ABSTRACT
We present a 36-year-old Dutch woman who suffered from a progressive form of cerebellar ataxia since school age. In her childhood she was diagnosed with Friedreich's ataxia. Genetic analysis of the frataxin gene at 34 years of age, however, had revealed no abnormal GAA triplet expansion. We identified two point mutations in the alpha-tocopherol transport protein (alpha-TTP) gene on chromosome 8q13, and the diagnosis ataxia with isolated vitamin E deficiency (AVED) was made. This report illustrates the diagnosis AVED and its relation to vitamin E metabolism. It is important to evaluate previously made diagnoses when newly developed tests can be performed for confirmation.
Subject(s)
Ataxia/complications , Vitamin E Deficiency/complications , Adult , Carrier Proteins/genetics , Chromosomes, Human, Pair 8 , Female , Humans , Netherlands , Point Mutation , Vitamin E Deficiency/geneticsABSTRACT
Carcinomatous meningitis is extremely rare in cervical cancer. The diagnosis of carcinomatous meningitis is a difficult one when clinical symptoms are limited and radiographic imaging is normal. Demonstration of malignant cells in the cerebrospinal fluid remains the gold standard to establish the diagnosis. For patients without bulky disease who can be treated with radiotherapy, standard treatment for carcinomatous meningitis is chemotherapy, which may be administered intrathecally. Despite the poor prognosis, treatment may result in effective palliation. We describe a 54-year-old patient who was diagnosed with carcinomatous meningitis in the course of metastatic cervical cancer and who responded to administration of intrathecal methotrexate.
Subject(s)
Meningeal Neoplasms/pathology , Uterine Neoplasms/pathology , Antimetabolites, Antineoplastic/therapeutic use , Female , Humans , Meningeal Neoplasms/drug therapy , Methotrexate/therapeutic use , Middle Aged , Uterine Neoplasms/complicationsABSTRACT
BACKGROUND: Although movement disorders that occur following a stroke have long been recognised in short series of patients, their frequency and clinical and imaging features have not been reported in large series of patients with stroke. METHODS: We reviewed consecutive patients with involuntary abnormal movements (IAMs) following a stroke who were included in the Eugenio Espejo Hospital Stroke Registry and they were followed up for at least one year after the onset of the IAM. We determined the clinical features, topographical correlations, and pathophysiological implications of the IAMs. RESULTS: Of 1500 patients with stroke 56 developed movement disorders up to one year after the stroke. Patients with chorea were older and the patients with dystonia were younger than the patients with other IAMs. In patients with isolated vascular lesions without IAMs, surface lesions prevailed but patients with deep vascular lesions showed a higher probability of developing abnormal movements. One year after onset of the IAMs, 12 patients (21.4%) completely improved their abnormal movements, 38 patients (67.8%) partially improved, four did not improve (7.1%), and two patients with chorea died. In the nested case-control analysis, the patients with IAMs displayed a higher frequency of deep lesions (63% v 33%; OR 3.38, 95% CI 1.64 to 6.99, p<0.001). Patients with deep haemorrhagic lesions showed a higher probability of developing IAMs (OR 4.8, 95% CI 0.8 to 36.6). CONCLUSIONS: Chorea is the commonest movement disorder following stroke and appears in older patients. Involuntary movements tend to persist despite the functional recovery of motor deficit. Deep vascular lesions are more frequent in patients with movement disorders.
Subject(s)
Cerebral Infarction/complications , Dyskinesias/etiology , Intracranial Hemorrhages/complications , Adolescent , Adult , Age Factors , Aged , Brain/diagnostic imaging , Brain/physiopathology , Case-Control Studies , Cerebral Infarction/diagnostic imaging , Cerebral Infarction/mortality , Cerebral Infarction/physiopathology , Chorea/diagnostic imaging , Chorea/etiology , Chorea/mortality , Chorea/physiopathology , Dominance, Cerebral/physiology , Dyskinesias/diagnostic imaging , Dyskinesias/mortality , Dyskinesias/physiopathology , Dystonia/diagnostic imaging , Dystonia/etiology , Dystonia/mortality , Dystonia/physiopathology , Female , Follow-Up Studies , Humans , Intracranial Hemorrhages/diagnostic imaging , Intracranial Hemorrhages/mortality , Intracranial Hemorrhages/physiopathology , Male , Middle Aged , Neurologic Examination , Parkinsonian Disorders/diagnostic imaging , Parkinsonian Disorders/etiology , Parkinsonian Disorders/mortality , Parkinsonian Disorders/physiopathology , Probability , Prognosis , Registries , Risk Factors , Subarachnoid Hemorrhage/complications , Subarachnoid Hemorrhage/diagnostic imaging , Subarachnoid Hemorrhage/mortality , Subarachnoid Hemorrhage/physiopathology , Survival Analysis , Tomography, X-Ray Computed , Tremor/diagnostic imaging , Tremor/etiology , Tremor/mortality , Tremor/physiopathologyABSTRACT
OBJECTIVE: To determine whether a positive L-dopa response in vascular parkinsonism (VP) is correlated with the presence of nigrostriatal pathology due to either vascular damage or neuronal cell loss. METHODS: Seventeen patients with pathologically confirmed VP were selected from the pathological collection of the Queen Square Brain Bank for Neurological Disorders, and their L-dopa response during life was compared with the presence of macroscopic vascular damage in the nigrostriatal pathway and microscopic substantia nigra cell loss. RESULTS: Ten of the twelve patients with a good or excellent response had macroscopic infarcts or lacunae caused by enlarged perivascular spaces in the basal ganglia or microscopic neuronal cell loss in the substantia nigra. In contrast, only one of the five patients with a moderate or no response had lacunae in the putamen, and none had lacunar infarcts or substantia nigra cell loss. CONCLUSION: These results suggest that a substantial number of patients with clinically suspected VP may respond with benefit to dopaminergic therapy, especially those with lesions in or close to the nigrostriatal pathway.
