Cases reported "Nervous System Diseases"

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1/28. Can neurologic manifestations of Hughes (antiphospholipid) syndrome be distinguished from multiple sclerosis? Analysis of 27 patients and review of the literature.

    Hughes (antiphospholipid) syndrome (APS) can mimic multiple sclerosis (MS). We analyzed the clinical, laboratory, and imaging findings of MS-like expression in a cohort of patients with APS in an attempt to identify parameters that might differentiate the 2 entities. We studied 27 patients who were referred to our unit with the diagnosis of probable or definite MS made by a neurologist. All patients were referred to our lupus clinic because of symptoms suggesting an underlying connective tissue disease, uncommon findings for MS on magnetic resonance imaging (MRI), atypical evolution of MS, or antiphospholipid antibody (aPL) positivity. aPL, antinuclear antibody (ANA), anti-dsDNA, and anti-extractable nuclear antigen (ENA) antibodies were measured by standard methods. MRI was performed in every patient and compared with MRI of 25 definite MS patients who did not have aPL. An index severity score was calculated based on the size and number of increased signal intensity areas in MRI. In the past medical history, 8 patients with primary APS and 6 with APS secondary to systemic lupus erythematosus (SLE) had had symptoms related to these conditions. Neurologic symptoms and physical examination of the patients were not different from those common in MS patients. Laboratory findings were not a useful tool to distinguish APS from MS. When MRI from APS patients was compared globally with MRI from MS patients, MS patients had significantly increased severity score in white matter (p < 0.001), cerebellum (p = 0.035), pons (p < 0.015), and when all areas were taken together (p < 0.001). patients with APS had significantly increased scores in the putamen (p < 0.01). No differences were noticed in the degree of atrophy. When taken individually, MRI from APS patients could not be distinguished from MRI from MS patients. Most of the patients with primary APS showed a good response to oral anticoagulant treatment. In patients with secondary APS, the outcome was poorer. Hughes syndrome (APS) and MS can be difficult to distinguish. A careful medical history, a previous history of thrombosis and/or fetal loss, an abnormal localization of the lesions in MRI, and the response to anticoagulant therapy might be helpful in the differential diagnosis. We believe that testing for aPL should become routine in all patients with MS.
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2/28. The role of MRI and nerve root biopsy in the diagnosis of neurosarcoidosis.

    OBJECTIVES: Neurological involvement occurs in 5-15% of patients with sarcoidosis and isolated "neurosarcoidosis" occurs in less than 1% of all cases. Classical clinical presentations have been described, such as bilateral facial palsy, but often the disease presents insidiously with varied signs and symptoms. We present a patient who required biopsy of a lumbar nerve root for diagnosis of chronic, progressive neurosarcoidosis and review the literature with an emphasis on diagnosis. methods: We have reviewed a patient who presented with signs and symptoms related to infiltration of her meninges and nerve roots by sarcoidosis. All pertinent history and physical information was taken from interviews with the patient and review of her chart. Laboratory, radiographic, and pathological investigations are presented. RESULTS AND CONCLUSIONS: A high index of suspicion is required for the diagnosis of neurosarcoidosis. gadolinium-enhanced MRI is useful but the findings are often nonspecific, and there should be a low threshold for biopsy whenever the diagnosis is considered.
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3/28. 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.
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4/28. magnetic resonance spectroscopy in pediatric neurology.

    In the last three decades a range of non-invasive biophysical techniques have been developed, of which Magnetic Resonance (MR) has proved to be the most versatile. Its non-invasive and safe nature has made it the most important diagnostic and research tool in clinical medicine. MR Spectroscopy (MRS) is the only technique in clinical medicine that provides non-invasive access to living chemistry in situ. This article focuses mainly on proton MRS in brain and also phosphorus MRS in calf muscle, with particular reference to the pediatric population, the normal spectrum and its use in various disease conditions in the practice of pediatric neurology. Few representative case studies among different disease groups have also been detailed.
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5/28. septo-optic dysplasia: a literature review.

    BACKGROUND: septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia with any combination of absent septum pellucidum and/or pituitary dysfunction. SOD may manifest as strabismus, nystagmus, decreased visual acuity, or visual impairment; as an endocrine dysfunction in isolation; or in addition to mental retardation, cerebral palsy, developmental delay, or delayed growth. METHOD: This article reviews the presenting signs and symptoms of SOD, optic nerve hypoplasia, consequences of an absent septum pellucidum, endocrine findings associated with SOD, SOD diagnosis determination, syndromes associated with SOD, and optometry's role in caring for these patients. It also examines two cases that demonstrate the variety and severity of visual and physical impairments associated with SOD. RESULTS: SOD has a multi-factorial etiology, including insult during pregnancy (e.g., viral infections, gestational diabetes); vascular disruption; or a genetic mutation. Children with SOD may manifest a variety of visual and/or physical symptoms that range from mild to severe. CONCLUSIONS: The associated vision, developmental, neurologic, and endocrine disturbances require early diagnosis and management. Optometrists need to be aware of optic nerve hypoplasia (ONH) and consider this diagnosis in patients with visual acuity loss. A comprehensive eye examination and visual-field assessment should be completed in addition to appropriate referrals for endocrine, developmental, and/or cognitive anomalies.
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6/28. Neurological complications in one of a sibpair with aplasia cutis congenita.

    We describe two sibs with aplasia cutis congenita, one of whom has developed moya-moya disease resulting in severe physical handicap and mental retardation. The presence of aplasia cutis congenita should at least alert the clinicians to the possibility of a co-existing central nervous system lesion.
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7/28. Cognitive performance in multiple system atrophy.

    The cognitive performance of a group of patients with multiple system atrophy (MSA) of striato-nigral predominance was compared with that of age and IQ matched control subjects, using three tests sensitive to frontal lobe dysfunction and a battery sensitive to memory and learning deficits in Parkinson's disease and dementia of the Alzheimer type. The MSA group showed significant deficits in all three of the tests previously shown to be sensitive to frontal lobe dysfunction. Thus, a significant proportion of patients from the MSA group failed an attentional set-shifting test, specifically at the stage when an extra-dimensional shift was required. They were also impaired in a subject-ordered test of spatial working memory. The MSA group showed deficits mostly confined to measures of speed of thinking, rather than accuracy, on the Tower of london task. These deficits were seen in the absence of consistent impairments in language or visual perception. Moreover, the MSA group showed no significant deficits in tests of spatial and pattern recognition previously shown to be sensitive to patients early in the course of probable Alzheimer's disease and only a few patients exhibited impairment on the Warrington Recognition memory Test. There were impairments on other tests of visual memory and learning relative to matched controls, but these could not easily be related to fundamental deficits of memory or learning. Thus, on a matching-to-sample task the patients were impaired at simultaneous but not delayed matching to sample, whereas difficulties in a pattern-location learning task were more evident at its initial, easier stages. The MSA group showed no consistent evidence of intellectual deterioration as assessed from their performance on subtests of the Wechsler adult intelligence Scale (WAIS) and the National adult reading Test (NART). Consideration of individual cases showed that there was some heterogeneity in the pattern of deficits in the MSA group, with one patient showing no impairment, even in the face of considerable physical disability. The results show a distinctive pattern of cognitive deficits, unlike those previously seen using the same tests in patients with Parkinson's and Alzheimer's diseases, and suggesting a prominent frontal-lobe-like component. The implications for concepts of 'subcortical' dementia and 'fronto-striatal' cognitive dysfunction are considered.
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8/28. Primary hyperparathyroidism and neuropsychiatric alterations in a nonagenarian woman.

    Whether elderly patients with asymptomatic or minimally symptomatic primary hyperparathyroidism (PHPT) should be treated or not is still under debate. Several literature reports have shown improvements in terms of bone density and physical and mental well-being after surgical resolution of PHPT. Here, we present the case of a 93-year-old hypertensive woman, who had suffered for one year from cognitive impairment, accompanied during the last month by behavioral alterations (and polyuria and polydipsia), which resulted in sopor leading to hospitalization. A CT brain scan evidenced cortical atrophy and cerebrovascular disease, and biochemical analyses were remarkable for hypercalcemia (11.4-12.6 mg/dL, corrected for albumin levels) associated with increased parathormone levels (95.4-100.6 pg/mL). A diagnosis of PHPT was established. densitometry evaluation of radius showed osteopenia. Withdrawal of psycho-therapy drugs and thiazidic, together with i.v. saline hydration and loop diuretics, significantly improved the patient's mental state and resolved behavioral alterations. As the patient and her relatives refused the surgical option, and the clinical situation improved after medical normalization of calcium levels, PHPT was managed conservatively, and calcium levels were maintained within the normal range through i.v. administration of zoledronate at 8-week intervals. Our case highlights the importance of considering hypercalcemia as the cause of onset of behavioral alterations and worsening of mental condition in elderly patients with cognitive decline. Therapy with bisphosphonates in patients with PHPT who are unfit for or refuse surgery seems advisable, but needs further study.
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9/28. Exacerbation of preexisting neurological deficits by neuraxial anesthesia: report of 7 cases.

    We undertook this case series to determine if preexisting neurological disease is exacerbated by either spinal or epidural anesthesia. In the website of the arachnoiditis Foundation, we posted an offer to advise anesthesiologists in cases of neurological problems after either of these techniques was used. Contacts were made first by way of the internet, confirmed by telephone, and maintained by fax, e-mail, or by special mail. patients here described were cared for and observed by one of the authors, in a hospital, in argentina or in mexico. A total of 7 adult, ASA physical status I and II patients, including 3 men and 4 women, with subtle symptoms of neurological disease before anesthesia, are described. Two patients had continuous lumbar epidural anesthesia, 3 had spinals; in 2 more, attempted epidural blocks led to accidental dural puncture and were converted to subarachnoid anesthetics. All patients accepted neuraxial anesthesia without informing the anesthesiologists that they had mild neurological symptoms before surgery. Because anesthesiologists did not specifically inquire about subclinical neurological symptoms or prior neurological disease, anesthesiologists are advised to carefully inquire about prior neurological disease whether neuraxial anesthesia techniques are considered.
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10/28. thigh compartment syndrome secondary to intertrochanteric hip fracture in a quadriplegic patient: case report.

    compartment syndromes in the thigh are rare and the diagnosis may be difficult in the light of subtle early physical findings in the patient with spinal cord injury. Clinical awareness of the impending compartment syndrome is important to provide timely proper treatment and avoid disabling deformities. A compartment syndrome should not be ignored in the paraplegic, because the potential for late fibrosis and contractures may limit the independence of such patients. Greater awareness and index of suspicion are needed to successfully recognize and promptly treat the compartment syndrome in this patient population.
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