[MIM 210 100, 214 110, 614 859, 614 862, 614 866, 614 870, 614 872, 614 876, 614 882]

(Cerebro-hepato-renal syndrome)

Rare: prevalence about 1/50,000. Caused by a mutation of one of the 13 PEX genes that code for the synthesis and expression of peroxisomes. The most common cause is the autosomal recessive transmission of a mutation of the PXR1 gene on chromosome 12. This peroxisomal disease results from absence of peroxisomes and anomaly of the β-oxidation of very long chain fatty acids (C24 and C26) and their accumulation. 

Association of:

-         facial dysmorphism: bulging forehead with a large anterior fontanel, flat occiput, micrognathia,  sliding up and out palpebral fissures, flat face, hypoplastic orbital margins  

-         hypotonia, 

-         convulsions, 

-         deafness, 

-         hepatomegaly with cholestasis and later liver failure (early cirrhosis), 

-         diarrhea with malabsorption, 

-         epiphyseal (pitted epiphyses), and patellar calcifications 

-         ocular disorders: cataract, glaucoma, retinitis pigmentosa, optic nerve atrophy

-         renal cysts, hydronephrosis

-         genital anomalies: hypospadias, clitoromegaly.

In general, deaths in the first year of life.

Anesthetic implications: 

hypotonia with risk of respiratory failure; gastroesophageal reflux and risk of aspiration pneumonia. Liver failure or cirrhosis. Risk of adrenal insufficiency in case of stress

References : 

-        Platis CM, Kachko L, Peled E, Katz J. 
Anesthesia for the child with Zellweger syndrome : a case report. 
Pediatr Anesth 2006; 16: 361-2.

-        Hedjoudje A, Torre S, Bekri S, Guerrot A-M, Ickowicz V, Dacher J-N, Vivier P-H.
Syndrome de Zellweger.
Arch Pédiatr 2017 ; 24 : 689-91.

Updated: July 2017