title: [Wolman's disease in an infant].
abstract: Wolman's disease is a rare inherited disorder of lipid metabolism in which large amounts of triglycerides and cholesteryl esters accumulate in the visceral organs. The main clinical features of the infantile form of the disease are failure to thrive, vomiting and diarrhoea, hepatosplenomegaly and radiological evidence of calcification of the adrenals. We were able to follow the course of this disease in a female turkish infant. It was first admitted because of a transient swelling within the right angle of mandible, subfebrile temperatures and abdominal distension as well as vomiting at the age of three days. After symptomatic treatment she was discharged home without a specific diagnosis. At the age of 4.5 months she was readmitted with severe hepatosplenomegaly, hypochromic anemia and fever of unknown origin. Calcifications of the adrenals and lymphocytic vacuoles led to the diagnosis of Wolman's disease. Deficiency of acid lipase activity in leucocytes could establish this diagnosis.
authors.affiliation: Kinderklinik, St. Vincenz-Krankenhaus, Paderborn.
authors.forename: W
authors.initials: W
authors.lastname: Storm
authors.forename: U
authors.initials: U
authors.lastname: Wendel
authors.forename: M
authors.initials: M
authors.lastname: Sprenkamp
authors.forename: A
authors.initials: A
authors.lastname: Seidler
mesh_terms: D000307:Adrenal Gland Diseases / Q000175:diagnosis; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D002114:Calcinosis / Q000175:diagnosis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D050356:Lipid Metabolism; D008214:Lymphocytes / Q000473:pathology; D002787:Sterol Esterase / Q000172:deficiency; D014617:Vacuoles / Q000648:ultrastructure; D015223:Wolman Disease / Q000175:diagnosis* / Q000235:genetics
chemical_list: D002787:Sterol Esterase
vernacular_title: Wolmansche Erkrankung bei einem Säugling.