De novo LMNA mutation in a migrant child presenting with respiratory failure

We report a case of an unconscious Black African male child who recently migrated from a West African country. He has a background of undiagnosed muscular dystrophy, regression of gross motor skills from early childhood and GMCFS (Gross Motor Function Classification System) Level V. This child had developed respiratory failure following an acute febrile illness and altered sensorium. This resulted in a cascade of events to manage the index presentation while unravelling the previously undiagnosed pathology. Genetic testing revealed pathogenic LMNA missense variant (NM_170707.2:c.1072G>A p.Glu358Lys). This child is under multidisciplinary follow-up care and cardiac surveillance. Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early-onset joint contractures, progressive muscle weakness with a humeroperoneal distribution and cardiac involvement. Early EDMD diagnosis could limit morbidity from cardiac complications and muscular contractures.