Chronic progressive external ophthalmoplegia (CPEO) is a rare clinical syndrome characterized by slowly progressive paralysis of extraocular muscles. We report a male patient who had a 20 year history of CPEO. Histological examination of left deltoid muscle showed characteristic ragged red fibers. Electron microscopy revealed a number of abnormal mitochondria which contain paracrystalline inclusion bodies.
Biopsy ; Chronic Disease ; Humans ; Male ; Middle Aged ; Mitochondria/ultrastructure ; Muscles/ultrastructure ; Ophthalmoplegia/*diagnosis/pathology

The cavernous sinus of skull base is a extremely rare metastastatic site for hepatocellular carcinoma (HCC). A 51-year-old man was diagnosed with HCC by liver biopsy and palliative radiotherapy on HCC including main portal vein was performed. One month later, he was admitted due to sudden onset ptosis. Neurologic findings were normal except for abnormal movement of right eye, and it raised the possibility of abnormality in the right occulomotor, trochlear and the abducens nerves. Contrast-enhanced CT scan of brain showed a mass with homogeneous enhancement involving the right cavernous sinus. T2-weighted axial MR images demonstrated a homogeneous mass with intermediate signal intensity, and contrast-enhanced axial T1-weighted MR images demonstrated a mass with homogeneous enhancement in the right cavernous sinus. We describe a case of HCC metastasis to the cavernous sinus with symptoms of ptosis and disturbance of right eyeball movement.
Blepharoptosis/*etiology/pathology ; Carcinoma, Hepatocellular/complications/*diagnosis/*secondary ; Cavernous Sinus/*pathology ; Humans ; Liver Neoplasms/complications/*pathology ; Male ; Middle Aged ; Ophthalmoplegia/pathology ; Skull Base Neoplasms/diagnosis/*secondary ; Tomography, X-Ray Computed

PURPOSE: To evaluate the spectrum of mitochondrial DNA (mtDNA) aberrations in patients with suspected chronic progressive external ophthalmoplegia (CPEO) and to establish the molecular diagnostic method for CPEO in Koreans. METHODS: We performed mtDNA analyses for single deletions with long-range PCR and direct sequencing, and for the nine important point mutations including 3243A>G and 8344A>G with PCR/RFLP in muscles, bloods and paraffin-embedded muscle sections of 16 Korean patients with suspected CPEO. RESULTS: Three novel single mtDNA deletions were identified in three patients' muscles: 3159bp deletion from np 6657 to np 9815, 7591bp from np 8429 to np 16019, and 6191bp from np 7799 to np 13989. In addition, multiple mtDNA deletions were found in one patient. None of the blood specimen had mtDNA deletions even in the patients with mtDNA deletion in muscle. All single deletion junctions were flanked by direct repeats of 6-8 bp. None of the nine mtDNA point mutations were found in muscles, bloods or paraffin-embedded muscle sections. CONCLUSIONS: We identified three novel single deletions by mtDNA analyses in the muscles of 3 patients with CPEO. However, point mutations were not found. Furthermore, we established a molecular diagnostic method for CPEO in Korea. Long-range PCR and direct sequencing of the muscles were appropriate as a molecular diagnostic method for CPEO in Koreans.
Diagnosis* ; DNA, Mitochondrial* ; Humans ; Korea ; Muscles ; Ophthalmoplegia, Chronic Progressive External* ; Pathology, Molecular ; Point Mutation ; Polymerase Chain Reaction ; Repetitive Sequences, Nucleic Acid