! not to be confused with the Andersen syndrome which is a familial periodic paralysis with a congenital long QT

[MIM 232 500]

(glycogen storage disease type IV, amylopectinosis)

Very rare. Represents approximately 3 % of the glycogen storage diseases. Autosomal recessive transmission of a mutation of the GBE1 gene (3p12) causing a congenital deficiency in amylo-1, 4-1, 6-transglucosidase (or liver glycogen phosphorylase) resulting in the accumulation of an abnormal poorly branched glycogen, amylopectin or polyglucosan in tissues (liver and heart especially). It could trigger an immune reaction (of autoimmune type) directed against glycogen, specially in the liver (cirrhosis) and muscle (fibrosis).

Very heterogeneous clinical presentation:

 

1) classic form: normal child at birth; gradual onset of hypotonia and lethargy, hepatosplenomegaly with liver failure. Cirrhosis with portal hypertension and death in early childhood (unless liver transplantation).

2) neuromuscular forms:

-        clinical picture of "fetal akinesia deformation sequence": congenital arthrogryposis with pulmonary hypoplasia, craniofacial malformations, intrauterine growth delay, perinatal death 

-        form called "congenital": hypotonia, muscle atrophy, neurological problems, sometimes cardiomyopathy with rapid death

-        milder forms with cardiomyopathy and heart failure or muscle weakness

3) adult neurological forms, but found in a few children: "adult polyglucosan body disease" which could be more frequent in the Jewish ashkenase populations: late onset and progressive central nervous system involvement (motoneurons, similar to spinal muscular atrophy) and peripheral neuropathy, neurogenic bladder, dementia in 50 % of cases.

Anesthetic implications: 

hypoglycemia, liver failure, preoperative cardiac echography.

References : 

-        DiMauro S, Spiegel R. 
Progress and problems in muscle glycogenoses. 
Acta Myologica 2011; 30: 96-102.

Updated: November 2019