1/8. Isolated cerebellar involvement in Rosai-Dorfman disease: case report.OBJECTIVE AND IMPORTANCE: Sinus histiocytosis or Rosai-Dorfman disease (RDD) is a rare but well-recognized disorder characterized by an unusual proliferation of histiocytic cells. Intracranial localization is a rare manifestation of RDD. Only three cases of localization in the posterior fossa have been reported in the literature. The present report describes the first case, to our knowledge, of cerebellar localization of RDD. CLINICAL PRESENTATION: A 67-year-old woman was admitted to our institution with a 5-month history of cerebellar ataxia. Her medical history was unremarkable. The patient was alert and cooperative. No cranial nerve deficits were evident; Romberg positivity to the left side was recorded. No cutaneous abnormalities, lymphadenopathy, or hepatosplenomegaly were revealed by physical examination. Routine hematological and biochemical studies were normal except for the erythrocyte sedimentation rate, which was elevated. Radiologically, the lesion appeared as a well-defined and avascular mass in the right cerebellar lobe. meningioma was considered the most likely diagnosis. TECHNIQUE: The patient underwent a suboccipital craniotomy with complete excision of the lesion. Microscopic examination of the operative specimen revealed the presence of a mixed cellular population with predominant mature histiocytes. A peculiar feature was the presence of lymphocytes and monocytes within the cytoplasm of histiocytes (emperipolesis). Immunohistochemical study of the histiocytes revealed strong positivity for S-100, CD-68 antigen, and vimentin. CONCLUSION: Involvement of the central nervous system in RDD appears to have a benign prognosis, especially in the absence of nodal diseases. Surgery is essential for diagnosis, and, when total removal is achieved, the outcome is generally good without risk of recurrence.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/8. Cerebellar infarction in the young.BACKGROUND AND PURPOSE: Ischemic cerebrovascular disease in children and young adults usually affects the anterior circulation. SUMMARY OF REPORT: We describe two cases of cerebellar infarction in the territory of vertebral artery supply, associated with physical exertion, in a young adult and in a child. review of 31 previous cases of cerebellar infarction occurring in the first 2 decades of life demonstrated a mostly obscure causation; where a likely cause was found, trauma was most frequent. In 12 of the 31 patients, a vertebral artery (usually the left) was occluded. patients were sometimes predisposed to such occlusions by subluxation between the first and second cervical vertebrae, allowing abnormal neck movements that can cause arterial injury and thromboembolism. Some of these cerebellar infarcts, like those of our patients, have followed physical exertion. CONCLUSIONS: Cerebellar infarction can be life-threatening, but half of the patients, including ours, have had complete or near-complete recovery.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
3/8. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics.BACKGROUND: CACNA1A encodes CaV2.1, the pore-forming subunit of P/Q-type voltage-gated calcium channel complexes. Mutations in CACNA1A cause a wide range of neurologic disturbances variably associated with cerebellar degeneration. Functional studies to date focus on electrophysiologic defects that do not adequately explain the phenotypic findings. OBJECTIVE: To investigate whether some missense mutations might interfere with protein folding and trafficking, eventually leading to protein aggregation and neuronal injury. methods: The authors studied the functional consequences of two pore missense mutations, C287Y and G293R, in two families with EA2, one newly discovered and the other previously reported. Both mutations caused episodic and interictal ataxia. The biophysical properties of mutant and wild type calcium channels were examined by whole-cell patch-clamp recordings in transfected COS-7 cells. The plasma membrane targeting was visualized by confocal fluorescence imaging on CaV2.1 tagged with green fluorescent protein. RESULTS: The mutant channels exhibited a marked reduction in current expression and deficiencies in plasma membrane targeting. CONCLUSIONS: In addition to altered channel function, the deficiency in protein misfolding and trafficking associated with the C287Y and G293R mutants may contribute to the slowly progressive cerebellar ataxia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/8. brain injury following neuroleptic malignant syndrome: case report and review of the literature.OBJECTIVE: To report a case of brain injury following neuroleptic malignant syndrome (NMS) and review the literature for similar documented cases. CASE REPORT: A 30-year old woman presented to the ER with psychotic features and was treated with several anti-psychotics. Subsequently, she developed neurological symptoms and was diagnosed with neuroleptic malignant syndrome. Following a prolonged course in an acute care facility, she was admitted to a rehabilitation ward, where cognitive and physical examinations revealed significant findings. These included marked dysarthria, difficulties comprehending commands, attention problems, as well as abnormalities in her muscle tone, power, reflexes, gait, co-ordination and sensory function. CONCLUSION: literature reviews reveal few documented cases of brain injury following neuroleptic malignant syndrome. A further exploration of the effects of NMS on the brain is warranted to elicit whether cerebellar damage is indeed common following neuroleptic malignant syndrome. Such research could eventually lead to therapeutic interventions aimed at preventing permanent brain injury in persons with NMS.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/8. Acute cerebellar syndrome, conjunctivitis, and hearing loss associated with low-dose cytarabine administration.An unusual reaction associated with chronic low-dose cytarabine is described. A 77-year-old man complained of three to four weeks of hearing loss and progressive inability to walk without assistance. He had received two courses of cytarabine 100 mg sc/wk for the management of myelofibrosis myeloid metaplasia over 21 months. He received a total of 3 g over seven months during his first course followed ten months later with a 1.2 g over four months. conjunctivitis was also identified on physical examination at the time of his admission. He was admitted to the neurology service where a complete neurological work-up with consultations from the ophthalmology, audiology, hematology, and ear, nose, and throat services failed to identify a cause of his symptoms. cytarabine was discontinued on the suspicion that his symptoms were drug induced. The conjunctivitis resolved completely with ophthalmic antibiotics and corticosteroids. His hearing slowly improved over three to four weeks, and he was able to ambulate with a walker. He continued to improve at home although some hearing loss remained three months after his initial presentation. Although conjunctivitis and neurotoxicity are well-known complications of high-dose cytarabine, there are no prior reports of these reactions after low-dose therapy. hearing loss, which has not been previously reported with cytarabine alone, appears to be a new complication of cytarabine administration.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/8. Complications of posterior fossa craniotomy.The nurse, as primary and continuous accessor of the patient, must have a thorough knowledge of complications related to posterior fossa surgery. Continuous evaluation of neuro status will alert her to any changes. These changes can occur quickly and require immediate intervention to prevent life-threatening situations. Attentive nursing care, both physiological and psychological, with utilization of other health care team members (social service, mental health counselors, physical and occupational therapy) can ensure a more secure recuperative period.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/8. rehabilitation of balance in two patients with cerebellar dysfunction.The treatment of two patients with cerebellar dysfunction is described. One patient was a 36-year-old woman with a 7-month history of dizziness and unsteadiness following surgical resection of a recurrent pilocystic astrocytoma located in the cerebellar vermis. The other patient was a 48-year-old man with cerebrotendinous xanthomatosis (CTX) and diffuse cerebellar atrophy, and a 10-year history of progressive gait and balance difficulties. Each patient was treated with a 6-week course of physical therapy that emphasized the practice of activities that challenged stability. The patient with the cerebellar tumor resection also performed eye-head coordination exercises. Each patient had weekly therapy and performed selected balance retraining exercises on a daily basis at home. Measurements taken before and after treatment for each patient included self-perception of symptoms, clinical balance tests, and stability during selected standing and gait activities; for the patient with the cerebellar tumor resection, vestibular function tests and posturography were also performed. Both patients reported improvements in symptoms and demonstrated similar improvements on several kinematic indicators of stability during gait. The patient with the cerebellar tumor resection improved on posturography following treatment, whereas the patient with CTX improved on clinical balance tests. This case report describes two individualized treatment programs and documents functional improvements in two patients with different etiologies, durations, and clinical presentations of cerebellar dysfunction. The outcomes suggest that patients with cerebellar lesions, acute or chronic, may be able to learn to improve their postural stability.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/8. Clinical and stabilometric monitoring in a case of cerebellar atrophy with vitamin e deficiency.The authors describe a case of early onset ataxia with cerebellar atrophy and vitamin e deficiency, treated with alpha-tocopherol supplementation and physically rehabilitated by postural biofeedback. Clinical assessments, serum vitamin E levels and postural evaluation by means of a stabilometric platform continued for about 2 years and significant clinical improvement was recorded. Our study confirms that combined physical therapy and vitamin E supplementation may result in improvement of cerebellar function. Motor improvement is directly related to vitamin E serum levels, providing further confirmation that normal vitamin E levels are crucial for proper brain functions.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |