Differentiating Gilbert Syndrome from Crigler Najjar Syndrome Type 2 by Phenobarbitone Test

Gilbert syndrome characterized by jaundice with intermittent elevations of indirect bilirubin, in the absence of haemolysis or underlying liver disease, has both autosomal dominant and recessive inheritance. Crigler-Najjar syndrome type II (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). We report 20 children between age 5 to 15 years with unconjugated hyperbilirubenemia who were given seven days of oral phenobarbitone (5mg/kg/day) and decrease in level of bilirubin was noted. There was only 30-40% reduction of bilirubin in Crigler Najjar Syndrome Type 2 compared to Gilberts Syndrome in which bilirubin level normalised. This case series highlights the importance of simple test to differentiate these two conditions. This test is also very helpful in a place where enzyme level and mutational study cannot be done.J Nepal Paediatr Soc 2015;35(1):82-84

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Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

10.22541/au.161953506.64936732/v1 ◽

2021 ◽

Author(s):

Zhi-yang Hu ◽

Sheng Mou Lin ◽

Meng-jie Zhu ◽

Cindy Ka-Yee CHEUNG ◽

Tao Liu ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Autosomal Dominant ◽

Genetic Disorder ◽

Nuchal Translucency ◽

Syndrome Type ◽

Pfeiffer Syndrome ◽

Broad Thumbs ◽

Increased Nuchal Translucency

Pfeiffer syndrome (PS) is a rare autosomal dominant genetic disorder characterized by craniosynostosis, broad thumbs / toes. Here we report a case of PS type 2 with increased nuchal translucency at early trimester.

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Gilbert syndrome in a young boy with thalassemia trait: a rare association

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20192046 ◽

2019 ◽

Vol 6 (3) ◽

pp. 1373

Author(s):

Debashree Priyadarshini ◽

Amit Kumar Satapathy ◽

Samarendra Mahapatro

Keyword(s):

Autosomal Recessive ◽

Index Case ◽

Provocation Test ◽

High Sensitivity ◽

Autosomal Recessive Inheritance ◽

Unconjugated Hyperbilirubinemia ◽

Gilbert Syndrome ◽

Bilirubin Metabolism ◽

History Of ◽

Thalassemia Trait

Gilbert syndrome (GS) is a mild benign disease characterized by asymptomatic unconjugated hyperbilirubinemia in absence of liver disease or hemolysis. This is the most common disorder associated with bilirubin metabolism with autosomal recessive inheritance. It usually precipitates during episodes of dehydration, fasting or stress like intercurrent illnesses. Here, we are reporting a case of Gilbert syndrome in 12 yrs old boy with thalassemia trait who presented with history of persistent jaundice for last 10 months. He had disproportionately higher concentration of unconjugated bilirubin which cannot be attributed to either disorder alone. Authors considered the possibility of Gilbert syndrome after ruling out hemolytic anemia. Though genetic testing is considered to be gold standard for diagnosis of Gilbert syndrome but availability is an issue. Calorie restriction test and nicotinic acid provocation test has been used to confirm GS too. Rifampicin test, another simple test which has been described in literature though not widely used in diagnosis. It has high sensitivity and specificity too. Authors had performed rifampicin test in our index case to confirm the diagnosis of GS. Here, authors wish to highlight the patients with both GS and thalassemia trait has higher bilirubin concentrations and is more likely to be icteric than either defect alone.

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