Clinical History
54-year-old woman. Family history negative for neuromuscular disease
- Longstanding (L>R) upper & lower extremity weakness
- Periodic falls & difficulty climbing stairs
Neuromuscular exam:
- Strength: Mild L proximal & distal weakness
What is your diagnosis?
A. Polyglucosan body
B. Brancher deficiency
C. CPOE
D. Hyaline body
Correct answer- Both A.Polyglucosan body and B. Brancher deficiency
Adult polyglucosan body myopathy
Inclusions in type II fibers, heart, brain & nerve :
- Weakly basophilic
- Oxidative enzyme negative
- PAS+/diastase resistant
- EM: ovoid fibrillary material, not membrane bound
Aka
- Glycogen storage disease, type IV (GSD4)
- branching enzyme deficiency
- Andersen disease
Reference(s) / additional reading:
DiMauro S, Spiegel R. Progress and problems in muscle glycogenoses. Acta Myol. 2011;30:96-102.
Quick note: This post is to be used for informational purposes only and does not constitute medical or health advice. Each person should consult their own doctor with respect to matters referenced. Arkana Laboratories assumes no liability for actions taken in reliance upon the information contained herein.
