A 70 year old man presented with progressive weakness in all extremities, dementia, and constipation about one year ago. Additionally, he complained of bilateral shoulder pain and urinary frequency but did not mention any other urinary symptoms, such as incontinence. He had no family history of neurological disease and no history of seizure or toxin exposure. He was alert, and mental function was preserved on orientation, attention, judgment, immediate and recent memory, but was impaired on delayed recall memory and calculation (MMSE score: 22). Cranial nerve examination was normal. Mild to moderate motor weakness was noted in all extremities (GIII ~ GIV, both proximal & distal). Sensation was intact in all modalities. Deep tendon reflex was decreased; bilateral knee and ankle jerk were nearly absent. Electrodiagnostic studies showed sensorimotor polyneuropathy. A brain MRI showed diffuse white matter and ischemic changes in bilateral deep parietal area, and a focal signal intensity increase in the left dentate nucleus of cerebellum (). Hematological results were normal. ESR was 60mm/hr (normal; 0-10mm/hr), CRP was 63.4mg/L (normal; 0-5.3mg/L). Other serological test results were as follows: ganglioside Ab IgG, HTLV I/II Ab, lupus anticoagulant, anti-phospholipid Ab IgG, IgM, anti-SS-A/Ro, anti-SS-B/Ra, ANA titration, ANA IFA, anti-DNA IFA, anti-HIV I/HIV II, and oligoclonal banding were all negative. The patient's CK level was 6U/L (normal; 35-232U/L), and LD was 352U/L (normal; 225-455U/L). CSF study showed normal findings. Electroencephalography readings were normal. Pathologic study of the left vastus lateralis revealed the presence of polyglucosan bodies in small peripheral nerves of the perimysium, consisting of diastase-resistant glucose polymers when stained with PAS ().
Magnetic resonance imaging of the brain showed diffuse white matter ischemic changes in bilateral deep parietal area (A and B), and focal increased signal intensity at left side dentate nucleus of cerebellum (C).
Pathological findings revealed a few polyglucosan bodies in peripheral nerves of perimysium (A & B) (× 400).