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NADH
Neuro Notes

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…

Teaching Points

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 wtmk
Neuro Notes

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…


Neuro Notes

Calciphylaxis

Clinical History: This 50-year old patient presented complaints of upper and lower extremity proximal and distal muscle weakness. They also…

M25-00400_FFPE_Masson_Trichrome
Neuro Notes

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…

Patient Resources

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…


frozen handE_3
Neuro Notes

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.…

Neuro Notes

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…

pompe disease - 3
Neuro Notes

Teenager with abnormal gait

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


Neuro Notes

Porphyria

Clinical History The patient is a 44-year-old woman with progressive, episodic weakness. Her past medical history includes erythropoietic porphyria and…

Neuro Notes

Perimysial elastin fibrils

Clinical History This 45-year old patient presented with complaints of muscle weakness. Prior genetic testing detected a heterozygous variant of…

Neuro Notes

Paraneoplastic dermatomyopathy

Clinical History This 65-year-old patient presented with bilateral symmetrical proximal upper and lower extremity muscle weakness, dysphagia and skin rash.…


Neuro Notes

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…

Neuro Notes

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…

Neuro Notes

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…