Intestinal lymphangiectasia in a patient with Zellweger cerebrohepatorenal syndrome. 1995

G Erdem, and O Oran, and E Kotiloğlu, and G Kale, and M Topçu, and Y Renda
Department of Pediatrics, Hacettepe University Children's Hospital, Ankara, Turkey.

Zellweger cerebrohepatorenal syndrome (ZWCHRS) is an autosomal-recessive disease, characterized by the absence or profound deficiency of peroxisomes. We report a case of ZWCHRS with intestinal lymphangiectasia, observed as an autopsy finding. This combination is previously unreported.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008201 Lymphangiectasis, Intestinal Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by DIARRHEA; HYPOPROTEINEMIA; peripheral and/or abdominal EDEMA; and PROTEIN-LOSING ENTEROPATHIES. Intestinal Lymphangiectasis,Lymphangiectasia, Intestinal,Intestinal Lymphangiectases,Lymphangiectases, Intestinal
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015211 Zellweger Syndrome An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis. Cerebrohepatorenal Syndrome,Zellweger-Like Syndrome,Cerebro-Hepato-Renal Syndrome,PBD, ZSS,Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum,Zellweger Disease,Zellweger Spectrum,Zellweger Syndrome Spectrum,Zellweger's Syndrome,Cerebro Hepato Renal Syndrome,Spectrum, Zellweger,Zellweger Like Syndrome

Related Publications

G Erdem, and O Oran, and E Kotiloğlu, and G Kale, and M Topçu, and Y Renda
February 1985, The New England journal of medicine,
G Erdem, and O Oran, and E Kotiloğlu, and G Kale, and M Topçu, and Y Renda
January 1985, Pediatric pathology,
G Erdem, and O Oran, and E Kotiloğlu, and G Kale, and M Topçu, and Y Renda
November 1976, Lancet (London, England),
G Erdem, and O Oran, and E Kotiloğlu, and G Kale, and M Topçu, and Y Renda
November 1995, Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery,
G Erdem, and O Oran, and E Kotiloğlu, and G Kale, and M Topçu, and Y Renda
July 1972, The American journal of roentgenology, radium therapy, and nuclear medicine,
G Erdem, and O Oran, and E Kotiloğlu, and G Kale, and M Topçu, and Y Renda
October 1985, Proceedings of the National Academy of Sciences of the United States of America,
G Erdem, and O Oran, and E Kotiloğlu, and G Kale, and M Topçu, and Y Renda
January 1983, Ultrastructural pathology,
G Erdem, and O Oran, and E Kotiloğlu, and G Kale, and M Topçu, and Y Renda
April 2021, Archivos argentinos de pediatria,
G Erdem, and O Oran, and E Kotiloğlu, and G Kale, and M Topçu, and Y Renda
December 1983, American journal of medical genetics,
G Erdem, and O Oran, and E Kotiloğlu, and G Kale, and M Topçu, and Y Renda
September 2017, International journal of dermatology,
Copied contents to your clipboard!