Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism.

ABSTRACT

Spinal muscular atrophy with respiratory distress type 1 (SMARD 1) is a rare autosomal recessive disease characterized by distal muscular atrophy and respiratory distress. It presents between six weeks and six months of age, with an eventual requirement of respiratory support. To date, no curative treatment to attenuate or stop the clinical deterioration has been found; therefore, supportive treatment is the corner stone of management. We report a 12-week-old infant with SMARD1 initially diagnosed and managed as a case of infant botulism secondary to a history of significant exposure to honey. SMARD1 and infant botulism all share characteristic clinical features, namely, respiratory distress, hypotonia, and autonomic dysfunction with typical onset of less than one year of age. This case report illustrates that SMARD1, SMA Type 1, and infant botulism share common clinical features. It is important to maintain a broad differential when evaluating an infant with hypotonia, especially when there is a lack of clinical response to conventional medical interventions directed toward the working diagnosis.