SHM Converge Scientific Abstract ePoster Gallery-Acute Progressive Hypotonia in an 8 Month Old: An Atypical Presentation of a Rare Disease

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This case describes an 8-month-old previously healthy, exclusively breastfed, unvaccinated infant who presented with 24 hours of poor feeding, irritability, decreased urine output, constipation, weak cry, and lethargy. On exam, she had preserved pupils but diminished gag reflex, profound axial hypotonia, diffuse flaccid paralysis, head lag, absent deep tendon reflexes, and poor respiratory effort. Her evaluation was notable for mild leukocytosis and an anion-gap metabolic acidosis, but imaging, CSF studies, cultures, inflammatory markers, and multiple infectious and neurologic tests were unrevealing.<br /><br />Although she was older than the typical age for infantile botulism and had no classic exposure history such as honey, soil, or dust, the combination of progressive descending weakness, bulbar involvement, constipation, and an afebrile course led clinicians to suspect infantile botulism. She deteriorated to respiratory failure requiring intubation. Botulism Immune Globulin was administered, after which she improved gradually. Stool testing later confirmed botulinum toxin A, and she was transferred to inpatient rehabilitation.<br /><br />The discussion emphasizes that infantile botulism should remain on the differential for any infant with acute progressive hypotonia and bulbar weakness. Key alternative diagnoses include Guillain-Barré syndrome, transverse myelitis, myopathy, neurometabolic disease, myasthenia gravis, and encephalitis. The case also highlights that Guillain-Barré syndrome may have a normal early CSF profile. <br /><br />Pathophysiologically, infantile botulism occurs when immature gut defenses allow Clostridium botulinum spores to germinate, produce neurotoxin, and block acetylcholine release at the neuromuscular junction, causing symmetric flaccid paralysis. The report underscores the importance of early recognition and timely botulism immune globulin treatment, which shortens hospital stay and improves outcomes.

Asset Subtitle

Mili Shah

Meta Tag

Author List Jamie M. Pinto, Mili Shah, Richard Sultan

Category Clinical Vignettes

Concept Infant Botulism

Concept Intravenous Immunoglobulin

Concept Neuromuscular Blocking Agent

Concept Acute Progressive Hypotonia

Concept Early Recognition

Distinguished Non-Finalist

Presenter Organization Hackensack Meridian Health Jersey Shore University Medical Center

Presenting Author Mili Shah

Track Pediatric

Keywords

infantile botulism

flaccid paralysis

bulbar weakness

hypotonia

constipation

botulinum toxin A

botulism immune globulin

respiratory failure

Clostridium botulinum

neuromuscular junction

Infant Botulism

Intravenous Immunoglobulin

Neuromuscular Blocking Agent

Acute Progressive Hypotonia

Early Recognition