Laie onset epilepsy am congenital ml'scdiar dystrophy niii! pariialimkrosindeficiency

Laminai u-2 diaii (nocsii) lias bam slicwi absent n mviscfc of a subset of Western ess with Classical Caiyenlal Musaihr Dystrophy (CMD). CMD ih naosii ctficxixr>' lias a clinical ptaiotype dviractcrizcd by ae scikicss fran biitli and taacaxxpfialoprithy devoid of dinical syiifcsice B>'niiixn) obscfunidniixiigaircnaswifli CMD 3 patients th partial merosm cleficiaic>' and bte aiset epilepsy. We describe aie of diese cases, a 32->ear-old fbiiale, of was niikily hypctaiic al birth and presated detrscd nrtor devclqjiiiat. Aside fran mild rakness at fair limbs, was synptan free uitil tiïc aye of 27, on site suffered fian a graxknal attack and, in die fbHcMiig naSli, fian caiplcx partial seizures. On admission lier nairotoyjcal examination sliovvcd mild Irypotaiia, Inpctrcphy and rakixss of pioximal muscles and abseit deep taxtai reflexes Saum CK Nas ixrmal, EMG sfiovved m>cpaduc daigcs; muscle biopsy detected mild cKstrophe altcraoais and, by niuiuniccytodieniistjy aid bininobkt, paital merosii defkwicy. litoictal EEC slx>ved spikes 11 rj nyjit tmporal iqpais. Brail MRI gne evidence of iite matter dinnyas ni pcmatriaihr arens widiait gsral abnormalities. Naiicps>d>ological ahtatxn w ixniial. Scizures caiplctehy' lemitted adcr tieatmait will cnrbantizcpine. Qi die liole, late axt baiiyi epilepsy caikl be a dviractensbc fintiuc of CMD ami [Xiiual inacsin cLfiaaicy.