(Gentile syndrome)

see also, Joubert, syndrome and Nephronophtisis - [MIM 216 360]

Acronym for Cerebellar vermis aplasia, Oligophrenia, congenital Ataxia, ocular Coloboma and Hepatic fibrosis. Very rare. Autosomal recessive transmission of a mutation of the TMEM67 (85 %) and CC2D2A and RPGRIP1L genes.

Association of:

-         anomalies of the development of the midbrain structures: hypertelorism, nystagmus, coloboma of the optic nerve, hypoplasia or aplasia of the cerebellar vermis (ataxia); these defects as similar to those of Joubert syndrome and can cause irregular breathing; 

-         cholestasis with hepatic fibrosis/cirrhosis from the first months of life.

 

Moderate psychomotor retardation (in part linked to visual disturbances) and a progressive renal insufficiency with fibrocystes is often present. It is a form of akinetic nephronophthisis  (adult)

Anesthetic implications: 

check the liver and kidney functions; risk of portal hypertension; possible difficult intubation if macroglossia.

References : 

-        Herzog D, Martin S, Yandza T, Alvarez F. 
Hepatic insufficiency and liver transplantation in a patient with COACH syndrome. 
Pediatr Transplant 2002; 6: 443-6.

-        Weiland MD, Jones JK, Giles HW. 
COACH syndrome: an unusual cause of neonatal cholestasis. 
J Pediatr 2011; 158: 858-9.

Updated: March 2020