[MIM 204 500]

(Late ceroid infantile neuronal lipofuscinosis)

Lysosomal disease. Late infantile neuronal ceroid lipofuscinosis (CLN 2). Autosomal recessive transmission of a mutation of the TPP-1 gene (tripeptidyl-peptidase) on 11p15.

Onset between the age of 2 and 4 years with convulsions, loss of acquisitions and myoclonic ataxia; loss of vision appears around 4 to 6 years; life expectancy: from 6 years to early adolescence. Occasionally associated with myoclonus linked to movement  action and cerebellar ataxia. Amyotrophy.

Anesthetic implications:

risk of hypothermia under anesthesia. Management of an anesthesia for an epileptic patient.

References : 

-        Yamada Y, Doi K, Sakura S, Saito Y. 
Anesthetic management for a patient with Jansky-Bielchowsky disease. 
Can J Anesth 2002; 49: 81-3.

Updated: March 2019