摘要:

Spinal and bulbar muscular atrophy (SBMA, or Kennedy's disease) is an X-linked, late-onset neuro-endocrine disorder characterized by degeneration of motor neurons in the spinal cord and brainstem and partial androgen insensitivity. We describe the case of a 59-year-old man who presented with diabetes mellitus, hypercholesterolemia, testicular atrophy, gynecomastia, and elevated serum creatine kinase (CK) levels. He did not have a familial history of motor neuron disease or neuromuscular symptoms or physical signs. Electromyographic (EMG) examination showed evidence of widespread denervation in muscles of different segmental innervation. Genetic studies found an abnormal 43 CAG repeat in the androgen receptor gene, leading to the diagnosis of SBMA. This report highlights the fact that SBMA can present with a pure endocrine phenotype and an absence of neuromuscular complaints or physical signs.

ISSN:1522-0443    

出版商:OVID    

年代:2003

数据来源: OVID

摘要:

There is evidence that diabetic amyotrophy is caused by a microvasculitis of the vasa nervorum. We compared the outcome of patients treated with pulsed methylprednisolone to the published natural history of diabetic amyotrophy and assessed the safety of this treatment in patients with diabetes. We retrospectively reviewed the case records of 10 episodes of diabetic amyotrophy in 9 patients treated with pulsed oral or intravenous methylprednisolone. In 6 episodes there was marked improvement in pain within days of starting treatment. Strength improved more slowly but faster than the natural history of the disease. Treatment started within 2 months of symptom onset was associated with rapid improvement in pain; and very early treatment, started within 4 weeks of symptom onset, resulted in rapid improvement of both strength and pain. Blood glucose increased on treatment days but no patient required lasting changes in diabetic treatment as the result of this therapy and no other serious adverse effects were seen. We conclude that pulsed methylprednisolone appears to be a safe and effective treatment for diabetic amyotrophy.

ISSN:1522-0443    

出版商:OVID    

年代:2003

数据来源: OVID

摘要:

Myasthenia gravis (MG) is an autoimmune disease. Approximately 15% of patients with MG have thymoma. Approximately 30% to 40% of them are invasive. A 26-year-old man was admitted with cough and difficulty breathing. He had transsternal thymectomy resulting from MG accompanied by thymoma 6 years previously. Thorax computerized tomography (CT) scans showed metastases to the extra-mediastinum. Diagnosis of invasive thymoma was made by CT-guided biopsy. A PAC regimen (cisplatin, doxorubicin, cyclophosphamide) and radiotherapy were added to MG treatment. Ten months later, he presented again with headache, weakness, and difficulty swallowing. We determined that he had intracranial multiple metastases. He was hospitalized. Cerebral multiple metastases were evaluated as inoperable. However, he died of transtentorial herniation after 1 month. This MG case accompanied by invasive thymoma with multiple intracranial metastases is discussed.

ISSN:1522-0443    

出版商:OVID    

年代:2003

数据来源: OVID

摘要:

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic, acquired immune and inflammatory disorder of the peripheral nervous system. The classic form of the disorder is manifested by progressive or relapsing proximal or generalized limb weakness and areflexia, and usually easily recognized; it is the large number of regional and functional variants and variety of associated illnesses that pose a challenge to the clinician in practice. Similarly, laboratory and electromyography criteria have been developed to confirm the diagnosis; however, these various schemes are contrived because only 50% to 60% of patients with typical clinical features of CIDP fulfill these strict electrodiagnostic research criteria. Several studies have established the efficacy of immune therapies such as corticosteroids, plasma exchange, and intravenous immune globulin as the mainstay of treatment of CIDP, but these treatments might provide only short-term benefit. This review offers an approach to the evaluation and management of patients with CIDP and highlights the difficult clinical problems in those who do not respond or frequently relapse after treatment with standard therapies such as patients with CIDP and concomitant axonal loss, and the assessment of those with CIDP and concurrent diseases such as diabetes mellitus.

ISSN:1522-0443    

出版商:OVID    

年代:2003

数据来源: OVID

摘要:

Peripheral neuropathies are among the most common disorders encountered by neuromuscular specialists and their evaluation can be challenging. The first part of this review outlined an algorithm based on anatomy, pathology, electrodiagnosis, and clinical localization that leads to a full characterization of the peripheral neuropathy. In the second part, we apply this approach, emphasizing recognition of atypical features and formulation of a focused differential diagnosis, thus reducing the number of uninformative tests. We review evidence supporting the routine use of commonly ordered laboratory tests and recommend a panel of tests that should be performed in patients with symmetric, distal, sensory-predominant peripheral neuropathy. Using this diagnostic approach, a diagnosis could be made in two thirds of patients.

ISSN:1522-0443    

出版商:OVID    

年代:2003

数据来源: OVID

摘要:

Patients with myasthenia gravis might develop various cardiac disorders, yet a causal relationship remains unestablished. Because causes of sudden death in this population have not been ascertained, further attention to possible cardiac disease in this population is warranted. We summarize the current literature and describe the possible etiologies and implications of cardiac disease in myasthenics.

ISSN:1522-0443    

出版商:OVID    

年代:2003

数据来源: OVID

ISSN:1522-0443    

出版商:OVID    

年代:2003

数据来源: OVID

ISSN:1522-0443    

出版商:OVID    

年代:2003

数据来源: OVID