Ashani Dinushika¹, Udari Ruwanpathirana¹, Jithma Fonseka¹, Ganga Hapuarachchi¹
1- German Sri Lanka Friendship Hospital for Women, Sri Lanka
Abstract Body
Introduction: Spinal muscular atrophy (SMA) is a severe autosomal recessive neuromuscular disorder caused by deletion or mutation of the survival motor neuron 1 (SMN1) gene, resulting in progressive degeneration of anterior horn cells. Type 1, the most severe form, presents in early infancy with profound hypotonia, bulbar weakness and progressive respiratory failure.
Case presentation: We describe a two-month-old term infant, second born to nonconsanguineous healthy parents, who presented with respiratory distress since birth and was initially treated as congenital pneumonia and neonatal sepsis. Clinical examination revealed generalized severe symmetrical proximal limb hypotonia and weakness, absent deep tendon reflexes, tongue fasciculations, paradoxical breathing, a bell-shaped chest and a weak cry , while the infant remained alert and socially interactive. The infant remained oxygendependent despite normal follow-up chest radiography and echocardiography . Genetic testing confirmed homozygous deletion of exons 7 and 8 of the SMN1 gene, establishing the diagnosis . In a resource-limited setting, palliative care with long-term home oxygen therapy was initiated. Continuous oxygen supply , backup electrical support, environmental modifications and pulse oximetry were arranged. Community health services and relevant Presenting Authorities were informed, a contingency plan for respiratory deterioration was established, and parents were trained in basic life support and chest physiotherapy . Social welfare support, caregiver psychosocial follow-up and additional immunizations were coordinated to optimise continuity of care.
Conclusion: Coordinated home-based palliative respiratory care is feasible in resourcelimited settings through multidisciplinary and community-level support. In the absence of disease-modifying therapy , the condition follows a severe course with early respiratory failure.