ABSTRACT
We report a 26-year-old woman admitted to our hospital for generalized tonic seizure. Laboratory investigations revealed severe hyponatremia possibly triggered by vomiting and diarrhea. 24 hours after correction of hyponatremia she developed diffuse myalgias and marked hyperCKemia. Syndrome of inappropriate antidiuresis (SIAD) was suspected as cause of hyponatremia. Abnormal vaginal bleeding prompts gynecological evaluation and a small-cell carcinoma of uterine cervix was detected.
Subject(s)
Hyponatremia/diagnosis , Inappropriate ADH Syndrome/diagnosis , Paraneoplastic Syndromes/diagnosis , Rhabdomyolysis/diagnosis , Uterine Cervical Neoplasms/diagnosis , Adult , Diagnosis, Differential , Female , Humans , Hyponatremia/therapy , Inappropriate ADH Syndrome/therapy , Rhabdomyolysis/therapy , Uterine Cervical Neoplasms/therapyABSTRACT
Fragile X-associated tremor/ataxia syndrome is a recently discovered disorder affecting more of one third of older adult male carriers of premutation alleles of fragile X mental retardation 1 (FMR1 gene). There is no established treatment.The 66-year-old right-handed grandfather of a boy with fragile X syndrome, a carrier of premutation alleles of FMR1 gene, developed an action tremor in his right hand when writing. His writing became large and completely illegible. Administration of levetiracetam was associated with subjective and objective improvement, and handwriting became possible again. Levetiracetam was well tolerated, and no adverse effects were reported.
Subject(s)
Anticonvulsants/therapeutic use , Ataxia/etiology , Fragile X Syndrome/complications , Piracetam/analogs & derivatives , Tremor/drug therapy , Tremor/etiology , Aged , Family Health , Humans , Levetiracetam , Male , Piracetam/therapeutic useABSTRACT
Several authors have recently reported a broad cognitive impairment in autosomal dominant cerebellar ataxias (ADCAs) patients. However, only a few studies on neuropsychological features in spinocerebellar ataxia type 2 (SCA2) patients are present in the current literature. The aim of this study is to evaluate the cognitive impairment in a wide sample of SCA2 patients and to verify the role of different disease-related factors (age of onset, disease duration, and clinical severity) on intellectual abilities. We administered a battery of neuropsychological tests assessing handedness, attention, short- and long-term verbal and visuo-spatial memory, executive functions, constructive abilities, general intellectual abilities and depression to 18 SCA2 patients belonging to eight families who came to our observation. Evidence of impaired verbal memory, executive functions and attention was found. The cognitive status was partially related to clinical severity rather than to disease duration or age at onset of symptoms. We partially confirmed data on cognitive defects already reported by others but we also found defective attention skills as well as significant lower performances in a nonverbal intelligence task.
Subject(s)
Cognition Disorders/etiology , Cognition Disorders/genetics , Spinocerebellar Ataxias/complications , Spinocerebellar Ataxias/genetics , Adult , Aged , Cognition Disorders/diagnosis , Educational Status , Family Health , Female , Humans , Intelligence Tests , Male , Memory , Middle Aged , Neuropsychological Tests , Spinocerebellar Ataxias/diagnosisABSTRACT
The aim of this study was to evaluate motor cortex excitability in spinocerebellar ataxia type 2 (SCA2). Cortical silent period (CSP), motor thresholds, and intracortical inhibition and facilitation by paired transcranial magnetic stimulation (TMS) were investigated in 18 SCA2 patients and in 20 controls. The mean CSP duration and motor threshold after TMS were significantly increased in the patient group. Intracortical inhibition by paired TMS at short interstimulus intervals (ISIs) showed no significant differences between patients and controls; at longer ISIs, the expected facilitation of test responses, observed in control subjects, resulted significantly less marked in SCA2 patients at all the tested intervals. Our findings extend previous findings on cerebellar dysfunctions of varying aetiologies by investigating intracortical excitability in SCA2. In addition, this study demonstrates that the cortical excitability involvement found in SCA2 is independent on the cytosine-adenine-guanine repeat expansion. The neurophysiological alterations seen in our patients relate to the worsening of general clinical condition. Thus, we might speculate that changes of motor cortex excitability in SCA2 represent a slow neurodegenerative process characterized by gradual loss of cerebellar neurons leading to an increasing disturbance of the balance between inhibitory and excitatory circuits in the motor system.
Subject(s)
Motor Cortex/physiopathology , Spinocerebellar Ataxias/physiopathology , Adult , Conditioning, Psychological , Differential Threshold , Electric Stimulation/methods , Electrophysiology , Extremities/physiopathology , Female , Humans , Male , Middle Aged , Muscle, Skeletal/physiopathology , Neural Conduction , Neural Inhibition , Reference ValuesABSTRACT
Describimos dos pacientes que presentaron síntomas de isquemia vértebro - basilar después de manipular el cuello. La causa más probable fue debido a trauma mecánico del hueso, músculo o ligamento cerca de la porción extracraneana de la arteria vertebral. Este trauma puede determinar una lesión de la túnica íntima con consecuente embolismo o una oclusión basal. Teniendo presente esta posibilidad de isquemia ,creemos indispensable que estas maniobras quiroprácticas sean realizadas por personas expertas y con la debida prudencia