Diffuse deposition of ceroid pigment in the muscularis propria of the gastrointestinal tract in a patient with a long history of malabsorption of unknown origin is reported. The depostion of this waste pigment is not reversible and is related to prolonged depletion of vitamin E. Progressive dilatation and hypomotility of the entire gastrointestinal tract are demonstrated by radiographic studies and possibly related to infiltrate of ceroid pigment in the smooth muscle cell with resulting functional impairment. In the differential diagnosis of ceroidosis with other disease, scleroderma has the closest roentgenographic similarity. Pseudoobstruction of the small bowel which can develop must be treated conservatively to avoid unnecessary bowel resection.
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http://dx.doi.org/10.2214/ajr.127.2.277 | DOI Listing |
Invest Ophthalmol Vis Sci
November 2024
Department of Ophthalmology, University of Rochester, Rochester, New York, United States.
Sci Rep
July 2024
Evotec SE, Hamburg, Germany.
Mutations in the lysosomal membrane protein CLN3 cause Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). Activation of the lysosomal ion channel TRPML1 has previously been shown to be beneficial in several neurodegenerative disease models. Here, we tested whether TRPML1 activation rescues disease-associated phenotypes in CLN3-deficient retinal pigment epithelial (ARPE-19 CLN3-KO) cells.
View Article and Find Full Text PDFAnim Genet
August 2024
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Neuronal ceroid lipofuscinoses (NCL) are among the most prevalent neurodegenerative disorders of early life in humans. Disease-causing variants have been described for 13 different NCL genes. In this study, a refined pathological characterization of a female rabbit with progressive neurological signs reminiscent of NCL was performed.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2024
Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Henan Provincial Key Laboratory of Pediatric Epilepsy and Immunology, Clinical Diagnosis and Treatment Center of Pediatric Neurological Diseases, Zhengzhou, Henan 450052, China.
Objective: To analyze the clinical data and genetic characteristics of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferritinemia cataract syndrome (HHCS).
Methods: A child who was admitted to the PICU of the First Affiliated Hospital of Zhengzhou University in November 2020 was selected as the study subject. Clinical data of the child was collected.
Ophthalmic Genet
April 2024
Fundación Destellos de Luz, San Pedro Garza García, México.
Background: Inherited retinal disorders (IRDs) are a complex group of heritable diseases which are characterized by rod, cone, retinal pigment epithelium, or optic nerve dysfunction. Recently, mutations in have also been associated with isolated IRDs. Herein, a case with heterozygous variations that had not been previously linked to a -isolated retinal degeneration (IRD) phenotype in a Hispanic female and its multimodal imaging findings across a 10-year follow-up are presented.
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