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Ganglioglioma, BRAF V600E-Mutated

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BRAF V600E
Young adult female with a ganglioglioma (GG) in the right temporal lobe. Figure 1 is an MRI Brain image in the T1 sequence post-contrast in the coronal plane, which demonstrates a ~4 cm multicystic mass in the medial right temporal lobe with a solid mural nodular component with heterogeneous enhancement of the solid portions and cystic rim. Calcifications are noted along with the septal and wall components (not well demonstrated in the image shown).  Figure 2 is a hematoxylin and eosin (H&E)-stained section of formalin-fixed paraffin-embedded (FFPE) tissue demonstrating a low-grade glioneuronal tumor containing a dysplastic ganglion cell with a...
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Ganglioglioma, WHO grade I

Article
Ganglioglioma tumor MRI scan
  Young adult female with headache and a cystic brain tumor in the right temporal lobe.  Figure 1 is an MRI Brain image in the T1 sequence post-contrast in the axial plane, which demonstrates a ~4 cm multicystic mass in the medial right temporal lobe with a solid mural nodular component with heterogeneous enhancement of the solid portions and cystic rim.  Calcifications are noted along with the septal and wall components (not well demonstrated in the image shown).  Figure 3 is a hematoxylin and eosin (H&E)-stained section of formalin-fixed paraffin-embedded (FFPE) tissue demonstrating a low-grade glioneuronal tumor containing dysplastic ganglion...
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Lobulated Muscle Fibers with Wedge-shaped Accumulations of Mitochondria

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Wedge-shaped Accumulations of Mitochondria
Figure 1 and 2: Lobulated Muscle Fibers with Wedge-shaped Accumulations of Mitochondria. Frozen sections of skeletal muscle stained with NADH-TR preparation (A) show a few scatted type 1 lobulated muscle fibers (black arrows) with coarse internal architecture staining with intensely dark staining wedge-shaped or triangular-shaped accumulations along the periphery of the muscle fiber. A few targetoid muscle fibers are also seen.  Ultrastructural examination confirms that these small accumulations are composed of mitochondria with one such aggregate demonstrated (black arrow).  Original magnifications: A. Frozen Section NADH-TR, 100x; B. Electron microscopy, 1500x.   Considering the clinical vignette from the prior week: An...
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4th of July Muscle Fibers

Article
4th of July Muscle Fibers
Neuro Notes is celebrating Old Glory this Independence Day with Red, White, and Blue Muscle Fibers!  Happy 4th of July. Patriotic Red, White, and Blue Muscle Fibers in Celebration of Independence Day, Happy 4th of July! Snap frozen skeletal muscle stained with routine hematoxylin and eosin (H&E), Periodic acid-Schiff with diastase digestion (PASD), and reduced nicotinamide adenine dinucleotide-tetrazolium reductase (NADH-TR), each at 200x original magnification.
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Lobulated Muscle Fibers

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Lobulated Muscle Fibers
Figure 1: Hereditary myopathy with lobulated muscle fibers in an elderly male presenting with myalgias. The photomicrograph shows snap frozen skeletal muscle stained with the NADH-TR preparation demonstrating variably sized variably well-developed muscle fibers with irregular basement membrane contours and myofibrillar disorganization due to small triangular or wedge-shaped subsarcoplasmic areas of intensely dark staining character, consistent with small accumulations of mitochondria (also known as so-called “lobulated muscle fibers”).  Some of the lobulated (trabeculated) muscle fibers are in small groups or scattered as single individual myofibers throughout the specimen.  Original magnification: A. NADH-TR, 100.   Considering the clinical vignette from last...
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Acquired Etiologies of Myopathy with Lobulated Muscle Fibers

Article
Myopathy with Lobulated Muscle Fibers
An elderly male patient presents with a chief complaint of “dull achy pain.” The patient relates that the pain is predominantly in his thighs and hip girdle region, most intense in his left lateral thigh. He says the pain has ongoing and progressive for several months but has significantly worsened over the last few days.  The patient had been recently admitted for “rhabdomyolysis” thought due to his statin medication, which was discontinued; however, no muscle biopsy was performed at that time and his muscle enzymes showed CPK 934.  Other past medical history includes diabetes mellitus, hyperlipidemia, hypertension, hypercalcemia, and vitamin...
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C9orf72 Gene

Article
C9orf72 gene, neuronotes, neropathology
The patient is a middle-aged Caucasian male who presents with chief complaint of progressive muscle weakness and muscle cramps of insidious onset. He also reported muscle mass loss and muscle twitching. No muscle pain, no skin rash, or myotoxic medications are reported.  Myositis panel is negative.  CPK levels over the last few months have trended slightly upward, and the most recent CPK is ~800.  EMG/NCS shows denervation-type changes.  No family history of  neuromuscular disorder is reported.  A muscle biopsy of the thigh was pursued to aid in diagnostic work-up, and confirms denervation-type changes that are active and chronic.  A clinical...
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U1-RNP-Related Myositis/Myopathy

Article
U1-RNP-Related Myositis/Myopathy
Hematoxylin and eosin (H&E)-stained section of frozen skeletal muscle demonstrates occasional slightly basophilic regenerating muscle fibers and occasional pale eosinophilic necrotic muscle fibers with a subset infiltrated by mononuclear inflammatory cells, consistent with macrophages (i.e. active myophagocytosis is observed).  In addition, there is sparse perivascular inflammation of perimysial vessels without evidence of vessel wall injury.    The patient is an elderly female who presents with chief complaint of progressive symmetric proximal muscle weakness over the past one to two months. She also complains of dysphagia, as well as neck and low back pain. The patient’s medication list includes a statin. ...
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Neuromuscular Junctions

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Neuromuscular Junctions
Neuromuscular junctions in normal skeletal muscle.  Esterase preparation (A) darkly highlights neuromuscular junctions (NMJs) along a small intramuscular nerve twig.  Original magnification:  A. Nonspecific Esterase Preparation, 100x.   A relatively young patient presented with hypotonia. Course features were noted on physical exam; however, multiple studies revealed no etiology for the patient’s clinical picture. A muscle biopsy was pursued to evaluate for myopathy.  Using Figure 1, what structures (black arrows) are highlighted by the esterase stain shown below?   Answer: Neuromuscular Junctions  Nonspecific esterase preparation is one of the principal enzymatic histochemical stains used to evaluate neurogenic pathology in skeletal muscle...
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Alkaline Phosphatase in Muscle Biopsies

Article
Alkaline Phosphatase in Muscle Biopsies
An elderly female in her mid-70’s presents with insidiously progressive severe proximal muscle weakness over the last two to three months to the point that her symptoms of weakness have interfered with her activities of daily living (ADLs) and are also causing her to have limited ambulation. The patient had been on a statin medication for a number of years without issue, and the dosage had recently been increased.  Hospital admission showed markedly elevated CPK levels that peaked at CPK ~ 7500 and had moderate downward trend with supportive care.  Steroid medication was held until after muscle biopsy of the...
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Posted June 28th 2021
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