DRUG RESISTANT FOCAL EPILEPSY IN A PATIENT WITH MYOTONIC DYSTROPHY TYPE 2 L. GIULIANO¹, C. SUERI¹, C. GILIBERTO, E. COSTA², R. CARDANI², R. VALAPERTA², V.SOFIA¹, G. MEOLA², M. ZAPPIA¹ ¹DIPARTIMENTO “G. F. INGRASSIA” SEZIONE NEUROSCIENZE- UNIVERSITÀ DI CATANIA ²IRCCS POLICLINICO SAN DONATO, MILANO BACKGROUND MYOTONIC DYSTROPHY TYPE 2 (DM2) IS AN ADULT ONSET MUSCULAR DYSTROPHY WITH MULTI-SYSTEMIC INVOLVEMENT. IT IS CAUSED BY AN UNSTABLE TETRANUCLEOTIDE CCTG REPEAT EXPANSION LOCATED IN 1 OF THE ZINC FINGER PROTEIN 9 GENE (ZNF9 GENE) ON CHROMOSOME 3Q 21.3. THE ASSOCIATION BETWEEN DM2 AND FOCAL EPILEPSY HAS NEVER BEEN DESCRIBED. INTRON CASE REPORT A 57-YEARS-OLD WITH A DRUG RESISTANT TEMPORAL LOBE EPILEPSY, AT THE AGE OF 49 YEARS PRESENTED SLOWLY PROGRESSIVE PROXIMAL MUSCLES WEAKNESS. PHYSICAL EXAMINATION SHOWED DIFFUSE MUSCLE HYPOTROPHY, WEAKNESS OF THE NECK AND PROXIMAL LIMB MUSCLES, MYOTONIA IN THE DISTAL EXTREMITIES OF THE LIMBS AFTER MILD EXERCISE AND GOWERS SIGN. AMBULATORY PSG: AHI: 14.8. (LF: 1,6 HZ; HF: 30 HZ; SWEEP 30’’; SENS: 100 µV/CM) EEG IN SLEEP : SHARP WAVES AND SPIKES OVER THE FRONTAL REGIONS. MINOR MOTOR EVENTS IN SLEEP MUSCLE BIOPSY: SEVERE TYPE II FIBER ATROPHY, FREQUENT NUCLEAR CLUMPS AND CENTRAL NUCLEATED FIBERS. 60 SEC EMG : SPONTANEOUS INSERTIONAL BRAIN MRI T2: ACTIVITY IN THE BICEPS BRACHII A MUSCLE VARIABLE IN AMPLITUDE AND FREQUENCY. MEAN DURATION OF A SINGLE DISCHARGE :1.2 SEC. WHITE MATTER LESIONS CORTICAL ATROPHY. MOLECULAR BIOLOGY (FISH WITH MBNL1-IMMUNOFLUORESCENCE): GENETIC FINDINGS: RIBONUCLEAR INCLUSIONS COLOCALIZING IN NUCLEI WITH MBNL1 FOCI. HETEROZYGOUS SAMPLE WITH AN EXPANDED ALLELE IN THE PATHOLOGIC RANGE (250-500 CCTG REPEATS). CONCLUSIONS OUR CLINICAL CASE PROVIDES EVIDENCE OF THE POSSIBLE PRESENCE OF EPILEPSY IN THE SYMPTOMATOLOGICAL CORTEO OF DMD2, SUGGESTING A SIMILAR ETIOLOGY. REFERENCES • • • Meola G. Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Acta Myologica 2013; XXXII:p.154-165. Cardani R, Mancinelli E, Sansone V, Rotondo G, Meola G. Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy. Eur J Histochem 2004; 48:437-442. Cagnetti C., Buratti L., Foschi N., Balestrini S., Provinciali L. Generalized epilepsy in a patient with myotonic dystrophy type 2. Neurol. Sci. 2014; 35:489-490. 326
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