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Case 336.
Radiology
December 2024
From the Departments of Pediatric Imaging (G.B.) and Pediatric Neurology (A.A., A.M.A.), Hôpital Universitaire de Bruxelles, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels, Belgium.
A 10-month-old female infant, who was second-born, was referred for progressive macrocephaly, axial hypotonia, developmental delay, and limb stiffness. Birth had occurred at 41 weeks, after an uneventful pregnancy and delivery, to nonconsanguineous parents. Noticeably, the child could not hold her head up at 4 months or sit at 10 months of age.
View Article and Find Full Text PDFCongenital isolated adrenocorticotropic hormone deficiency in a newborn caused by mutation: a case report and literature review.
Front Pediatr
November 2024
Department of Neonatology, Lanzhou University Second Hospital, Lanzhou, China.
Background: To investigate the clinical phenotype, genetic characteristics, and prognosis of isolated adrenocorticotropic hormone deficiency in a newborn (IAD, OMIM 201400) caused by mutation of the gene.
Case Presentation: The clinical features, diagnosis, treatment, and prognosis of a newborn with IAD admitted to our hospital were retrospectively analyzed. The patient and his parents were also examined by whole exome sequencing.
First case of infant botulism in Sicily-case report.
Ital J Pediatr
November 2024
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.
Article Synopsis
- Botulism is a serious disease caused by a toxin from Clostridium botulinum, leading to muscle paralysis and respiratory issues; diagnosing it can be tough without typical risk factors, such as honey consumption.
- A documented case of infant botulism in Sicily involved an exclusively breastfed baby showing symptoms like poor suction and hypotonia, without any obvious food contamination history.
- The key to the successful treatment was recognizing the signs early, administering botulinum antitoxin, and confirming the diagnosis through tests, emphasizing the need for awareness of all possible exposure sources, including inhalation of contaminated dust.
Outpatient Infant Botulism in the United States, 1976-2021.
J Pediatr
January 2025
Infant Botulism Treatment and Prevention Program, Infectious Diseases Laboratories Division, Center for Laboratory Sciences, California Department of Public Health, Richmond, CA. Electronic address:
Objective: To characterize cases of outpatients with infant botulism (IB) in the US identified by the Infant Botulism Treatment and Prevention Program at the California Department of Public Health from 1976 through 2021.
Study Design: Outpatient IB cases were defined as patients presenting with an illness consistent with the known paralyzing action of botulinum neurotoxin and with laboratory confirmation. Outpatient cases were distinguished from the majority of patients with IB by the atypical fact that they did not require hospitalization throughout the course of their illness.
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