCMD with the typical phenotype, 12 families with a mild phenotype, and 9 families with a severe phenotype. Of the 12 propositi with the mild phenotype, 8 could walk and the other 4 could stand with support; 10 cases were homozygous for the ancestral founder (A-F) haplotype whereas the other 2 were heterozygous for the haplotype. In the 9 severe cases, who had never acquired head control or the ability to sit without support, 3 had progressive hydrocephalus, 2 required a shunt operation, and 7 had ophthalmological abnormalities. Haplotype analysis showed that 8 of the 9 cases of the severe phenotype are heterozygous for the A-F haplotype, and the other one homozygous for the haplotype. We confirmed that at least one chromosome in each of the 56 FCMD patients has the A-F haplotype. The rate of heterozygosity for the A-F haplotypes was significantly higher in severe cases than in typical or mild cases (P < 0.005). Severe FCMD patients appeared to be compound heterozygotes for the founder mutation and another mutation. Thus, the present study yielded molecular genetic evidence of a broad clinical spectrum in FCMD.

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Muscle, Eye and Brain Disease: A New Syndrome

Cited by 110 publications

References 0 publications

Divergence of Central Nervous System Involvement in 2 Italian Sisters with Congenital Muscular Dystrophy: A Clinical and Neuroradiological Follow-Up

Divergence of Central Nervous System Involvement in 2 Italian Sisters with Congenital Muscular Dystrophy: A Clinical and Neuroradiological Follow-Up

Congenital Muscular Dystrophy with Central Nervous System Involvement: Case Report

Haplotype-Phenotype correlation in Fukuyama congenital muscular dystrophy

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