glycogen storage disease
Glycogen storage disease (GSD) refers to a number of syndromes which are characterized by a defect in synthesis, metabolism or storage of glycogen.
There are many types of GSD:
- type I: von Gierke disease
- type II: Pompe disease
- type III: Cori or Forbes disease
- type IV: Andersen disease
- type V: McArdle disease
- type VI: Her disease
- type VII: muscle phosphofructokinase deficiency (Tarui disease)
- type IX
- type XI: Fanconi-Bickel syndrome
- type XII
- type 0
Note that types VIII and X are not on the list since they have now been reclassified.
They can also be broadly grouped into myopathic, hepatic and miscellaneous forms depending on the site of predominant organ involvement.
Imaging appearances vary according to the type. Hepatomegaly is seen in the hepatic subtypes along with increased echogenicity (US) and density (CT) .
- vascular calcification
- coarsened hepatic echotexture
- differential diagnosis of osteoporosis
- hyperdense Leber
- hyperechoic liver
- fetal akinesia / hypokinesia sequence
- brain calcifications in glycogen storage disease
- generalised increased liver echogenicity
- Morbus Wilson zerebral