3-Month-Old Boy with Generalized Hypotonia, Weakness, Pneumonia and Respiratory Failure
Fig. 31.1 SMA type 1 . (a) H&E and (b) ATPase at pH 9.4 are images from the rectus abdominis muscle biopsy performed at age of 3 months. (c) H&E of spinal…
6-Year-Old Girl with Muscle Pain and Swelling in the Thighs
Fig. 23.1 Quadriceps muscle biopsy from this patient. (a) H&E stain, arrows point to the macrophages in perimysium and endomysia connective tissue with granular basophilic cytoplasm. (b) Nonspecific esterase stain,…
6-Year-Old Boy with Respiratory and Feeding Difficulties at Birth, Delayed Gross Motor Milestones, and Facial and Proximal Lower Limb Weakness
Fig. 29.1 Representative images from a separate 10-year-old boy with RYR1 mutation. (a) H&E stain shows marked fiber size variation. (b) NADH-TR stain shows well demarcated central cores in type…
53-Year-Old Woman with Proximal Limb Weakness and Marked CK Elevation
Fig. 7.1 Hematoxylin & eosin (HE) statin shows abundant necrotic fibers and myophagocytosis (arrows), increased fiber size variation with many polygonal atrophic fibers, and endomysial and perimysial fibrosis. Alkaline phosphatase…
52-Year-Old Man with Proximal Limb Weakness and Hand Stiffness
Fig. 12.1 Quadriceps muscle biopsy from the present patient. HE stain shows increased fiber size variation with a few atrophic and hypertrophic fibers, and numerous internal nuclei. Many fibers contain…
65-Year-Old Man with Asymmetrical Leg Weakness and Foot Tingling
Fig. 17.1 Myofibrillar myopathy. (a) H&E stain. (b) Gomori trichrome stain. (c) NADH-TR stain. (d) ATPase stain at pH 9.4. (e) Desmin immunostain. (f) Granulofilamentous material on electron microscopy Final Diagnosis…
35-Year-Old Man with Pain and Numbness in the Left Lateral Thigh
Fig. 42.1 PGP9.5 immunostaining shows normal cutaneous innervation with many intraepidermal nerve fibers (arrows) present at the unaffected right proximal thigh (a), but no intraepidermal nerve fibers are seen at…
40-Year-Old Woman with Patchy Painful Paresthesia
Fig. 40.1 PGP9.5 immunostaining of skin biopsy sections shows reduced intraepidermal nerve fiber densities at the left distal leg (a), distal thigh (b) and proximal thigh (c) with no distal-to-proximal…
51-Year-Old Woman with Long-Standing Exercise Intolerance
Fig. 13.1 Glycogen storage myopathy. (a), H&E stain shows many fibers containing subsarcolemmal vacuoles or blebs (arrows). (b), EM shows striking subsarcolemmal glycogen accumulations (arrows) Additional Investigation After the Muscle…
68-Year-Old Man with Progressive Lower Limb Numbness and Weakness and Urinary Incontinence
Fig. 38.1 (a), Intravascular lymphoma in an endomyseal blood vessel (arrow). Tumor cells distend the vascular lumen, have large nuclei and prominent nucleoli; these features are typical of a large…
