Congenital myopathies and muscular dystrophies: Case

Clinical case of a 6-month-old girl with merosin-deficient congenital muscular dystrophy from LAMA2, covering the markedly raised creatine kinase, the diffuse white matter change, the epilepsy, the next-generation sequencing panel confirmation, the multidisciplinary management of respiratory, nutritional, and orthopaedic care, the genetic counselling, and the prognosis.

paediatric neuromuscular long case4 min readVerification in progress

Prompt

A 6-month-old girl presents with floppiness since birth, a weak suck, poor weight gain, and delayed motor milestones. She is socially alert and smiles and babbles. Examination shows generalized hypotonia, weakness greater proximally, and absent knee and ankle reflexes. She has proximal contractures at the elbows and the knees but no joint hyperlaxity and no skin change. Her creatine kinase is 6800 units per litre. Her brain magnetic resonance imaging shows diffuse white matter abnormality with a structurally normal cortex and no cobblestone change. She had one focal seizure last month.

Summary and immediate impression

This girl presents a textbook case of merosin-deficient congenital muscular dystrophy from LAMA2. The markedly raised creatine kinase of 6800 units per litre forks the diagnosis toward a congenital muscular dystrophy, and the diffuse white matter abnormality with the structurally normal cortex and the epilepsy lands it on the merosin-deficient form, because the laminin-alpha-2 chain is expressed in the white matter and the nerve as well as the muscle. The alert baby with the spared cognition fits the form, and the immediate threats are the respiratory failure and the seizures. ^[1]^[5]

References5Show

[1]Bönnemann CG, Wang CH, Quijano-Roy S, et al Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord, 2014.PMID 24581957
[2]Wang CH, Bonnemann CG, Rutkowski A, et al Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol, 2010.PMID 21078917
[9]Mercuri E, Topaloglu H, Brockington M, et al Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol, 2006.PMID 16476814
[10]Magri F, Brusa R, Bello L, et al Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis. Acta Myol, 2020.PMID 32904964
[5]Muntoni F, Voit T The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord, 2004.PMID 15351421

Congenital myopathies and muscular dystrophies: Case

paediatric neuromuscular long case4 min readVerification in progress

Summary and immediate impression

References5Show

[1]Bönnemann CG, Wang CH, Quijano-Roy S, et al Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord, 2014.PMID 24581957
[2]Wang CH, Bonnemann CG, Rutkowski A, et al Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol, 2010.PMID 21078917
[9]Mercuri E, Topaloglu H, Brockington M, et al Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol, 2006.PMID 16476814
[10]Magri F, Brusa R, Bello L, et al Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis. Acta Myol, 2020.PMID 32904964
[5]Muntoni F, Voit T The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord, 2004.PMID 15351421