Intestinal botulism

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Overview

Intestinal botulism (also known as intestinal toxemia botulism) is a rare infectious disease caused by the colonization of the gastrointestinal tract by Clostridium botulinum (or, less commonly, other botulinum toxin-producing Clostridium species), which produces botulinum neurotoxin in situ within the intestinal lumen. Unlike foodborne botulism, where preformed toxin is ingested, intestinal botulism involves the germination of ingested spores and subsequent toxin production within the gut. The most well-known form is infant botulism, which occurs in children typically under 12 months of age, but intestinal botulism can also rarely affect adults, particularly those with altered gastrointestinal anatomy, flora, or function (e.g., due to surgery, inflammatory bowel disease, or antibiotic use). The disease primarily affects the nervous system through the action of botulinum toxin, which blocks acetylcholine release at neuromuscular junctions, leading to descending flaccid paralysis. Key symptoms include constipation (often the earliest sign), poor feeding, weak cry, diminished muscle tone (hypotonia or "floppy baby" in infants), progressive weakness, difficulty swallowing (dysphagia), ptosis, sluggish pupillary reflexes, and in severe cases, respiratory failure requiring mechanical ventilation. In adults, symptoms are similar and may include blurred vision, slurred speech, dry mouth, and generalized weakness. Treatment is primarily supportive, including nutritional support, airway management, and mechanical ventilation when necessary. For infant botulism, human-derived botulism immune globulin intravenous (BIG-IV, marketed as BabyBIG®) is the standard specific treatment and has been shown to significantly reduce hospital stay and disease severity. For adult intestinal botulism, equine-derived botulinum antitoxin may be administered. Antibiotics directed against Clostridium are generally avoided as they may cause bacterial lysis and paradoxical toxin release. Most patients recover fully with appropriate supportive care, though recovery can take weeks to months as new nerve terminals must regenerate.

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MydriasisHP:0011499
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Intestinal botulism.

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No actively recruiting trials found for Intestinal botulism at this time.

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No specialists are currently listed for Intestinal botulism.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Intestinal botulism.

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Community

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Common questions about Intestinal botulism

What is Intestinal botulism?

Intestinal botulism (also known as intestinal toxemia botulism) is a rare infectious disease caused by the colonization of the gastrointestinal tract by Clostridium botulinum (or, less commonly, other botulinum toxin-producing Clostridium species), which produces botulinum neurotoxin in situ within the intestinal lumen. Unlike foodborne botulism, where preformed toxin is ingested, intestinal botulism involves the germination of ingested spores and subsequent toxin production within the gut. The most well-known form is infant botulism, which occurs in children typically under 12 months of age,

How is Intestinal botulism inherited?

Intestinal botulism follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.