LAMA2 stop-codon mutation: Merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression

Vigliano, Piernanda; Dassi, Patrizia; Blasi, Carlos Hernández; Mora, Marina; Jarre, Laura

doi:10.1016/j.ejpn.2008.01.010

Cited by 28 publications

(31 citation statements)

References 11 publications

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“…One of them had absence seizures and mental deterioration at the age of 9. Vigliano et al 6 described a child with CMD due to LAMA2 mutation and refractory focal epilepsy that began when she was 6 years old. Coincident with onset of seizures, psychomotor regression was noted.…”

Section: Discussionmentioning

confidence: 98%

LAMA2-related congenital muscular dystrophy complicated by West syndrome

Camacho

Núñez

Dekomien

et al. 2015

European Journal of Paediatric Neurology

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Section: Discussionmentioning

confidence: 98%

LAMA2-related congenital muscular dystrophy complicated by West syndrome

Camacho

Núñez

Dekomien

et al. 2015

European Journal of Paediatric Neurology

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“…In other published cases, polymicrogyria or focal cortical dysplasias were mainly located occipitally [9,18]. The underlying mechanisms are not fully understood but they do indicate a role for LAMA2 protein in embryonic neuronal migration.…”

Section: Discussionmentioning

confidence: 99%

CNS findings in congenital muscular dystrophy 1A (with laminin alpha-2-deficiency)

Köhler

Weigt-Usinger

Heyer

et al. 2011

Translational Neuroscience

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Congenital muscular dystrophy (MDC) is a group of rare hereditary myopathies with an early onset of progressive muscle weakness and dystrophic changes as evidenced by muscle biopsy. Some forms are associated with severe malformations of the brain. This study presented 2 pediatric patients with genetically diagnosed congenital muscular dystrophy 1A. The patients exhibited a typical combination of muscular hypotonia, joint contractures and elevated creatine kinase levels. Characteristic white matter lesions were not present in an early MRI scan of one patient, but could be detected at the age of 18 months. The second patient showed both severe white and grey matter abnormalities (pachy microgyria) in the MRI scan. In both cases, MRI findings did not correlate with the mental development of the patients.

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“…Cortical malformations were both present in patients with total and partial merosin deficiency. Some patients with laminin α2 deficiency and focal cortical dysplasia in the posterior areas of brain may also have drug resistant occipital epilepsy [7][8][9] . These patients may have partial seizures characterized by clusters of epileptic spasms, which may be missed or misdiagnosed because of muscular weakness.…”

Section: Discussionmentioning

confidence: 99%

“…These patients may have partial seizures characterized by clusters of epileptic spasms, which may be missed or misdiagnosed because of muscular weakness. Electroencephalographypolymyographic recordings may be needed in these cases 8,9 . The main symptoms in our cases presented here were developmental delay in motor milestones and pes equinovarus deformity.…”

Section: Discussionmentioning

confidence: 99%

“…Most of the patients have abnormal brain magnetic resonance imaging (MRI), which consists of high signal on T2 weighted and FLAIR images 1,2 . Malformations of cortical development mainly involving the occipital cortex have been not well appreciated in clinical practice to be associated with laminin α2 related congenital muscular dystrophy [3][4][5][6][7][8][9] .…”

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confidence: 99%

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Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2

Yış¹,

Dixit²,

Işıkay³

et al. 2017

Turk J Pediatr

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Laminin α2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement. It may be associated with significant white matter abnormalities resembling leukodystrophies. In this study, we elaborated on two cases with laminin α2 related congenital muscular dystrophy who had occipital cortex dysgenesis in addition to characteristic white matter abnormalities. Although laminin α2 related congenital muscular dystrophy with white matter abnormalities is known, the association with occipital cortex dysplasia has been not well recognized by clinical colleagues.Key words: laminin α2, congenital muscular dystrophy, occipital cortex, dysgenesis.The clinical manifestations of LAMA2-related muscular dystrophy (LAMA2 MD) range from severe, early-onset congenital muscular dystrophy (CMD) -referred to as early-onset LAMA2-related muscular dystrophy (LAMA2 MD) to mild, later childhood-onset limb-girdle type muscular dystrophy as late-onset LAMA2-related muscular dystrophy (LAMA2 MD) 1 . LAMA2 Laminin α2 related CMD is caused by the mutations in the LAMA2 gene (OMIM 607855) located on chromosome 6q22-23 coding the α2 chain of laminin-211, also known as merosin, a heterotrimeric extracellular matrix protein 2 . It is one of the most common forms of CMD. Patients present with hypotonia, weakness of the extremities and contractures in the distal extremities. Patients with complete deficiency do not achieve independent ambulation but patients with a partial deficiency present with milder phenotypes 1,2 . Most of the patients have abnormal brain magnetic resonance imaging (MRI), which consists of high signal on T2 weighted and FLAIR images 1,2 . Malformations of cortical development mainly involving the occipital cortex have been not well appreciated in clinical practice to be associated with laminin α2 related congenital muscular dystrophy 3-9 . Case Reports Case 1A four-month-old boy was admitted for the investigation of delayed motor milestones. Birth history was unremarkable. Parents were second-degree consanguineous and he had a healthy four-year-old sister. He was not able to hold his head. He was hypotonic and deep tendon reflexes could not be obtained. Serum creatinine kinase was elevated with 4267 IU/L. Congenital muscular dystrophy was suggested and the patient was referred for ophthalmologic examination and brain magnetic resonance imaging (MRI) scans. Ophthalmologic examination was normal but brain MRI revealed occipital cortical dysgenesis with a subcortical band heterotopia (Fig. 1a).

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LAMA2 stop-codon mutation: Merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression

Cited by 28 publications

References 11 publications

LAMA2-related congenital muscular dystrophy complicated by West syndrome

LAMA2-related congenital muscular dystrophy complicated by West syndrome

CNS findings in congenital muscular dystrophy 1A (with laminin alpha-2-deficiency)

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2

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