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Pompe disease in teenage male
Clinical History: Teenage male with normal developmental milestones but difficulty playing sports or running. What is the diagnosis? Here are…
Oxalate-induced nephropathy from ingestion of oxalic acid used miticide in beekeeping
Polarizable calcium oxalate microcrystals in a 16-year-old who ingested a small volume (<10 mL) of oxalic acid solution + grain…
MYCN-amplified spinal ependymoma
Clinical History: This 40-year-old patient has increasing back pain and lower extremity paraparesis. MRI of the cervical and lumbar spine…
Calciphylaxis
Clinical History: This 50-year old patient presented complaints of upper and lower extremity proximal and distal muscle weakness. They also…
Split muscle fiber
Clinical History This 45-year-old patient underwent muscle biopsy to evaluate for muscle weakness. The biopsy showed denervation type changes (neurogenic…
APOL1-Mediated Kidney Disease
What is APOL1-mediated kidney disease? APOL1-mediated kidney disease is a form of kidney diseases associated with changes that are known…
Partially necrotic and regenerating myofibers
Clinical History The 21-year-old patient presented with skin rash and proximal upper and lower extremity weakness of several weeks duration.…
Teenager with difficulty playing sports
Clinical History Teenage male with normal developmental milestones but difficulty playing sports or running. What’s the diagnosis? Here are the…
Teenager with abnormal gait
Clinical History The patient is a 16 year old male with a longstanding gait abnormality. Genetic testing reveals a pathological…
Porphyria
Clinical History The patient is a 44-year-old woman with progressive, episodic weakness. Her past medical history includes erythropoietic porphyria and…
Perimysial elastin fibrils
Clinical History This 45-year old patient presented with complaints of muscle weakness. Prior genetic testing detected a heterozygous variant of…
Paraneoplastic dermatomyopathy
Clinical History This 65-year-old patient presented with bilateral symmetrical proximal upper and lower extremity muscle weakness, dysphagia and skin rash.…
Oligosarcoma
Clinical History This 43-year-old patient presented with complaints of worsening right-sided weakness. Neuroimaging demonstrated a 1.8 x 1.5 x 1.5…
Eosinophilic granulomatosis with polyangiitis (EGPA; previously Churg-Strauss Syndrome)
Clinical History The patient is a 62-year-old woman with asthma, GERD, moderate alcohol intake, and hypertension who presents with 4…
Spinal muscular atrophy with 3 month old hypotonic patient
Clinical History Patient is a 3-month-old girl born at 37.5 week, and born hypotonic with minimal movements and some hand…