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Biomedical subjects

T E Bertorini

Publications and source records attributed to T E Bertorini.

At least 19 recordsLinked to original sources

Single-fiber electromyography of the laryngeal muscles.

Single-fiber electromyography (SFEMG) is useful in the evaluation of disorders of neuromuscular transmission and the assessment of motor unit morphology. Standard EMG techniques are used routinely in the evaluation of laryngeal dysfunction, but the feasibility of laryngeal SFEMG has not been established. We, therefore, performed laryngeal SFEMG in 10 normal individuals to demonstrate the feasibility of the technique and generate preliminary normative data. We also studied 2 patients with amyotrophic lateral sclerosis and 1 patient previously treated with botulinum toxin for comparative purposes.

Adult

Focal myositis presenting with radial nerve palsy.

Focal myositis is a rare inflammatory pseudotumor of skeletal muscle which usually has a benign course. We report a 56-year-old woman with a painful mass in the left arm with a radial nerve palsy. Magnetic resonance imaging (MRI) of the left arm showed a mass in the triceps muscle that was suggestive of a soft-tissue sarcoma. Electromyography showed a severe radial neuropathy involving both motor and sensory axons. An open biopsy showed focal myositis. Treatment with corticosteroids resulted in complete disappearance of the mass clinically and by MRI, without recurrence for more than 2 years. Radial nerve function also recovered completely. As a treatable cause of focal neuropathy, focal myositis should be included in the differential diagnosis of a muscle mass.

Electromyography

Bilateral ophthalmoplegia and exophthalmos complicating central hemodialysis catheter placement.

We describe a 58-year-old woman who presented with bilateral ophthalmoplegia, exophthalmos, and headache and was found to have retrograde internal jugular vein flow secondary to a high-grade obstruction of the ipsilateral brachiocephalic vein from a previous hemodialysis catheter placement. The patient had also a high-flow dialysis graft in the ipsilateral arm. The cranial and extracranial venous system congestion resolved, and the signs disappeared soon after a balloon angioplasty and stent placement at the level of the obstruction.

Angioplasty, Balloon

Hypophosphatemia-induced neuropathy: clinical and electrophysiologic findings.

Severe hypophosphatemia has rarely been reported as a cause of acute paralysis. We present the clinical and electrophysiological findings on a patient who developed quadriparesis following several surgeries for complicated cholecystectomy. The paralysis was most likely the result of severe hypophosphatemia causing a neuropathy which improved readily after proper phosphate replacement. The possible pathogenic mechanisms of hypophosphatemic neuropathy are discussed.

Cholecystectomy

Demyelinating neuropathy in a patient with multiple sclerosis and genotypical HMSN-1.

Patients with multiple sclerosis (MS) may develop a peripheral neuropathy, sometimes attributed to nutritional deficiency. Other patients present with a demyelinating neuropathy which is presumed to be the result of an autoimmune process that affects both the central and peripheral nervous systems. We report a case of concurring MS and demyelinating neuropathy, without a positive family history, in whom genetic testing proved the neuropathy to be hereditary and not autoimmune. Hereditary neuropathy should be a consideration in sporadic cases of peripheral neuropathy and MS.

Adult

Remission of myasthenia gravis caused by proteinuria in nephrotic syndrome.

Myasthenia gravis is caused by antibodies against acetylcholine receptors and is treated with inhibition or elimination of antibody production. We report a 43-year-old myasthenic female who was symptomatic until she developed proteinuria from nephrotic syndrome, which caused a marked drop in acetylcholine receptor antibody titer with remission of myasthenia. Treatment of the nephrotic syndrome produced exacerbation of her myasthenia and a rise in antibody level. This patient's improvement is the result of antibody elimination during proteinuria in nephrotic syndrome.

Adult

Neurologic and neuropsychiatric complications of Crohn's disease.

The literature contains sporadic accounts of neurologic complications occurring in patients with Crohn's Disease (CD). The pathogenesis of these is unknown and little has been reported about their incidence. Our review of the medical records of 253 patients with confirmed CD showed that neurologic and neuropsychiatric complications were evident in 84 of the patients, an incidence of 33.2%. In some the association could be casual, but in others the incidence of such complications was higher than that in the general population, suggesting a direct relationship with CD in 19.3%. Our study revealed a variety of neurologic and neuropsychologic events, such as seizure disorder, cerebrovascular accident, headache, peripheral neuropathy, myopathy, and major depression. We believe that an autoimmune phenomenon affecting the small vessels of the central and peripheral nerves may cause the most common neurologic complications of CD.

Adolescent

Tongue involvement in a patient with granulomatous myositis.

A 64-year-old woman had difficulty swallowing and talking, weakness of the tongue, and progressive muscle weakness that was proven to be caused by a granulomatous myopathy. This case resembled a motor neuron disease, indicating that granulomatous myopathy should be considered in patients with similar presentations, since it is a treatable condition with a more benign prognosis.

Anti-Inflammatory Agents

Encephalopathy due to capillary leak syndrome.

Systemic capillary leak syndrome (SCLS) is characterized by intermittent attacks of leakage of intravascular fluids into the extravascular space. Hypovolemia, hemoconcentration, weakness, edema, and visceral congestion are resulting manifestations of SCLS. Most patients with SCLS have clear mentation during attacks, and encephalopathy is not a known manifestation of the syndrome. We report a patient with acute idiopathic capillary leak syndrome manifested in an acute encephalopathy. The possibility of SCLS should be considered in patients who have an encephalopathy and hemoconcentration.

Brain Diseases

Cervical kyphosis after resolution of myopathic head drop. A case report.

STUDY DESIGN: This is a case report. OBJECTIVES: To present a case of cervical kyphosis after resolution of myopathic head drop. SUMMARY OF BACKGROUND DATA: Myopathic head drop is a severe and persistent local myopathy that never progresses beyond the neck extensor muscles. METHODS: A case is reported of a hospitalized psychiatric patient who experienced the sudden onset of severe neck extensor weakness consistent with myopathic head drop. RESULTS: Although myopathic head drop resolved after 2 years, it left a disabling residual skeletal deformity of the cervical spine. CONCLUSIONS: Myopathic head drop may be a cause of cervical kyphosis.

Adaptation, Physiological

Solitary focal demyelination in the brain as a paraneoplastic disorder.

Solitary focal demyelination (SFD) in the brain is an uncommon and poorly understood disorder of uncertain etiology that may represent an intermediate entity between multiple sclerosis and acute disseminated encephalomyelitis. In a few reported cases of SFD, the patient was briefly noted to have a nonneurological malignancy. We studied two patients who had solitary focal lesions in the brain. Utilizing magnetic resonance imaging and tissue biopsy, we found the characteristics of the brain lesions in these two patients to be those of SFD. In our combined experience over the past 10 years, we have encountered no similar brain lesions at our medical center. We found it remarkable that both of these patients also had malignancy outside of the nervous system. One had a seminoma, and the other a lymphoma. We conclude that some cases of SFD in the brain may occur as a paraneoplastic disorder associated with nonneurological malignancies.

Adult