Infantile Refsum disease (IRD) is a peroxisome biogenesis disorder (PBD), and is part of a larger group of diseases called leukodystrophies, which are inherited conditions that damage the white matter of the brain and affect motor movements. Multiple signs and symptoms of IRD begin in infancy and progress through early childhood, including hearing and visual impairment, intellectual and growth impairment, seizures, liver involvement, and orofacial and dental abnormalities. This paper presents a case history of a 12-year-old female patient with IRD who underwent dental rehabilitation in the operating room under general anesthesia and includes a 2-year follow-up. Medical, dental, and management considerations in the care of this child's condition are presented. This paper also discusses the importance of a multidisciplinary approach in the management of children with special needs.
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Biallelic Deletion of Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.
Mol Syndromol
October 2024
Department of Medical Genetics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
Article Synopsis
- Peroxisome biogenesis disorders (PBDs) include various diseases with diverse symptoms like developmental delays, hearing loss, and liver issues, linked to genetic mutations affecting peroxisome function.* -
- A patient was studied using whole-exome sequencing to identify genetic causes behind their clinical symptoms, which included developmental delays and organ enlargement, but no single-nucleotide mutations were found.* -
- However, a homozygous deletion in exon 4 of the gene was identified, affecting the protein's transmembrane domain, which is crucial for normal cellular processes and peroxisome function.*
Mutation in a Child with Infantile Refsum Disease-A Case Report and Literature Review.
Children (Basel)
March 2023
Department of Family Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, Iași 700115, Romania.
Article Synopsis
- - The paper discusses a case study of a 2-year-old with infantile Refsum disease, detailing the progression of the child's multiple health complications, including hematologic and metabolic issues, and progressive disabilities.
- - Genetic testing identified a mutation in the Peroxisomal Biogenesis Factor 6 gene, aligning with the child's metabolic profile and contributing to altered coagulation factors and a spontaneous brain hemorrhage.
- - The child's clinical picture features various disorders across neurological, ophthalmological, digestive, cutaneous, and endocrine systems, linked to the buildup of very long chain fatty acids and oxidative anomalies, highlighting the significance of understanding genetic metabolic disorders in pediatric pathology.
Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder.
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Department of Gastroenterology, Kirk Kerkorian School of Medicine at UNLV, Las Vegas, NV, USA.
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- - Zellweger spectrum disorders (ZSDs) can lead to various liver issues, including mild conditions like hepatosplenomegaly and more severe problems like cirrhosis and liver cancer.
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Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates.
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Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan; Division of Clinical Genetics, Gifu University Hospital, Gifu, Japan.
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- The study focuses on bile acid intermediates THCA and DHCA, which accumulate in certain peroxisomal disorders (PDs) like Zellweger spectrum disorder (ZSD), and aims to measure their levels for diagnosis and treatment evaluation.* -
- By using liquid chromatography-mass spectrometry on serum samples from patients with ZSD and other PDs, researchers found significant increases in bile acid levels for those with severe conditions, indicating the method's effectiveness in differentiating PDs.* -
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