Hassab’s operation for Joubert syndrome with congenital hepa
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Abstract :

Introduction :
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.

Presentation of case :
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.......

http://www.casereports.com/article/S2210-2612(17)30168-2/fulltext?rss=yes
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