Read case histories A through E. Write your diagnoses below.
Case A
Case B
Case C
Case D
Case E
Match the case histories to images 66-70.

66 67 68 69 70

#67 is a thin plastic section of nerve stained with toluidin blue. #69 is a section of muscle with a histochemical-ATPase-stain.

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Case A

A boy who was normal from birth through the first year of life, began to walk at 15 months and always had a waddling gait. He was never able to run as well as other children did. By the time he was 3 years old, he could not get up from the floor without pushing on his knees. At age 5, he could not climb stairs and began to walk on his toes. His calf muscles were bulky and felt rubbery. He was a slow learner at kindergarten. Serum CK was 2,735 (normal 3-35). His mother had a CK of 73. A muscle biopsy was done. A maternal uncle died of a similar disease at 15 years of age.

Case B
A 45-year-old woman had some clumsiness of the right hand for three months. Her elbows, shoulders, knees, and thighs ached. About four weeks following the onset of these symptoms, she began to have difficulty swallowing solid food. She fell easily, could not climb stairs without supporting herself with her hands, and could not get out of a low chair by herself. Sensation was intact. CK was 887 (normal 3-35) and sedimentation rate 42. A muscle biopsy was done.

Case C
Two weeks after having the flu, this pregnant (first trimester) woman noted tingling of her hands and weakness of the legs. The weakness progressed rapidly and in 9 days she was bedridden, unable to move against gravity or even shut her eyes. Initially, the diagnosis of ‘hysterical reaction” was made, but she developed difficulty breathing, had a tracheostomy, and was put on a respirator. CSF was clear with glucose 81, protein 128, and 1 WBC. She had a cardiac arrest and died four weeks after the onset of her illness. She remained paralyzed until her death.

Case D
A 15-year-old boy had bilateral high arch feet, weakness and atrophy of the legs and mild weakness of the arms. He had no sensory loss or ataxia. CK was normal. His grandfather, father, and uncle had a similar condition.

Case E
A baby girl, one of twins, was 2 pounds 11 ounces at birth. During pregnancy, no fetal movement was felt by the mother until the eighth month. As a newborn, she was hypotonic. She developed slowly, and, at six months of age, she was unable to lift her head or roll over. CK was normal. At 12 months, she was extremely weak and hypotonic. Spontaneous movements were apparent only in the hands and arms. Fasciculations of the tongue were noted. Her twin brother and another sibling died of a similar disease. Six other siblings are normal.

ALL LECTURE PODCASTS ARE EMBEDDED IN THEIR RESPECTIVE NEUROPATHOLOGY PAGES AND CAN ALSO BE FOUND ON THE VIMEO CHANNEL "DIMITRI AGAMANOLIS NEUROPATHOLOGY"