A neonatal patient with LAMA2-related muscular dystrophy presenting as cyanotic in China: case report and a literature review

Background: LAMA2-related muscular dystrophy (LAMA2-RD) is an autosomal recessive genetic disease caused by mutations in the LAMA2 gene and it is a devastating neuromuscular disease. The clinical manifestations of LAMA2-RD range from severe, early-onset merosin deficient congenital muscular dystrophy type 1A (MDC1A), to mild, childhood-onset limb-girdle muscular dystrophy-23 (LGMDR23).Case presentation: The Patient was admitted to the hospital because of paroxysmal cyanosis one hour after birth. She had a weak cry and floppy limbs. Her CK level was extremely high. Her uncle also had floppy limbs and died at the age of five. Whole-exome sequencing revealed a homozygous missense? mutation of the LAMA2 gene, c.283C>T (p.Gln95). Based on the clinical manifestations and gene detection results, the patient was diagnosed with LAMA2-RD. In addition, we also reviewed the literature and summarized the genetic sequencing results and clinical characteristics of patients. All patients details were recorded and analyzed in the article.Conclusions: We report the neonatal patient with LAMA2-RD diagnosed by genetic sequencing and clinical presentation, one of whom was diagnosed at a very young age. This paper summarizes the clinical manifestations and gene sequencing results of the patient in detail, in order to provide reference for early clinical detection and diagnosis.