Joubert's syndrome as a cause of cholestasis in children


  • V.S. Berezenko SI «Institute of Pediatrics, Obstetrics and Gynecology named after academical O.M. Lukyanova of the NAMS of Ukraine», Ukraine
  • H.Z. Mikhailyuk ДУ «Інститут педіатрії, акушерства і гінекології імені академіка О.М. Лук'янової НАМН України», Ukraine


Joubert syndrome, cholestasis, children


Literature review and a case report of Joubert syndrome in a preschool child are presented. This syndrome is accompanied by chronic intrahepatic cholestasis, characteristic facial dysmorphia, congenital malformations of the urinary system, eyes pathology, confirmed by a molecular genetic test of TMEM67 gene mutations. Diagnostic aspects of this pathology have been reviewed.

The clinical case description. Boy K was admitted to the pediatric hepatology department with respiratory and renal failure, decompensated acidosis. On admission, complaints included shortness of breath, severe itching, pale and dry skin, poor appetite and delayed physical development. On examination, dysembryogenic stigmas: large head circumference, elongated face, protruding forehead, high rounded eyebrows, deeply set eyes, hypertelorism, antimongoloid incision of the eyes, low auricles. The skin was pale, dry with the scratch marks on the arms and legs flexor surfaces. Ankles, wrists skin lichenification, bruising and hyperpigmentation was observed. Moderate palmar erythema, spider veins on the abdomen, watch-glass nails were present. The abdomen was enlarged due to hepatosplenomegaly. A clinical and paraclinical examination was conducted, the patient was consulted by related specialists. Based on the obtained data and molecular genetic examination, the diagnosis was made.

Conclusion. Joubert's syndrome may have a clinical presentation similar to that in cholestatic liver disease with typical clinical and laboratory symptoms. The molecular genetic testing is an important workup component in children with liver pathology combined with damage to other organs and systems. Successful treatment is possible providing a multidisciplinary approach used.

The study was conducted by the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of the abovementioned institution. Informed consent of the child's parents was obtained for the research.



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