A difficult airway approach in a merosin-deficient congenital muscular dystrophy patient: a case report

Abstract Merosin-deficient muscular dystrophy is caused by an autosomal recessive mutation on laminin-α2 gene characterized by severe progressive muscle weakness associated with neuromuscular scoliosis and restrictive lung disease. In this case report, we describe an alternative airway approach performed in a child with anticipated difficult airway and merosin-deficient muscular dystrophy. Significant anesthetic implications may increase the perioperative risk, requiring accurate knowledge to anticipate an adequate management and provide patient-safety strategies.

Congenital muscular dystrophy due to laminin α2 (merosin) deficiency (MDC1A) in an ethnic Malay girl

We report the first known ethnic Malay patient with laminin alpha-2 (merosin) deficiency (MDC1A), a subtype of congenital muscular dystrophy (CMD)as a result of novel LAMA2 gene mutations. The 21-month-old female presented with hypotonia at birth and gross motor delay of her distal lower limbs. Physical examination showed generalised hypotonia, hyporeflexia and myopathic facies but good cognitive functions. Serum creatine kinase was elevated and white matter changes were detected in the brain MRI. Muscle biopsy showed dystrophic changes with complete laminin α2 deficiency by immunohistochemistry. Mutation analysis of LAMA2 showed compound heterozygote at exon 21, c.2888delG(p.Gly963Alafs*111) and exon 34, c.4886dupC(p.Pro1629Profs*40) leading to premature stop codon for each of the frameshift mutations. Patient review at seven years of age showed satisfactory cognitive functions despite having contractures and weakness. Genetic testing of LAMA2 related muscular dystrophy facilitated the earlier diagnosis of MDC1A and genetic counselling for this family. MDC1A

Merosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report

This paper reports the brain magnetic resonance imaging (MRI) findings of a case of merosin-deficient congenital muscular dystrophy (MDCMD) in a neonate and discusses the spectrum of brain involvement in MDCMD. A neonate presented hypotonia, increased serum creatine kinase levels, and polymicrogyria and subcortical heterotopia on brain MRI involving both posterior temporal and occipital lobes. Although these findings suggested Fukuyama muscular dystrophy, muscle biopsy showed dystrophic changes and an absence of merosin staining. We found that compound heterozygous mutation for c.2049_2050delAG (p.R683fs) and c.5866-2A>G in the LAMA2 gene which encodes Laminin-α2. To our knowledge, this is the second Korean case of MDCMD with polymicrogyria and subcortical heterotopias. This case shows that a range of brain structural malformations can be found in children with MDCMD and that the classification of congenital muscular dystrophy (CMD) is not complete yet, as indicated previously in reports suggesting other unclassified forms of CMD.

Congenital muscular dystrophy type 1A with residual merosin expression / 소아과

Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin alpha2 (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin alpha2)-deficient skeletal muscles. However, the degree of merosin expression ranges from total absence to partial reduction. Patients with residual merosin expression have more variable and milder phenotypes than those with absolute merosin deficiency. We observed a Korean girl with MDC1A with residual merosin expression. Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. Immunohistochemical staining of muscle fibers including merosin, is important to evaluate patients with hypotonia, delayed motor development, and abnormal white matter changes.

Distrofia muscular congénita: reporte de caso y revisión de la literatura / Congenital muscular dystrophy: case report and review of the literature

Las distrofias musculares congénitas son entidades con herencia autosómica recesiva. Se clasifican en las que comprometen el sistema nervioso central y las que no lo hacen (forma clásica). Este último grupo se subdivide en distrofias sin déficit de merosina y con déficit de merosina. Se reporta el caso de un paciente con hipotonía grave, contracturas articulares y compromiso de la sustancia blanca del sistema nervioso central. Se considera el diagnóstico de distrofia muscular congénita con posible déficit de merosina.

Congenital muscular dystrophies are autosomal recessive inherited disorders. There are two categories depending on the structural involvement of the central nervous system. The classic form of congenital muscular dystrophy can be subdivided into two groups the merosin-negative and merosin-positive. We describe the case of a patient with severe hypotonia, joint contractures and white matter changes in the central nervous system, the authors considered to be a case of merosindeficient congenital muscular dystrophy.

Merosin Negative Congenital Muscular Dystrophy Who Was Misdiagnosed Initially as Cerebral Palsy: A case report

Congenital muscular dystrophies (CMDs) are autosomal recessive, heterogenous disorders characterized clinically by neonatal hypotonia, delayed motor milestones, joint contractures, and dystrophic changes in the muscles. The classic forms of CMDs are subclassified into merosin positive and deficient (negative) types. Merosin (laminin alpha chain)-negative CMD is caused by the mutation in the basal lamina of the alpha2 chain gene (LAMA2 gene at 6q22-23). Merosin deficiency could disrupt the attachment of muscle cell to the extracellular matrix and lead to muscle cell necrosis. We report a case of merosin-negative CMD, confirmed by immunohistochemical staining of muscle samples, which is uncommon form in Korea.

Merosin Deficient Congenital Muscular Dystrophy in Korea / 대한소아신경학회지

PURPOSES:Congenital muscular dystrophies(CMDs) are an autosomal recessive and heterogeneous disorders. The classic forms of CMD are subclassified into two major categories:merosin positive and deficient. Merosin deficient congenital muscualr dystrophy (MDCMD) is rare in Asia and it has never been reported especially in Korea. So, we summarized the clinical features with neuroimaging findings of the patients, who were diagnosed as MDCMD, for the first time in Korea. METHODS: Twenty three patients were diagnosed as CMD in Seoul National University Children's Hospital over 3 years(2001-2004). Among them, four patients with MDCMD were proven by merosin immunohistochemical staining. We reviewed their clinical, pathologic features, EMG/NCS findings and brain MRIs. RESULTS: Among 23 patients with CMD, 4 patients(17.4%) were MDCMD. All of them were presented at birth or early infancy with hypotonia, muscle weakness and joint contracture. They all could not walk and had myopathic faces, developmental delay, poor weight gain and scoliosis. EMG/NCS showed myopathic motor unit action potential (MUP) and decreased compound motor unit action potential(CMAP). Merosin deficiency was demonstrated in muscle or skin tissues. All of them had diffuse or focal high signal intensity lesions of white matter in brain MR T2WI. However, they showed neither mental retardation nor seizure though one of them had right occipital polymicrogyria. CONCLUSION: We reported 4 children with MDCMD for the first time in Korea. The prevalence in Korea might be lower than in Europe but probably higher than in Japan. If CMD patients have sustained delayed motor milestone with normal intelligence, myopathic face, decreased CMAP and myopathic MUP in EMG/NCS, MDCMD should be suspected and further diagnostic work up such as brain MR and merosin immunohistochemistry will be needed.

Merosin Deficient Congenital Muscular Dystrophy: A Case with Immunocytochemical Analysis

Primary merosin (laminin alpha2 chain)-deficient congenital muscular dystrophy (CMD) is a uncommon and severe form of CMD, which is caused by the mutations in the laminin alpha2 chain gene. It is an autosomal recessively inherited form of muscular dystrophy that is associated with severe neonatal hypotonia, a high serum creatine kinase level, and abnormal brain imaging without intellectual dysfunction. We report a case of merosin-deficient CMD confirmed by the immunocytochemical analysis of the frozen muscle biopsy. This is the first case of merosin-deficient CMD in Korea.