TJP2 Deficiency Presenting as High γ-Glutamyl Transferase (GGT) Neonatal Cholestasis and Mimicking Biliary Atresia: A Case Report

Abstract

The authors report no conflicts of interest. A.S. worked up the case, reviewed the literature, and drafted the case report. S.D.reviewed the literature and drafted the case report. N.M. worked up and followed up the case, facilitated molecular diagnosis, and critically analyzed the article. A.R. operated the case and facilitated diagnosis. N.M. is the guarantor.

Liver transplantation in tight junction protein‐2 deficiency associated liver disease

“…Nothing to report. Jagadeesh Menon 1 Naresh Shanmugam 1 Mukul Vij 2 Ashwin Rammohan 3 Mohamed Rela 3 1…”

“…Although rare, such a biochemical finding indicates that PFIC-IV should not be excluded in the differential diagnosis of patients with high GGT cholestasis. [3] Because of the presence of extrahepatic manifestations, presentation of PFIC-IV and PFIC-I bear similarities. Hearing defects are known to occur in TJP-2 deficiency.…”