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Bouveret syndrome is an unusual complication of cholelithiasis which results in upper gastrointestinal obstruction due to a gallstone impacted in the duodenum through a bilio-enteric fistula. We present this rare entity which was primarily diagnosed on magnetic resonance (MR) and MR cholangiopancreaticography (MRCP) study.

We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement. Mutation analysis revealed compound heterozygous missense mutation in the known gene TMEM67 (also called MKS3).

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