Pediatr Gastroenterol Hepatol Nutr.  2012 Jun;15(2):117-121.

A Case of Idiopathic Congenital Neonatal Cholestasis in a Patient with Down Syndrome

• Huh TE
• Do HJ
• Park JS
• Yeom JS
• Park ES
• Seo JH
• Lim JY
• Park CH
• Woo HO
• Youn HS

Abstract

Down syndrome is a rare cause of neonatal cholestasis. Neonatal cholestasis in a patient with Down syndrome is usually associated with severe liver diseases, such as neonatal hemochromatosis, myeloproliferative disorder and intrahepatic bile duct paucity. We experienced a case of idiopathic neonatal cholestasis in a patient with Down syndrome, which resolved spontaneously.

Keyword

Down syndrome; Cholestasis; Neonate

MeSH Terms

Bile Ducts, Intrahepatic
Cholestasis
Down Syndrome
Hemochromatosis
Humans
Infant, Newborn
Liver Diseases
Myeloproliferative Disorders
Hemochromatosis

Figure

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  Fig. 1 The patient showed flat face, low nasal bridge, protruding tongue and short neck.

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  Fig. 2 The liver and spleen could be palpated softly about 3 cm and 2 cm below the costal margin.

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  Fig. 3 Hematoxylin-Eosin stained tissue section showed an intact portal tract and severe cholestasis, but a lack of fibrosis, cellular infiltration or abnormal biliary tract (× 400).

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  Fig. 4 These figures show changes of liver function tests in the patient. (A) The levels of aspartate aminotransferase (AST) and alanine aminotransferase (ALT) rose during 1 month and decreased to normal range at 2 months. (B) The levels of serum total (T) and direct (D) bilirubin (bil) showed a plateau around 1-month-of-age.

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