1 - Hospital Dona Estefânia - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal, Paediatric Infectious Diseases Department, Lisbon, Portugal
2 - Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Paediatric Neurology Department, Lisbon, Portugal
3 - General Directorate of Health, Disease Prevention And Health Promotion Department, Lisbon, Portugal
4 - Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Pharmacy, Lisbon, Portugal
5 - National Institute of Health Doutor Ricardo Jorge, Infectious Diseases Department, Lisbon, Portugal
6 - National Institute of Health Doutor Ricardo Jorge, Food And Nutrition Department, Oporto, Portugal
- Reunião internacional (ESPID 2023)
Background: Infant Botulism (IB) is a rare potentially life-threatening disorder, caused by botulinum neurotoxins-producing Clostridium. In Portugal, botulism is a statutory notifiable disease since 1999 and the first case of IB occurred in 2009.
Case Presentation Summary: In October 2022 a previously healthy 6-month-old female infant, born in USA, living in Austria for 2 months and on vacation in Portugal for 2 days, presented with subacute generalized hypotonia. Two days before she had become lethargic and was feeding poorly, also being constipated for six days. On admission decompensated hypovolemic shock was treated. Flaccid tetraparesis with preserved tendon reflexes, bilateral facial involvement and asymmetrical ptosis without pupillary disfunction were latter noted. She remained stable, requiring a nasogastric tube for feeding due to decreased sucking and gag reflexes. Blood work was unremarkable. Further investigation included neuroaxis MRI, CSF analysis, EEG, EMG with repetitive stimulation and infectious and metabolic investigations, all negative. Despite the absence of known risk factors, IB was considered. In serum the ELISA assay was negative for detection of botulinum neurotoxins (BoNT). Type A BoNT was detected in stools by Mouse Bioassay and PCR was positive for the gene that encodes type A BoNT-producing Clostridium, isolated from the faecal sample. A thorough epidemiological enquiry showed a context of family consumption of honey from Austria and the child had been given a home nuts paste. Humanderived Botulism Immune Globulin was administered at day 8. One week after and with rehabilitation support there was a slow but progressive improvement.
Learning Points/Discussion: IB is an under-reported disease possibly due to its nonspecific presentation and diagnostic difficulties. In this case,early treatment,considering the clinical and epidemiological context,while waiting laboratorial confirmation,was essential to reduce morbidity/mortality.