Lipoprotein lipase deficiency with visceral xanthomas.
Lipoprotein lipase deficiency (LLD) is a rare metabolic disorder that typically presents with skin xanthomas and pancreatitis in childhood. We report a case of LLD in an infant who presented with jaundice caused by a pancreatic head mass. Abdominal imaging also incidentally revealed hyperechoic renal masses caused by renal xanthomas. This appearance of the multiple abdominal masses makes this a unique infantile presentation of LLD.
Department of Radiology, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA. servaes@email.chop.edu
Sabah
S
Servaes
Richard
R
Bellah
Ritu
R
Verma
Bruce
B
Pawel
D006801:Humans; D007223:Infant; D007668:Kidney / Q000000981:diagnostic imaging*; D008071:Lipoprotein Lipase / Q000172:deficiency*; D008279:Magnetic Resonance Imaging; D008297:Male; D010179:Pancreas / Q000000981:diagnostic imaging*; D011859:Radiography; D014781:Viscera / Q000473:pathology; D014973:Xanthomatosis / Q000175:diagnosis* / Q000209:etiology*
D008071:Lipoprotein Lipase