A 10-month-old infant with multiple infantile hepatic hemangiomas and developmental delay is reported. He was found to be profoundly hypothyroid. Evaluation and management issues are discussed. This case emphasizes the importance of screening for hypothyroidism in patients with hemangiomas and the potential therapeutic benefit of prednisolone therapy in this condition.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/MOP.0b013e3282f409c3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The relationship between the early life gastrointestinal microbiome and childhood nocturnal cough.
J Allergy Clin Immunol
January 2025
Department of Public Health Sciences, Henry Ford Health, Detroit, MI; Center for Bioinformatics, Henry Ford Health, Detroit, MI. Electronic address:
Background: Nocturnal cough affects approximately 1 in 3 children, can negatively impact child health, and is often attributable to asthma. The association of the gut microbiome with nocturnal cough has not been investigated.
Objective: To investigate the association between early-life gut microbiome composition and nocturnal cough overall and in the context of asthma.
Outcomes following resective and disconnective strategies in the treatment of epileptic spasms: a systematic review of the literature and individual patient data meta-analysis.
Front Neurol
December 2024
Brain and Development Research Axis, Azrieli CHU Ste-Justine Research Center, Montreal, QC, Canada.
Epileptic spasms (ES) are a unique seizure type typically presenting in the form of infantile epileptic spasms syndrome (IESS) with characteristic hypsarrhythmia on scalp EEG and a preponderance with developmental delay or regression. While pharmacotherapy is the mainstay of treatment, surgical options, including disconnective or resective procedures, are increasingly recognized as viable therapeutic options for recurrent or persistent ES. However, limited data on safety, effectiveness, and prognostic factors hinder informed decision-making regarding surgery indications, timing, and intervention type.
View Article and Find Full Text PDFAssociation of Novel Pathogenic Variant (p. Ile366Asn) in Gene with Infantile Neuroaxonal Dystrophy.
Int J Mol Sci
January 2025
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We aimed to evaluate a novel coding pathogenic variant c.
View Article and Find Full Text PDFDesigning of immunodiagnostic assay using polyclonal antibodies for detection of Enteropathogenic Escherichia coli strains.
PLoS One
January 2025
Institute of Biotechnology, Addis Ababa University, Addis Ababa, Ethiopia.
Enteropathogenic Escherichia coli (EPEC) is a significant bacterial pathogen that causes infantile diarrhea, particularly in low- and middle-income countries. The lack of a reliable diagnostic method greatly contributes to the increased occurrence and severity of the disease. This study aimed at developing of a cost-effective, rapid, and efficient immunodiagnostic assay for detecting EPEC infection.
View Article and Find Full Text PDFA Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.
Clin Genet
January 2025
Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
Heterozygous pathogenic variants in MBD5 (MIM*611472) and CCM2 (MIM*607929) cause autosomal dominant intellectual developmental disorder 1 (MIM#156200) and cerebral cavernous malformations-2 (MIM#603284), respectively. Both conditions may present with seizures, epilepsy, and status epilepticus. However, super-refractory status epilepticus, defined as seizures lasting more than 24 h, has not been described in either condition.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!