An Unusual and Previously Unreported Association between Tyrosinemia Type 1 and an Extremely Rare Variation of Congenital Cystic Dilatation: TODANI’s VI Cystic Duct Cyst: Report of a Case

摘要

Cystic duct cysts are rare lesions, and type VI of TODANI’s modified classification is the rarest subtype with only sporadic case reports in the literature. The following report describes the coexistence of this entity and type 1 tyrosinemia in a one month-old infant referred to our department for etiological investigations of prolonged neonatal cholestasis. To the best of our knowledge, we report herein the first case in the literature describing this association. Cystic duct abnormalities should be considered in the differential diagnosis of neonatal cholestases, however further investigations should be performed to exclude associated life-threatening conditions such as metabolic disorders including tyrosinemia.