X-linked Charcot Marie Tooth disease type 1 (CMTX1) is a clinically heterogenous X-linked hereditary neuropathy caused by mutation of the gene encoding gap junction beta 1 protein (GJB1). Typical clinical manifestations of CMTX1 are progressive weakness or sensory disturbance due to peripheral neuropathy. However, there have been some CMTX1 cases with accompanying central nervous system (CNS) manifestations. We report the case of a genetically confirmed CMTX1 patient who presented recurrent transient CNS symptoms without any symptom or sign of peripheral nervous system involvement.
Hemiplegia cruciata (HC) manifests as paralysis of the ipsilateral arm and contralateral leg. Herein, we report a 64-year-old man with weakness of the right leg and of the left arm after multiple sclerosis (MS). His brain and spine magnetic resonance imaging show a lower medulla lesion, which is extended to posterior part of C1 spine through cervicomedullary junction. HC usually results from stroke or trauma, but it is rare as presenting symptom of MS.
Stroke remains a leading cause of death and disability. New rehabilitation therapies and approaches hold the promise of reducing the disability caused by stroke. Following stroke, the pattern of deficits and recovery, associated medical problems, and psychosocial factors vary among individuals, and it becomes critical to individualize rehabilitation program. Awareness of the pathophysiology and recovery patterns following stroke and attention to detail in medical and rehabilitative management enhance current functional outcome. The issues of when rehabilitation should begin, and what role rehabilitation should play acutely after stroke are changing rapidly. Based on studies demonstrating superior outcomes in programs that combine acute and rehabilitative care beginning immediately after stroke, many hospitals are developing practice protocols that require rehabilitation consultation and screening within 24 hours after stroke onset.