Pediatr Gastroenterol Hepatol Nutr.  2014 Dec;17(4):266-269. 10.5223/pghn.2014.17.4.266.

Coexistence of Gilbert Syndrome and Hereditary Spherocytosis in a Child Presenting with Extreme Jaundice

• Lee JH
• Moon KR

• KMID: 2315504
• DOI: http://doi.org/10.5223/pghn.2014.17.4.266

Abstract

Gilbert syndrome is the most common inherited disorder of bilirubin glucuronidation. It is characterized by intermittent episodes of jaundice in the absence of hepatocellular disease or hemolysis. Hereditary spherocytosis is the most common inherited hemolytic anemia and is characterized by spherical, osmotically fragile erythrocytes that are selectively trapped by the spleen. The patients have variable degrees of anemia, jaundice, and splenomegaly. Hereditary spherocytosis usually leads to mild-to-moderate elevation of serum bilirubin levels. Severe hyperbilirubinemia compared with the degree of hemolysis should be lead to suspicion of additional clinical conditions such as Gilbert syndrome or thalassemia. We present the case of a 12-year-old boy with extreme jaundice and nausea. The diagnosis of hereditary spherocytosis was confirmed by osmotic fragility test results and that of Gilbert syndrome by genetic analysis findings.

Keyword

Gilbert disease; Hereditary spherocytosis; Jaundice

MeSH Terms

Anemia
Anemia, Hemolytic
Bilirubin
Child*
Diagnosis
Erythrocytes
Gilbert Disease*
Hemolysis
Humans
Hyperbilirubinemia
Jaundice*
Male
Nausea
Osmotic Fragility
Spleen
Splenomegaly
Thalassemia
Bilirubin

Figure

• 

  Fig. 1 Peripheral blood smear showed small and dense spherocytes (Wright & Giemsa stain, ×400).

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