Farber's disease type IV presenting with cholestasis and neonatal liver failure: report of two cases.
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.
Willis
Asha
A
Department of Pediatrics and Pediatric Hepatology, Mount Sinai School of Medicine, New York, NY 10029, USA.
Vanhuse
Cherie
C
Newton
Kimberly P
KP
Wasserstein
Melissa
M
Morotti
Raffaella A
RA
D002779:Cholestasis / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D017093:Liver Failure / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D008297:Male