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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

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
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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. 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.
作者 Laila Essabar Hajar Rghouda Saloua Dahri Layachi Chabraoui Latifa Chat Yamna Kriouile Laila Essabar;Hajar Rghouda;Saloua Dahri;Layachi Chabraoui;Latifa Chat;Yamna Kriouile(Departement of General Pediatric II-Pediatric Neurology Unit, Rabat Children’s Hospital, Rabat, Morocco;Central Laboratory of Clinical Biochemistry, Hospital Ibn Sina, Rabat, Morocco;Departement of Pediatric Radiology, Rabat Children’s Hospital, Rabat, Morocco)
出处 《Journal of Biosciences and Medicines》 2016年第12期126-131,共7页 生物科学与医学(英文)
关键词 Cystic Duct Choledochal Cyst TYROSINEMIA CHOLESTASIS NTBC NEONATE Cystic Duct Choledochal Cyst Tyrosinemia Cholestasis NTBC Neonate
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