| Popis: |
INTRODUCTION We report a case of mitochondrial encephalomyopathy with a complex clinical picture followed-up in the Neurology Department, and fully investigated using different techniques, in whom the definite diagnosis was essentially based on finding ragged red fibres on muscle biopsy. CLINICAL CASE The patient was 60 years old when the definite diagnosis was made. The illness had started in his youth and affected different systems and parts of the body. On laboratory investigation the serum lactic acid and lactic acid curve were normal, as were those of the cerebrospinal fluid. Further complementary tests were done, including imaging techniques (cerebral CAT, MR and SPECT). SPECT was done using 99Tc-HMPAO. Since it was a single case, we can affirm that the diagnosis of mitochondrial encephalomyopathy was made on muscle biopsy, supported by other complementary investigations, but without being able to classify the case among the various mitochondrial encephalopathies since the clinical features were common to several of them. CONCLUSION More sequential studies are needed with different imaging techniques, in the same patient, carefully taking into account any slight modification in his clinical state, during the time elapsed between two consecutive serial follow-up studies. |
