Koji Miyazawa

Division of Advanced Surgical Science and Technology, Tohoku University Graduate School of Medicine, 2-1, Seiryo-cho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.

Biography

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.