Intracranial occurrence of a chloroma (myeloid sarcoma, MS) in the absence of a preceding hematological malignancy is unusual. We report the case of a 20-year-old man who presented with Garcin's syndrome of short duration. MRI revealed multiple extra-axial contrast enhancing lesions: two mirror lesions on the skull base, and one in the right parietal convexity. The parietal lesion was excised and histologically and immunohistochemically proved to be a differentiated variant of MS. Peripheral blood smear and bone marrow biopsy ruled out an underlying leukemia or myeloproliferative disorder. With a diagnosis of intracranial de-novo MS, he was referred for chemotherapy and radiation therapy. 15 months later, his clinical status remained the same while his imaging showed marginal decrease in size of the lesions. A repeat bone marrow biopsy remained normal. This is a first-of-its- kind report of multiple intracranial lesions of a de-novo MS presenting as Garcin's syndrome. Radiological differentials, immunohistochemical variants and management options related to MS are discussed in the light of the reported case.
Intracranial occurrence of Ewing sarcoma (ES) is unusual, with a skull-base location being anecdotal. We report a 29-year-old man who presented with rapidly progressive ophthalmoplegia, and was found to be harboring an infiltrative lesion involving the sphenoid sinus, sella, and clivus. He underwent trans-sphenoidal decompression of the lesion which was histologically suggestive of ES. He developed paraparesis 2 weeks after commencing adjuvant therapy. Imaging revealed two thoracic extradural lesions and florid vertebral and pulmonary metastases. This is the first report in indexed literature of a primary intracranial ES on the skull-base with disseminated extracranial disease.
McArdle's disease (myophosphorylase deficiency), an uncommon autosomal recessive metabolic disorder, is characterized clinically by exercise intolerance beginning in childhood, myalgia, cramps, exercise-induced rhabdomyolysis, "second wind" phenomenon, elevated Creatine Kinase (CK) levels at rest, and previous episodes of raised CK levels following exercise. Several mutations in the PYGM gene and geographic variations have been described. We report three biopsy confirmed cases of McArdle's disease.
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