Choledochal cyst in a pediatric patient with Down syndrome, a diagnostic challenge

Introduction. Down syndrome (DS) is the most common chromosomal alteration. Mortality during the first year of life in this group is high. Newborns with this condition have a higher risk of developing cholestasis. Infants with DS can develop cysts. of common bile duct secondary to cholestasis, in pediatric patients common bile duct cysts are a rare pathology. Clinical Case. 9-month-old infant with a history of DS. On general physical examination, the skin and mucous membranes were generally moist and jaundiced, isochoric and photoreactive pupils, icteric sclerae, with hepatomegaly 3 cm below the costal margin and splenomegaly 2 cm from the rib cage, abdominal perimeter 49 cm. Laboratory and imaging studies, including cholangioresonance, are performed to confirm the diagnosis of Todani IVa choledochal cyst.Conclusions. In patients with Down syndrome who present a clinical picture of vomiting, abdominal pain and jaundice, the diagnosis of choledochal cyst should be considered. Cholangioresonance is the study that confirms the presence of a choledochal cyst. Our clinical case was evaluated by the surgery service and a surgical procedure was scheduled for resection of the cyst

Publication Details

Journal
Dialnet (Universidad de la Rioja)
Published
2025-01-01
Primary Topic
Pediatric Hepatobiliary Diseases and Treatments
Type
article
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article

Choledochal cyst in a pediatric patient with Down syndrome, a diagnostic challenge

Dialnet (Universidad de la Rioja)
Pediatric Hepatobiliary Diseases and Treatments
article

Choledochal cyst in a pediatric patient with Down syndrome, a diagnostic challenge

article en

Abstract

Introduction. Down syndrome (DS) is the most common chromosomal alteration. Mortality during the first year of life in this group is high. Newborns with this condition have a higher risk of developing cholestasis. Infants with DS can develop cysts. of common bile duct secondary to cholestasis, in pediatric patients common bile duct cysts are a rare pathology. Clinical Case. 9-month-old infant with a history of DS. On general physical examination, the skin and mucous membranes were generally moist and jaundiced, isochoric and photoreactive pupils, icteric sclerae, with hepatomegaly 3 cm below the costal margin and splenomegaly 2 cm from the rib cage, abdominal perimeter 49 cm. Laboratory and imaging studies, including cholangioresonance, are performed to confirm the diagnosis of Todani IVa choledochal cyst.Conclusions. In patients with Down syndrome who present a clinical picture of vomiting, abdominal pain and jaundice, the diagnosis of choledochal cyst should be considered. Cholangioresonance is the study that confirms the presence of a choledochal cyst. Our clinical case was evaluated by the surgery service and a surgical procedure was scheduled for resection of the cyst

Dialnet (Universidad de la Rioja)
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Pediatric Hepatobiliary Diseases and Treatments
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Choledochal cyst in a pediatric patient with Down syndrome, a diagnostic challenge · Dialnet (Universidad de la Rioja) (2025) | TGRS Research Map | TGRS