Biomedical subjects

A G Alessi

Publications and source records attributed to A G Alessi.

7 recordsLinked to original sources

PubMed1995

Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature.

Acid maltase deficiency (AMD) is a rare cause of muscle disease in adult patients. The present report of 2 sibs and review of 36 previously reported cases illustrates the vast clinical variability in adult-onset AMD. This is 1 of only 3 reports to document tongue weakness and enlargement in an adult with AMD. The presenting signs and symptoms usually include progressive limb weakness, restrictive lung disease, or both. Consistent supportive abnormalities include a modest elevation in serum CK, a reduction in the forced vital capacity, and abnormal spontaneous activity (that is, myotonic discharges or fibrillations) in resting muscles during needle electromyography. The clinical spectrum is also extended to include distal limb weakness, scapular winging, asymmetric muscle weakness, and tongue involvement.

Female↗

PubMed1989

Psychogenic respiratory distress.

Five patients developed recurrent episodes of psychogenic respiratory difficulty that were superimposed on psychogenic neurologic symptoms. Misdiagnosis resulted in long hospital stays, code blue alerts, intubation, mechanical ventilation, and, in one case, tracheostomy. Patients "learned" psychogenic respiratory distress because their breathing symptoms evoked distinct evidence of anxiety in physicians and staff. In these patients, gain was not incidental but exerted primary control over symptom selection. The behavioral mechanisms involved in the pathogenesis of psychogenic respiratory distress have significant implications for its diagnosis, treatment, and prevention.

Adult↗

PubMed1989

Electrodiagnostic evolution of carcinomatous sensory neuronopathy.

Sensory neuronopathy is a well-recognized remote effect of carcinoma. We report the clinical and electrodiagnostic evolution of a sensory neuronopathy in a patient with carcinoma of the lung. Serial electrophysiologic studies suggest transformation from normal peripheral nerve function through early posterior root involvement to absent sensory nerve function. Diffuse motor conduction abnormalities occurred late in the disease, perhaps reflecting motor axon changes associated with disuse.

Carcinoma, Small Cell↗

PubMed1988

Neurological abnormalities associated with remote occupational elemental mercury exposure.

We examined 502 subjects, 247 of whom had occupational elemental mercury exposures 20 to 35 years previously, to identify potential exposure-related neurological abnormalities. Few significant (p less than 0.05) differences existed between exposed and unexposed subjects. However, multiple linear regression analysis demonstrated several significant correlations between declining neurological function and increasing exposure as determined by urine mercury measurements from the exposure interval. Subjects with urine mercury peak levels above 0.6 mg/L demonstrated significantly decreased strength, decreased coordination, increased tremor, decreased sensation, and increased prevalence of Babinski and snout reflexes when compared with the remaining subjects. Furthermore, subjects with clinical polyneuropathy had significantly higher peak levels than normal subjects (0.85 vs 0.61 mg/L; p = 0.04), but not increased exposure duration (20.1 vs 20.8 quarters; p = 0.34), and 28% of subjects with peak levels above 0.85 mg/L had clinical evidence of polyneuropathy, compared with 10% of remaining subjects (p = 0.005). Although exposure was not age dependent, several neurological measures showed significant age-mercury interaction, suggesting that natural neuronal attrition may unmask prior exposure-related subclinical abnormalities.

Aging↗

PubMed1987

Cortical blindness: etiology, diagnosis, and prognosis.

We examined 15 patients with cortical blindness, reviewed the records of 10 others, and compared these 25 patients to those in previous studies of cortical blindness. Although cerebrovascular disease was the most common cause in our series, surgery, particularly cardiac surgery, and cerebral angiography were also major causes. Only 3 patients denied their blindness, although 4 others were unaware of their visual loss. Electroencephalograms (EEGs) were performed during the period of blindness in 20 patients and all recordings were abnormal, with absent alpha rhythm. Visual evoked potentials recorded during blindness were abnormal in 15 of 19 patients, but did not correlate with the severity of visual loss or with outcome. Bioccipital lucencies were found in computed tomographic (CT) scans of 14 patients; none of the 14 regained good vision. Recovery of vision was poor in all 8 patients who had a spontaneous stroke, but fair or good in 11 of the other 17 patients. Prognosis was best in patients under the age of 40 years, in those without a history of hypertension or diabetes mellitus, and in those without associated cognitive, language, or memory impairments. We conclude that the prognosis in cortical blindness is poor when caused by stroke; EEGs are more useful than visual evoked potentials for diagnosis; and bioccipital abnormalities shown on CT scan are associated with a poor prognosis.

Blindness↗

PubMed1987

Acute sensory neuropathy-neuronopathy from pyridoxine overdose.

We report two patients who developed an acute, profound, and permanent sensory deficit after treatment with massive doses of parenteral pyridoxine. Aside from rapid onset, their clinical picture resembles that described in chronic pyridoxine neurotoxicity. It also is consonant with experimental models of acute pyridoxine intoxication and is probably secondary to a sensory ganglion neuronopathy. These patients also had transient autonomic dysfunction, mild weakness, nystagmus, lethargy, and respiratory depression. These previously undocumented features may be attributable to either the preservative used in the parenteral pyridoxine preparation or to the exceptionally high doses of pyridoxine these patients received.

Acute Disease↗

PubMedDate not supplied

Ictal cortical blindness with permanent visual loss.

Cortical blindness is rarely an ictal manifestation. We report the case of a man who developed transient cortical blindness followed by permanent visual deficits during repeated partial seizures. Intermittent visual impairment began at age 14 years. After he had the first generalized seizure at age 28 years, neurologic, ophthalmologic, angiographic, and brain computed tomographic (CT) examinations were normal. Several EEGs showed almost continuous biposterior spike-waves. Over the next several years, frequent partial seizures were associated with transient visual loss and left body twitching or paresthesias. When he was 32, transient blindness occurred during several days of repeated occipital seizures. Permanent left homonymous hemianopia, right homonymous central scotoma, dyschromatopsia, and altered stereopsis followed these seizures. Brain CT demonstrated a new right occipital lesion. Partial seizures arising posteriorly may cause transient cortical blindness and result in permanent visual deficits.

Adult↗