1/16. Isolated sulfite oxidase deficiency: review of two cases in one family.OBJECTIVE: The authors describe two cases of isolated sulfite oxidase deficiency found in one family. This is a rare autosomal-recessive disorder presenting at birth with seizures, severe neurologic disease, and ectopia lentis. It can be easily missed with metabolic screening; however, the finding of lens subluxation stresses the importance of ophthalmic assessment in making the diagnosis. DESIGN: Two observational case reports. INTERVENTION/methods: Ophthalmic assessment, biochemical assay for specific urinary and plasma metabolites, magnetic resonance imaging, and gene sequencing were used to make the diagnosis of the disease in the proband. The diagnosis was subsequently recognized in a previously affected sibling after the postmortem neuropathology was reviewed. mutation analysis was performed on cultured fibroblasts from the proband to identify and categorize the specific mutation responsible for the disease in the family. From this, future prenatal detection of sulfite oxidase deficiency is possible. MAIN OUTCOME MEASURES: The diagnosis of sulfite oxidase deficiency was established in this family, enabling appropriate genetic counseling and recurrence risk estimation. RESULTS: Point mutations were found in both alleles of the sulfite oxidase gene in the proband. The first is a 623C-->A mutation, which predicts an A208D substitution, and the second is a 1109C-->A, which predicts an S370Y substitution. Both residues A208D and S370Y are critical for sulfite oxidase activity. CONCLUSIONS: Isolated sulfite oxidase deficiency is a rare heritable disease for which mutation analysis can allow accurate prenatal screening. It often is difficult to diagnose by clinical presentation alone, but the critical finding of lens subluxation accompanying seizures and diffuse neurologic disease in an infant should alert the physician to the diagnosis.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/16. Chronic relapsing thrombocytopenic purpura with severe neurological manifestations and full recovery.Neurological complications in thrombotic thrombocytopenic purpura (TTP) are associated with poor prognosis and/or permanent damage. We report a young woman in whom the diagnosis of TTP was difficult because cardinal manifestations were absent at presentation. The patient relapsed, showing severe and dramatic neurological manifestations, including coma. She was treated with multiple therapeutic modalities and recovered fully with no neurological sequelae. The difficulties involved in the management of chronic relapsing TTP are discussed. In the absence of clear guidelines, patients are still subjected to different treatment modalities according to the personal opinions and approaches of physicians. Clearly, well-controlled clinical trials to address this problem are required.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
3/16. Neurologic services in sub-Saharan africa: a case study among Zambian primary healthcare workers.INTRODUCTION: In many parts of the developing world, access to physician consultation and neurologic expertise is limited or nonexistent. We conducted a survey among non-physician, primary healthcare workers (PHCWs) to determine the neurological needs and services in rural zambia. methods: Semi-structured written questionnaire utilizing fill-in-the-blank, multiple-choice likert-scaled questions, and open-ended questions. RESULTS: seizures were reported as the most common neurologic disorder by 66% of the PHCWs. Only 1/3 of PHCWs reported feeling adequately trained to care for seizures and seizure disorders. PHCWs reported even less expertise for other neurologic conditions. Over 40% of PHCWs surveyed work in primary care clinics without a physician available for consultation. Their patients must travel a median of 50 km to access a physician and geographic barriers are a frequent problem. In addition to difficulty physically accessing care, PHCWs reported that financial barriers to physician referral are substantial. Expenses cited include additional user fees for physician-level care, transportation costs, and the cost of maintaining the patient and/or family at a site distant from the home village. Traditional beliefs, social stigma, and discriminatory healthcare policies associated with neurologic conditions were also noted to deter and defer care and care seeking. CONCLUSIONS: PHCWs lack sufficient training and experience to care for the neurologic disorders in their patient populations, although such disorders are relatively common. Geographic, financial and cultural barriers substantially limit physician referrals. To assure at least a minimal quality of care for people with nervous system disorders in zambia, PHCWs' neurologic education must be increased and barriers to physician referral decreased.- - - - - - - - - - ranking = 8keywords = physician (Clic here for more details about this article) |
4/16. diabetes mellitus and autonomic dysfunction after vacor rodenticide ingestion.A case of N-3 pyridylmethyl-N' 4 nitrophenyl urea (Vacor) rodenticide poisoning in a 52-year-old man is presented. Vacor is structurally related to alloxan and streptozotocin, agents that have been used extensively to produce diabetes mellitus in laboratory animals. Seven days after ingestion of Vacor, the patient presented in diabetic ketoacidosis complicated by postural hypotension and adynamic ileus. The patient recovered from ketoacidosis but has continued to require insulin. With infusion of arginine, glucagon rose from 185 to 650 pg./ml. and c-peptide from 0.5 to 3.4 ng./ml. Six weeks after onset of diabetes, no anti-islet-cell antibodies were detected. Muscle capillary basement membrane thickness on electron microscopy was found to be 1,918 /- 194 A. The absence of hyperglycemia after Vacor ingestion should not lead to complacency on the part of the attending physician. The patient must be observed closely for development of ketoacidosis and treated prophylactically with nicotinamide, the suggested antidote.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
5/16. Coalescence of psychiatry, neurology, and neuropsychology: from theory to practice.In a climate of renewed interest in the synergy between neurology and psychiatry, practitioners are increasingly recognizing the importance of exchange and collaboration between these two disciplines. However, there are few working models of interdisciplinary teams that freely share expertise in real time, while providing clinical and academic training to future physicians who specialize in the central nervous system. Over the past 11 years, the McLean Hospital neuropsychiatry and Behavioral neurology service has provided proof-of-principle for such collaboration, demonstrating that a team comprising psychiatrists, neurologists, and neuropsychologists can function effectively as a unit while maintaining the autonomy of these three disciplines and also synthesizing their combined knowledge. In addition to delivering enhanced patient care and promoting medical research, this clinical service has provided enriched cross-specialty training for fellows, residents, and medical students. The practical functioning of the team is described, and case vignettes are presented to illustrate the team's collaborative synergism in practice.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
6/16. Recognizing an index case of type 1 neurofibromatosis.Neurofibromatosis is a relatively common autosomal dominant disorder with variable penetrance. The disorder usually presents in childhood. Hallmarks of type 1 neurofibromatosis are cafe-au-lait macules and neurofibromas. Neurologic complications include mental retardation, learning disabilities and seizures. Tumors of the eighth cranial nerve, as well as other intracranial and spinal neoplasms, are the typical lesions in type 2 neurofibromatosis. Both forms of neurofibromatosis have a highly variable course and may result in progressive neurologic deterioration, disfigurement and impingement syndromes. In the 50 percent of cases that represent new mutations, diagnosis may be delayed if the physician is not familiar with the salient features of the disorder. Thorough initial evaluation, genetic counseling and close follow-up are important aspects of management.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
7/16. Neuro-ocular Lyme borreliosis.Any patient who has a Bell's palsy (unilateral or bilateral), aseptic meningitis, chronic fatigue syndrome, atypical radiculoneuropathy, presenile dementia, atypical myopathy, or symptoms of atypical rheumatoid arthritis should be asked specifically about the following: visits to highly endemic areas, any known tick bites, any skin lesion suggestive of erythema migrans, any history of palpitations or of prior Bell's palsy, aching in joints (especially the knees), paresthesias, chronic fatigue and depression, forgetfulness, and eye problems. Any patient showing a chronic iritis with posterior synechiae, vitritis in one or both eyes, an atypical pars planitis-like syndrome, big blind spot syndrome, and swollen or hyperemic optic discs should be asked the same questions. The physician should send one red-top tube of blood containing 2 to 3 ml serum to microbiology Reference Laboratory, 10703 Progress Way, Cypress, CA 90630-4714, requesting a Lyme/treponemal panel. For $90 the patient will receive an RPR test with titer, serum FTA-ABS test, serum Lyme IFA IgG and IgM, and a serum Lyme ELISA test. If these tests are within normal limits and the physician is still suspicious, a Western blot can be ordered on serum. A green top tube with fresh white blood cells sent out by overnight express on a Monday or Tuesday will produce a Lyme PCR and a lymphocyte stimulation test. Finally, R.K. Porschen, director of MRL Laboratory, will provide information on the urine antigen test on an investigational basis. A careful history with emphasis on the specific questions noted above, a complete neuro-ophthalmological and physical examination ruling out other causative problems, and the laboratory studies here discussed will usually provide sufficient data to choose therapy. Much further active research into Lyme borreliosis is an important priority in medicine.- - - - - - - - - - ranking = 2keywords = physician (Clic here for more details about this article) |
8/16. neurologic manifestations of vitamin B-12 deficiency in a military hospital.Although it is well recognized that patients with cobalamin (vitamin B-12) deficiency can develop neuropsychiatric problems, primary care physicians do not frequently realize that patients presenting with only vague neurologic complaints can have vitamin B-12 deficiency as the etiology. During a 1-year period, six patients presented to the neurology Clinic at Brooke Army Medical Center, Fort Sam Houston, texas, after evaluation at the primary care level for their neurologic complaints. All six had cobalamin deficiency, and none were anemic. Military primary care physicians should be aware of the various neurologic presentations of these patients.- - - - - - - - - - ranking = 2keywords = physician (Clic here for more details about this article) |
9/16. Grisel's syndrome. Cervical spine clinical, pathologic, and neurologic manifestations.Grisel's syndrome involves the subluxation of the atlantoaxial joint from inflammatory ligamentous laxity following an infectious process. Even though it was first described in 1830, it is a rare disease usually affecting children, but infrequent adult cases do occur. patients generally seek treatment for progressive unrelenting throat and neck pain followed by torticollis and subluxation. Neurologic complications occur in approximately 15% of cases and can range from radiculopathy to myelopathy and even death. Principles of management include bacteriologic cure and correction of bony deformity and neurologic protection. The authors present two adult patients with Grisel's syndrome. The first illustrates the permanent spinal deformity that can occur if the disease remains unrecognized for a prolonged period of time. The second case demonstrates a delayed neurologic complication in an adult who had Grisel's syndrome in childhood. It is hoped that these two examples, together with a detailed discussion of the literature, will inform physicians of an unusual but important condition to be considered in the differential diagnosis of any patient complaining of neck pain.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
10/16. 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.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
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