Jeremy Sites
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina
Disclosure information not submitted.
Laura Rachal, MD, MS
Infectious Disease Fellow
University of North Carolina at Chapel Hill, United States
Disclosure information not submitted.
Nathaniel Wooten, MD
Child Neurology Resident
University of North Carolina at Chapel Hill, United States
Disclosure information not submitted.
Diana Cejas, MD, MPH
Assistant Professor of Child Neurology
University of North Carolina at Chapel Hill, United States
Disclosure information not submitted.
Zachary Willis, MD, MPH
Assistant Professor of Pediatric Infectious Disease
University of North Carolina at Chapel Hill, United States
Disclosure information not submitted.
Jenny Boyd, MD
Associate Professor of Pediatrics and Anethesiology
University of North Carolina at Chapel Hill, United States
Disclosure information not submitted.
Title: A Rare Case of Botulism with Encephalopathy in a Baby with Trisomy 21 and Congenital Heart Disease
Case Report Body:
Introduction: We describe the case of an infant presenting with hypotonia, respiratory failure, and encephalopathy who was ultimately diagnosed with infantile botulism.
Description: The patient is a 4 month old male who was admitted to our pediatric cardiac ICU for respiratory distress. Past medical history includes Trisomy 21, Tetralogy of Fallot with complete atrioventricular canal defect, tracheobronchomalacia, and G tube dependence. At home, his parents observed rhinorrhea, a weak cry, and decreased stool events prior to hospitalization but denied fever or additional symptoms. Shortly after admission, his respiratory status deteriorated necessitating intubation for mechanical ventilation. Over the following days, he demonstrated worsening hypotonia, minimal spontaneous respirations, absent cough and gag, and absent deep tendon reflexes. Upon further review, exposure history did not include construction near the home, parental occupational exposures, or honey ingestion. The patient did, however, have contact with newly laid sod at a relative's home. Given suspicion for botulism, a stool sample was sent to the CDC, and the patient was empirically treated with IV botulism immunoglobulin. Broad infectious and metabolic work-up was otherwise unrevealing. EEG notable for diffuse background slowing consistent with metabolic encephalopathy. Following BIG therapy, he demonstrated slow neurological recovery. Stool botulinum toxin assay resulted positive.
Discussion: Botulism is a rare disorder resulting from C. botulinum toxin binding to cholinergic receptors at motor and autonomic neuromuscular junctions, disrupting acetylcholine release into the synaptic cleft. Due to their immature gut flora, infants are believed to be susceptible to intestinal colonization of C. botulinum, which then seeds its neurotoxin into the blood, leading to a well-described syndrome of hypotonia, cranial nerve palsies, and flaccid paralysis. Our patient’s comorbidities made diagnosis challenging. This case is unique because only one other case report is published identifying encephalopathy as a clinical feature of infantile botulism. This highlights the importance of considering botulism and implementing treatment early in the infant with new hypotonia and bulbar palsies, recognizing that encephalopathy may be a rare sequela of the disease.