1/ What is the best pathologic diagnosis? Clinical history in thread.

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1/ This 50-year-old patient presented with a one yearhistory of of persistent muscle weakness. They also had shortness of breath with exertion.

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(1/2) The patient is a 69-year-old male who presented with complaints of proximal lower extremity muscle weakness and BMI of 37. His home medication list includes atorvastatin. Bilateral thigh biopsies were performed to evaluate for myopathy.

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(1/3) This 40-year-old patient underwent sural nerve biopsy to evaluate for a painful mixed large fiber and small fiber axonal neuropathy. The biopsy showed light microscopic features of a chronic active axonopathic process.

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(1/2) Muscle biopsy from this 40-year-old patient showed morphologic and enzyme histochemical features of denervation.

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Answer choices:
A.) PCR fragment analysis of CNBP
B.) Muscular dystrophy gene panel
C.) PCR fragment analysis of DPMK
D.) Myositis specific antibody panel

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Which genetic test is required to establish the diagnosis in this 59-year-old with distal muscle weakness, mild myotonia, and persistently elevated CPK values (200-300 U/L)?

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Muscle fiber typing was performed with dual immunohistochemical staining for fast and slow myosin heavy chains (MHCf-brown / MHCs-red).

What do the fibers showing intermediate staining (reddish-brown) represent?

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This previously healthy 35-year-old patient presented with proximal upper and lower extremity weakness and myalgias. Laboratory studies showed normal CPK. The patient's home medication is negative for myotoxic medications.

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(1/3) The patient is a 76-year-old man with numerous complaints including weakness, myalgia, arthralgia, back pain radiating down bilateral legs, cramps and twitching, imbalance, speech disorder, difficulty walking, and numbness.

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This 75-year-old patient presented with slowly progressive generalized muscle weakness of approximately 2 years’ duration.

What is your diagnosis based images from figures #1 - #4?

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Teenage male with normal developmental milestones but difficult playing sports or running.

What is your diagnosis? 

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2/ Brain MRI was normal. A biopsy was performed.

What is your diagnosis based on H&E, immunohistochemical (EMA, GFAP and KI67) and MYCN FISH images?

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1/ This 50-year old patient presented complaints of upper and lower extremity proximal and distal muscle weakness. They also related recent painful skin lesions.

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1/ This 45-year-old patient underwent muscle biopsy to evaluate for muscle weakness. The biopsy showed denervation type changes (neurogenic atrophy). An unusual looking muscle fiber was noted on paraffin sections.

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1/ The 21-year-old patient presented with skin rash and proximal upper and lower extremity weakness of several weeks duration. Laboratory studies showed elevated CPK (12000 to 14000 range).

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Teenage male with normal developmental milestones but difficulty playing sports or running.

What is the diagnosis? Check the thread for more diagnostic images 👇

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The patient is a 16 year old male with a longstanding gait abnormality. Genetic testing reveals a pathological mutation.

What is the diagnosis?

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