title: Hassab's operation for Joubert syndrome with congenital hepatic fibrosis: A case report.
abstract: BACKGROUND
  Joubert syndrome is characterized by psychomotor developmental delay, hypotonia, oculomotor abnormalities, occasional retinal dystrophy and cystic kidneys, and frequent and often, striking breathing abnormalities, especially in the neonatal period, with panting tachypnea followed by apnea. We report a case of Joubert syndrome with hepatic fibrosis, portal hypertension, and pancytopenia treated by Hassab's operation.
  
  
  METHODS
  Our patient was a 27-year-old woman with a history of tachypnea, muscle hypotonia, and psychomotor retardation shortly after birth and a diagnosis of Joubert syndrome at 2 years of age. At 19 years of age, she was diagnosed with progressive pancytopenia. At 27 years of age, she visited her local doctor for sudden-onset hematemesis. Endoscopy revealed esophageal varices exhibiting the red color sign and no evidence of recent bleeding. Splenomegaly and development of portal collateral circulation were observed on computed tomography scans. The patient was referred to our hospital, where she was diagnosed with Joubert syndrome and hepatic fibrosis, portal hypertension, and hypersplenism. After performing Hassab's operation, the pancytopenia improved, but anticoagulant therapy was required for splenic vein thrombosis. The patient was discharged on postoperative day 25. Two years following surgery, the gastroesophageal varices were controlled, and no progression of the splenic vein thrombosis or hepatic failure was evident.
  
  
  CONCLUSIONS
  This is the first case report of Hassab's operation for congenital hepatic fibrosis in a patient with Joubert syndrome, a rare congenital condition. We achieved a favorable clinical outcome.
authors.affiliation: Division of Advanced Surgical Science and Technology, Tohoku University Graduate School of Medicine, 2-1, Seiryo-cho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan. Electronic address: miyazawa_koji@yahoo.co.jp.
authors.forename: Koji
authors.initials: K
authors.lastname: Miyazawa
authors.affiliation: Division of Advanced Surgical Science and Technology, Tohoku University Graduate School of Medicine, 2-1, Seiryo-cho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Hara
authors.affiliation: Division of Advanced Surgical Science and Technology, Tohoku University Graduate School of Medicine, 2-1, Seiryo-cho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Shimizu
authors.affiliation: Division of Advanced Surgical Science and Technology, Tohoku University Graduate School of Medicine, 2-1, Seiryo-cho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.
authors.forename: Wataru
authors.initials: W
authors.lastname: Nakanishi
authors.affiliation: Division of Advanced Surgical Science and Technology, Tohoku University Graduate School of Medicine, 2-1, Seiryo-cho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.
authors.forename: Kazuaki
authors.initials: K
authors.lastname: Tokodai
authors.affiliation: Division of Advanced Surgical Science and Technology, Tohoku University Graduate School of Medicine, 2-1, Seiryo-cho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.
authors.forename: Chikashi
authors.initials: C
authors.lastname: Nakanishi
authors.affiliation: Division of Advanced Surgical Science and Technology, Tohoku University Graduate School of Medicine, 2-1, Seiryo-cho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.
authors.forename: Shigehito
authors.initials: S
authors.lastname: Miyagi
authors.affiliation: Division of Advanced Surgical Science and Technology, Tohoku University Graduate School of Medicine, 2-1, Seiryo-cho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Kawagishi
authors.affiliation: Division of Advanced Surgical Science and Technology, Tohoku University Graduate School of Medicine, 2-1, Seiryo-cho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.
authors.forename: Noriaki
authors.initials: N
authors.lastname: Ohuchi
keywords: Congenital hepatic fibrosis; Gastroesophageal varices; Hassab’s operation; Joubert syndrome; Joubert syndrome and related disorders; Portal hypertension