TY - JOUR
T1 - Farber's disease type IV presenting with cholestasis and neonatal liver failure
T2 - Report of two cases
AU - Willis, Asha
AU - Van Huse, Cherie
AU - Newton, Kimberly P.
AU - Wasserstein, Melissa
AU - Morotti, Raffaella A.
PY - 2008/7
Y1 - 2008/7
N2 - We report 2 siblings diagnosed with Farber's disease type IV Type IV is a subtype of Farber's disease that presents in the neonatal period and usually initially lacks the triad of symptoms, including painful and deformed joints, subcutaneous nodules, and hoarse cry, classically seen in the other subtypes. While it is well known that all neonates with type IV present with hepatomegaly, a previously unrecognized presentation is that of cholestatic jaundice and rapidly evolving liver failure. We describe 2 siblings who presented with jaundice in the neonatal period and discuss the clinical data and variation in pathologic findings that should be considered for the diagnosis.
AB - We report 2 siblings diagnosed with Farber's disease type IV Type IV is a subtype of Farber's disease that presents in the neonatal period and usually initially lacks the triad of symptoms, including painful and deformed joints, subcutaneous nodules, and hoarse cry, classically seen in the other subtypes. While it is well known that all neonates with type IV present with hepatomegaly, a previously unrecognized presentation is that of cholestatic jaundice and rapidly evolving liver failure. We describe 2 siblings who presented with jaundice in the neonatal period and discuss the clinical data and variation in pathologic findings that should be considered for the diagnosis.
KW - Farber type IV
KW - Liver failure
KW - Neonatal cholestasis
UR - http://www.scopus.com/inward/record.url?scp=53549083521&partnerID=8YFLogxK
U2 - 10.2350/07-08-0318.1
DO - 10.2350/07-08-0318.1
M3 - Article
C2 - 17990940
AN - SCOPUS:53549083521
SN - 1093-5266
VL - 11
SP - 305
EP - 308
JO - Pediatric and Developmental Pathology
JF - Pediatric and Developmental Pathology
IS - 4
ER -