close

Enter

Log in using OpenID

(PROMM) F. Giardina, L. Giuliano, C. Sueri, V. Lingenti, G. Miano

embedDownload
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
Author
Document
Category
Uncategorized
Views
0
File Size
1 060 KB
Tags
1/--pages
Report inappropriate content