1. Diagnostic Challenge Pathology for Neurosurgery & Neurology Residents Department of Pathology University of Oklahoma Health Sciences Center, Oklahoma City, OK, U.S.A. Case 10 History: The patient was a 76 year old right-handed black male who experienced progressive weakness in both arms and hands for the past few years. According to the patient, his shoulders became weak at first. He also had difficulty in getting up from a seating position, deviation on flexion of his fingers, and numbness of his hands when they were cold. There was no pain in his back, arms and legs. He denied any numbness or tingling of his legs or bowel/bladder incontinence. He had intermittent constipation and experienced recent changes in bowel habits. There was no history of trauma or falls. He underwent shoulder surgery about 18 months ago but the symptoms of his shoulder did not improve. His past medical history included hypertension and increased cholesterol level. He used to smoke cigars. For the past 20 some years he had 2-3 glasses of wine each night, but stopped in about 9 months ago. He was married for 40 years with no children, widowed in about 18 years ago and lived alone. The patient was also diagnosed for depression in the past.

2. Physical examination revealed weight loss, weakness of arms, and stiffness of joints. He showed no cognitive deficiency and had normal cerebellar function. Muscles in the arm and hands were atrophic. He had significant weakness of upper extremities and the muscle strength is 2/5 in deltoid, 3/5 in biceps and triceps, and 3/5 in brachioradialis, 3/5 in wrist flexion and extension. He had ulnar palsy in hands for over 10 years with the left side more affected than the right. Significant weakness in the muscle of the hands was also noted. There was no pain in the shoulders on palpation. Muscle strength in lower extremities was 5/5 in all muscles except for 4/5 in iliopsoas. The patient could squat up and down without much difficulty. Sensory functions were intact in proprioception and light touch. There was bilateral decrease in pinprick below the knees. Reflexes were trace in upper extremities and were 2/4 knee jerk and 1/4 ankle jerk. There were no pathologic reflexes. The functions of cranial nerve II to XII were intact. There was good, function in the sternocleidomastoid muscles, but atrophic latissimus dorsi, trapezius, infraspinatus and supraspinatus muscle. He had percussion tenderness of his bilateral ulnar cubital tunnels and right median tunnel. Cervical and lumbar spines had full range of movement and were nontender. CT scan of C- spine showed spondylosis in C3-7. Head CT showed mild brain atrophy. Electromyogram and nerve conduction studies of upper extremities were reported as suggestive of motor axonopathy. Laboratory studies demonstrated slight elebation of rheumatoid factor to16.3, the sedimentation rate was 13, creatine kinase in serum was 171, and Lyme’s test was negative. A muscle biopsy was perform as part of his workup. Contributor: Jiang Qian, M.D., Ph.D., karming-fung@ouhsc.edu Last updated: 1/9/2009karming-fung@ouhsc.edu

3. AB Hematoxylin and Eosin

4. CD Modified Gomori’s trichromeNADH-TR

5. EF ATPase at pH 9.4

6. Immunohistochemistry for Desmin G H IJ

7. KL

8. What is your diagnosis?

9. Diagnosis: Desminopathy. Discussion: Please see COM 410-1 for full discussion of this case. (Please click on COM 410-1 in slide show mode in order to go to that webpage).COM 410-1