[Spanish version of the Autonomic Symptom Profile test]. / Versión española del test perfil de síntomas autonómicos.

INTRODUCTION: The Autonomic Symptom Profile (ASP) is a self-administered questionnaire that has been validated in English to assess autonomic symptoms and to differentiate between patients and healthy subjects according to said symptoms. Our group has studied its application in Spanish. SUBJECTS AND METHODS: After translating the English version into Spanish and then back-translating it, the reliability and validity of criteria in the Spanish version of the ASP test were evaluated in a sample of 50 subjects (27 controls and 23 patients). All the patients with symptoms of autonomic dysfunction were studied by means of the Ewing and Clarke battery. RESULTS: The reliability of the Spanish version of the ASP was high and an interclass correlation coefficient of 0.93 was obtained. A score of 47 or over in the test yields a sensitivity of 73.9% and a specificity of 100% for the detection of autonomic dysfunction. Furthermore, the score in the Spanish version of the ASP test showed statistically significant differences between the group of patients and the control group. CONCLUSIONS: The Spanish version of the ASP is reliable and makes it possible to distinguish between patients with autonomic dysfunction and control subjects. As far as we are aware, this is the first test to evaluate the symptoms of the autonomic nervous system in a global manner and in Spanish.

[Lepra: an uncommon cause of infectious neuropathy]. / Lepra: causa infrecuente de neuropatía potencialmente tratable.

INTRODUCTION: Lepra is an uncommon disease within our setting. However, it was considered the most frequent cause of polyneuropathy only 50 years ago. CASE REPORT: We present the case of a 37 year-old woman who consulted due to paresthesias in both hands and feet, livedo reticularis and complaints of frequent hand lesions. Examination of the skin detected nodular lesions and the neurophysiological study confirmed distal symmetric sensitive polyneuropathy with axonal predominance. The skin biopsy also showed histocytic infiltrate and mycobacterium lepra type intracytoplasmatic bacilli. This led to the diagnosis of Multibacillary lepromatous leprosy. Multiple treatment was begun, according to the World Health Organization recommendations, with good evolution. In spite of the attempts to eradicate lepra, its incidence continues to be elevated, especially in endemic areas, among which the south of Spain is included. It is generally associated to overcrowding and low social-economic level. CONCLUSIONS: This is the last endemic case in the Valencian Community. The possibility of lepra should be considered among the possible causes of sensitive polyneuropathy, above all in patients in endemic areas.

[Statins and neuromuscular pathology]. / Estatinas y patología neuromuscular.

INTRODUCTION: Statins represent a group of pharmaceutical agents with proven effectiveness and scarce side effects; however, their widespread use increases the probability of the appearance of such adverse effects. DEVELOPMENT: We reviewed the articles that have been published on myotoxicity, neurotoxicity and other cases of disorders affecting the peripheral nervous system, both in reviews and in clinical trials and isolated cases. The frequency of appearance, clinical repercussion, proposed physiopathogenetic mechanisms were analysed in order to draw conclusions regarding the therapeutic attitude that should be adopted. CONCLUSIONS: Generally speaking they are safe pharmaceuticals, but the physician must pay attention to the appearance of possible side effects, given their potential reversibility and lower degree of severity if they are diagnosed at an early stage.

[Bilateral papilloedema as the initial symptom of POEMS syndrome]. / Edema de papila bilateral como manifestación inicial de un síndrome de POEMS.

INTRODUCTION: Oedema of the papilla, or papilloedema, is usually due to intracranial hypertension, but can sometimes be the initial symptom of systemic diseases like Guillain-Barre syndrome, neurosarcoidosis, Leber's disease, Lyme disease or POEMS syndrome, among others. We report on a case that occurred at the Hospital General Universitario in Alicante, in which papilloedema was the initial symptom of POEMS syndrome. CASE REPORT: A 36-year-old female, with no relevant past history, who visited after suffering a left-side frontal oppressive headache for five days; onset was sudden, there was no concomitant nausea or vomiting, it did not get worse when Valsalva manoeuvres were performed and there were no other accompanying symptoms. The examination revealed nasal blurring in the visual field of the right eye and papilloedema in the left eye, hyperpigmentation of the skin on the face and upper chest area that respected creases in the skin, painful distal tactile hypaesthesia in the lower limbs and bilateral areflexia of Achilles' tendons and patellar hyperreflexia. After conducting a number of different complementary tests intracranial space-occupying lesions and intracranial hypotension were both ruled out and the patient was diagnosed with mixed-type sensory-motor chronic polyneuropathy in the upper limbs, and in the lower extremities with predominantly distal involvement, bilateral oedema of the papilla and skin photosensitivity. Two years later the patient had hepatomegaly, subclinical hypothyroidism and sclerodermiform alterations of the skin, which suggested a probable diagnosis of POEMS syndrome that was later confirmed by the presence of monoclonal component in blood and urine. CONCLUSIONS: Papilloedema is rarely seen as the initial symptom of POEMS syndrome, but it must be included in the differential diagnosis of this pathology due to the diagnostic and therapeutic implications it entails.

[Schwannoma of the hypoglossal nerve presenting as a syndrome of Collet-Sicard]. / Síndrome de Collet-Sicard como presentación de schwannoma del nervio hipogloso.

Collet-Sicard is a rare syndrome that consists of the palsy of all the lower four cranial nerves. We describe this entity in relation with a schwannoma of the hypoglossal nerve. A 45 year-old-patient was admitted to the hospital referring hoarseness and difficulty in swallowing for two weeks. On neurological examination, the patient exhibited palsy of the ninth, tenth, eleventh and twelfth nerves. This is a syndrome of Collet-Sicard. The cranial MRI revealed a small intracranial and extracranial tumor adjacent to the hypoglossal foramen. The tumor involved the jugular foramen and was moderately enhanced with gadolinium The patient underwent surgical removal. The pathologic examination of the surgical specimen confirmed the diagnosis of a schwannoma of the hypoglossal nerve. We have carried out a research of the Collet-Sicard syndrome and of its aetiology. Although schwannoma the hypoglossal nerve is a rare disorder we consider that this entity should be included in the differential diagnosis of the Collet-Sicard syndrome.

[The value of orbit magnetic resonance imaging in the diagnosis of blindness caused by giant cell arteritis]. / Aportación de la resonancia magnética orbitaria al diagnóstico de la ceguera por arteritis de células gigantes.

INTRODUCTION: Giant cell arteritis (GCA) is a chronic vasculitis of middle-sized and large calibre vessels which occurs mainly in individuals aged over the age of 50. It chiefly affects the cranial branches of the arteries that originate in the aortic arch. Its most important characteristic symptoms include visual disorders, especially loss of sight; bilateral blindness, however, is infrequent. CASE REPORT: We describe the case of an 81-year-old female who visited because of sudden blindness and bilateral retroocular pain. The neurological exploration only revealed bilateral amaurosis, dilated pupils with the phenomenon of papillary escape, and no alterations to the ocular fundus. Laboratory tests showed a haemoglobin level of 12 mg/dL, ESR of 71 mm/hr and CRP of 2.3. Magnetic resonance imaging (MRI) and computerised tomography of the brain without intravenous contrast showed findings compatible with small vessel ischemic phenomena. Because a vasculitic process was suspected, orbit RMI was performed and revealed signal hyperintensity in the soft intraconal parts with respect to the extraocular muscles. A biopsy study of the left temporal artery was compatible with GCA. CONCLUSIONS: In cases of GCA with an atypical visual presentation, finding enhancement of the intraconal fat or of the optic nerve sheath in the RMI can support the suspicion of an arteritic process.

[Peripheral and optical myeloneuropathy in a folic acid deficient alcoholic patient]. / Mieloneuropatía periférica y óptica en un paciente alcohólico deficiente en ácido fólico.

INTRODUCTION: In Western countries, neurological disorders secondary to toxic nutritional problems usually present as isolated cases that are generally associated to identifiable causes (alcoholism, eating disorders, absorption disorders, use of medicines) that reduce the availability of basic nutrients, especially B group vitamins, but also folic acid (FA). The optic nerves and the peripheral axons are frequent target organs in this type of pathology, but leukoencephalopathy and spinal cord involvement may also appear, often in combination. CASE REPORT: We describe the case of a 38-year-old female smoker with a heavy alcohol habit, who developed a subacute clinical pattern of, predominantly axonal, sensitive peripheral polyneuropathy, with vegetative fibre involvement. She also presented involvement of the posterior spinal cord, which gave rise to an ataxic disorder in the gait, as well as a severe bilateral retrobulbar optic neuropathy. Likewise, she presented macrocytosis (MCV: 118) due to megaloblastosis. She was also found to have a FA deficit but a normal vitamin B12 metabolism. With the help of supplementary vitamins, stopping drinking and the regularisation of her diet, the patient presented progressive clinical improvement, and was able to walk without support at 3 months and almost completely recovered her sight, which was corroborated by an improvement in the studies of both visual and somatosensorial evoked potentials. CONCLUSIONS: In our community, alcoholism is a frequent cause of nutritional deficiencies, which lead to neurological problems. FA is one of the nutrients that become deficient in alcoholics. More and more descriptions are being reported of peripheral polyneuropathy, retrobulbular optic neuropathy, myelopathy or leukoencephalopathy associated to FA deficiency, above all in patients with a history of alcoholism.

[Aseptic meningitis caused by the rupture of an epidermoid cyst]. / Meningitis aséptica causada por la ruptura de quiste epidermoide.

INTRODUCTION: Epidermoid cysts are rare tumours. The aseptic meningitis that comes about as a result of their rupture is frequent after tumour resection, although they may occasionally occur spontaneously. CASE REPORT: A 36-year-old male who had been submitted to surgery twice because of an epidermoid cyst in the cerebellopontine angle presented a month old history of clinical features consisting in high temperature, headache, a stiff neck and ataxia. After computerized tomography (CT) scans and a spinal tap had been performed because of the suspicion of meningitis, empirical antibiotic therapy was administered but no improvement was observed. Thus, the usual studies employed to diagnose aseptic meningitis were carried out. Magnetic resonance imaging (MRI) was performed and showed lesions that suggested tumorous recurrence and perilesional meningeal hyperenhancement. Corticoid therapy quickly lessened the symptoms and the patient was asymptomatic when discharged. A week later he returned with headaches and disorders affecting behaviour and memory. A CT scan was performed and revealed the presence of tetraventricular hydrocephalus, which required the introduction of ventriculoperitoneal drainage. Spinal MRI carried out two weeks later revealed perimedullar foci of hyperenhancement. CONCLUSIONS: We describe the case of a patient with aseptic meningitis brought on by the rupture of an epidermoid cyst, which followed a subacute course and responded to corticoid therapy in a spectacular manner. Nevertheless, the patient still went on to develop tetraventricular hydrocephalus. Spontaneous aseptic meningitis is rare and corticoids lower its development time, but hydrocephalus may occur as a complication due to upsets in the reabsorption of cerebrospinal fluid.

Prevalence of herpesvirus DNA in MS patients and healthy blood donors.

OBJECTIVES: The aim of this study is to determine the DNA prevalence of different members of Herpesviridae in multiple sclerosis (MS) patients and to describe the possible effect of beta-interferon treatment on such prevalence. MATERIAL AND METHODS: With a nested polymerase chain reaction (PCR) assay we have studied the DNA of the peripheral blood mononuclear cells (PBMCs) of 204 whole blood samples, [102 from patients with relapsing-remitting MS (RRMS), of which 62 were treated with beta-interferon, and 102 from healthy blood donors]. RESULTS: We only found a statistically significant difference for human herpesvirus type 6 (HHV-6) DNA prevalence (P < 0.0001): HHV-6 is 2.26 times more frequent in MS patients than in healthy donors. There was no difference in the HHV-6 prevalence between beta-interferon treated and untreated patients. CONCLUSION: 1. Among the herpesviruses, HHV-6 was the only one showing altered prevalence. This either indicates that HHV-6 is involved in the pathogenesis of MS, or it simply indicates that MS influences latency or reactivation of HHV-6 without any direct involvement of HHV-6 in the disease process of MS. 2. Treatment with beta-interferon does not make a difference on the DNA prevalence of the herpesviruses studied in our MS patients.

[Detection of viral genomes of the Herpesviridae family in multiple sclerosis patients by means of the polymerase chain reaction (PCR)]. / Determinación de genomas de virus de la familia Herpesviridae en enfermos de esclerosis múltiple, por la reacción en cadena de la polimerasa (PCR).

BACKGROUND: The multiple sclerosis seems to be the junction between genetics alteration and an unknown environmental factor, that they would originate an autoimmune alteration, that they would be the reason of the inflammation and demyelinization responsible of the disease. Our objective has been the determination of this possible environmental factor and to reach it, we have studied the appearance of Herpesviridae family viruses. MATERIALS AND METHODS: 204 blood samples were studied: 102 from relapsing-remitting multiple sclerosis patients (43 were undergoing beta-interferon treatment), and 102 from blood donors with the same age and sex than multiple sclerosis patients. From this samples, we extracted the DNA of peripheral blood mononuclear cells (PBMCs), and we analyzed by polymerase chain reaction (PCR) to detect the appearance of herpes simplex virus, varicella zoster virus, Epstein-Barr virus, cytomegalovirus, human herpesvirus 6 (HHV-6), human herpesvirus 7 and human herpesvirus 8. RESULTS: a) we only found significative difference (p = 0.0001) in HHV-6: 21.5% donors positive samples (22/102), opposite to 49.02% of positivity in mulytiple sclerosis patients (50/102); b) we didn't found significative differences in none of other viruses studied, between patients treated with beta-interferon and non-treated ones. CONCLUSIONS: Our results suggest us that HHV-6 can play an important role in the multiple sclerosis development. The beta-interferon treatment doesn't affect to DNA prevalence of none of studied viruses.

[Clinical aspects of mitochondrial diseases]. / Aspectos clínicos de las enfermedades mitocondriales.

Mitochondrial disorders are multisystemic diseases with very heterogeneous clinical manifestations. A same genetic mutation can result in distinctive clinical phenotypes and, on the other hand, distinct mutations can result in the same clinical phenotype. This article review the manifestations of the diverse clinical syndromes, their relationship with the molecular defects, and the diagnostic protocol in the investigation of a suspected mitochondrial disorder.

[Oculocerebral syndrome: an infrequent pathological manifestation of carotid occlusion]. / Síndrome oculocerebral: manifestación poco frecuente de patología obstructiva carotídea.

INTRODUCTION: The simultaneous occurrence of impaired visual and ipsilateral hemisphere symptoms is uncommon. It is associated with carotid pathology. CLINICAL CASES: We present three cases under the name of oculocerebral syndrome, in which there were symptoms of monocular ischemia and ipsilateral cerebral ischemia. In two of these cases the monocular vision loss was transient, and in the third case it was permanent due to occlusion of the central retinal artery. In all three cases there was evidence of obstruction of the internal carotid artery. CONCLUSION: The pathological process involved may be mixed, embolic-hemodynamic.