Oswald Sarah, Finch Martha, Schwaede Abigail
Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
McGaw Medical Center of Northwestern University, Chicago, IL, USA.
J Child Neurol. 2025 Sep;40(8):674-677. doi: 10.1177/08830738251333467. Epub 2025 Apr 29.
The congenital muscular dystrophies are a group of inherited disorders that present in infancy or early childhood with generalized weakness and hypotonia as well as a wide range of other clinical manifestations. Merosin-deficient congenital muscular dystrophy, also referred to as -related muscular dystrophy, is caused by biallelic pathogenic variants in the gene and can present with both an early-onset infantile and late-onset childhood form. Patients with the most severe phenotype typically present within the first few months of life with severe weakness and hypotonia and can develop contractures, scoliosis, dysphagia, as well as peripheral nerve and central nervous system abnormalities. We report a case of an infant that presented with focal weakness of his upper extremities that was initially thought to be due to cervical spinal abnormality or brachial plexus injury but was ultimately found to have Merosin-deficient congenital muscular dystrophy. This case highlights an atypical presentation of congenital muscular dystrophy and demonstrates the importance of having a low threshold for testing for congenital muscular dystrophies in infants with abnormalities in strength or tone.
先天性肌营养不良是一组遗传性疾病，在婴儿期或幼儿期出现，伴有全身无力和肌张力减退以及广泛的其他临床表现。缺乏merosin的先天性肌营养不良，也称为相关肌营养不良，由基因中的双等位基因致病性变异引起，可表现为早发性婴儿型和晚发性儿童型。具有最严重表型的患者通常在生命的头几个月内出现严重无力和肌张力减退，并可发展为挛缩、脊柱侧弯、吞咽困难以及周围神经和中枢神经系统异常。我们报告了一例婴儿，其上肢出现局灶性无力，最初认为是由于颈椎异常或臂丛神经损伤，但最终发现患有缺乏merosin的先天性肌营养不良。该病例突出了先天性肌营养不良的非典型表现，并证明了对于有力量或肌张力异常的婴儿，对先天性肌营养不良进行检测的阈值要低的重要性。
