An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement

An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65. Dysphagia and dysarthria occurred soon thereafter. At age 78, impairment of gait developed and progressive wasting occurred in the limbs with an initial distal distribution. Electromyography of several limb muscles displayed a mixed myopathic and neurogenic pattern with giant potentials. Examination at autopsy revealed slight loss of neurons in the anterior horns of the spinal cord, with scanty ghost cells, neuronophagia, and central chromatolysis. By light microscopy the limb muscles showed moderate small-group atrophy with severe myopathy and target fibers. The viscerocranial muscles, including the ocular, vocal, and tongue muscles, demonstrated only myopathic change with the typical features of progressive muscular dystrophy. Advanced replacement by fibrous connective tissue and fat had occurred in both the viscerocranial and the lower limb muscles. The significance of neurogenic involvement in OPMD is discussed

Cluster headache: a quasi-rare disorder needing a reappraisal

Editoria

Pseudotumor cerebri and pregnancy.

Journal ArticlePseudotumor cerebri (PTC) is most commonly seen in obese women of reproductive age. We studied 109 women with PTC between ages 16 and 44 years. In 11, PTC started during pregnancy. Thirteen women with previous diagnosis of PTC, including two of the aforementioned 11, had an additional 17 documented pregnancies. Patients were matched by age and parity with controls. Obstetric complications occurred more frequently in the controls. Visual loss occurred with the same frequency in pregnant and nonpregnant patients. Treatment of PTC patients in pregnancy should be the same as for nonpregnant PTC patients, except that calorie restriction and diuretic use are contraindicated. Obstetric management is no different from that of normal pregnancy

Racial Differences in the Distribution of Posterior Circulation Occlusive Disease

We Compared Clinical and Arteriographic Features in 27 White and 24 Black Patients with Symptomatic Posterior Circulation Occlusive Disease. the Degree of Arterial Stenosis Was Measured Independently by Two Examiners at 12 Sites within the Vertebrobasilar Territory. Racial Comparisons Were Made based Upon the Distribution of Extra- and Intracranial Occlusive Lesions and Symptomatic Sites of the Lesions. White Patients Had Significantly More Angina Pectoris, More Lesions of the Origin of the Left Vertebral Artery and More High-Grade Lesions of the Extracranial Vertebral Arteries. Black Patients Had Significantly Higher Mean Diastolic Blood Pressure, More Diabetes Mellitus, More Lesions of the Distal Basilar Artery, More High-Grade Lesions of Intracranial Branch Vessels and More Symptomatic Intracranial Branch Disease. Race Was Found to Be the Only Factor Increasing the Risk of Intracranial Posterior Circulation Occlusive Disease. Knowledge of the Contribution of Race to the Distribution of Posterior Circulation Lesions Will Help Guide Evaluation and Treatment Strategies for Patients with Vertebrobasilar Occlusive Disease. © 1985 American Heart Association, Inc

Managment of Transient Brain Ischemia

Cerebrovascular disease is an exciting subject, so complex that we could devote 30 minutes to a discussion of aspirin, dipyridamole, and sulfinpyrazone and their potential actions in the prevention of thromboembolic events. A Classification and Outline of Cerebrovascular Disease II, published in the September-October 1975 issue of Stroke, depicts this complexity. The portion labeled “outline” describes some of the things summarized in this paper

Late onset of Huntington's disease

Twenty-five patients with late-onset Huntington's disease were studied; motor impairment appeared at age 50 years or later. The average age at onset of chorea was 57.5 years, with an average age at diagnosis of 63.1 years. Approximately 25% of persons affected by Huntington's disease exhibit late onset. A preponderance of maternal transmission was noted in late-onset Huntington's disease. The clinical features resembled those of mid-life onset Huntington's disease but progressed more slowly. Neuropathological evaluation of two cases reveal less severe neuronal atrophy than for mid-life onset disease

Current Concepts of Cerebrovascular Disease - Stroke: Stroke and Drug Abuse

This Review Summarizes Available Information Concerning Cerebral Vascular Complications of the Most Commonly Abused Substances and Discusses Possible Mechanisms of Vascular Injury and Cerebral Damage. Although Alcohol is Frequently Abused and May Have Important Cerebrovascular Effects, its Consideration is Beyond the Scope of This Review

Cluster headache management and beyond

The therapeutic management of cluster headache is based on a very stable triad of drugs. Acute treatment has, in subcutaneous sumatriptan, its gold standard if compared to pure oxygen or indomethacin. Preventative treatment is based on verapamil at high doses (≥ 360 mg) and is a gold standard if compared to lithium carbonate or topiramate. Transitional treatments, based on the short-term use of corticosteroids with either systemic or local administration (GON), can be useful for the suppression of most resistant cluster periods, but with a well-known carry-over phenomenon related to the length of the cluster period itself. The role of invasive or noninvasive neuromodulation approaches must still be determined on a large scale; therefore, its use is not recommended as of yet. Lifestyle changes, including alcohol avoidance during the active phase of the disease, sleep hygiene and use of vasodilation drugs, should be carefully considered and the patients should be fully informed

Lambert-Eaton myasthenic syndrome – a misdiagnosed condition

Department of Neurology No 1, Nicolae Testemitsanu State University of Medicine and Pharmacy, Department of Neuromuscular Disorders and Polyneuropathies, Institute of Neurology and Neurosurgery, Chisinau, the Republic of MoldovaBackground: Lambert-Eaton myasthenic syndrome (LEMS) is a rare disorder of the neuromuscular junction. Clinical features include proximal muscle weakness, markedly in the lower limbs, reduced deep tendon reflexes that can increase after exercise, and autonomic disturbances. The clinical picture as well as knowledge of the laboratory test that accompany LEMS will permit early recognition of the disease, that is crucial because it is often associated with malignancy, especially small cell lung cancer (SCLC). In this article we present a patient with proximal muscle weakness and typical changes on repetitive nerve stimulation, as well as a short literature review on the topic. Conclusions: The diagnosis of LEMS is usually made on clinical grounds. The diagnosis is confirmed by electrophysiological testing, main features including decrement response on slow repetitive nerves stimulation (3Hz), and an increment of more than 100% in CMAP amplitude after brief exercise, or high frequency repetitive stimulation (30-50 Hz). Immunological panel assay with positive P/Q-type VGCC antibody is strongly suggestive of LEMS. While symptomatic treatment with 3,4 – diaminopyridine is available, one of the main priorities is evaluation for underlying malignancies in these patients, the most common being SCLC. Evaluation of patients with LEMS and no known cancer should start with CT of the chest, abdomen and pelvis. Brain imaging is recommended if focal neurological signs are present. If the initial evaluation of the patient is negative, repeated screening for malignancy after 6 months and up to two years is recommended