Ataxia y nistagmo de origen infrecuente / Ataxia and nystagmus of unusual origin

No disponible

Atrofia muscular peroneal secundaria a hernia discal dorsal / Peroneal muscular atrophy secondary to a herniated dorsal disc

No disponible

No disponible

[Headache and fainting as initial symptoms of syringomyelia associated to Arnold-Chiari and facial angiomatous nevus]. / Cefalea y síncope como manifestaciones iniciales de siringomielia asociada a Arnold-Chiari y nevo angiomatoso facial.

INTRODUCTION: Syringomyelia and Arnold-Chiari malformation are two dysraphism that often appear together. Clinical manifestations are diverse although some patients remain asymptomatic for years. Syncope, supposedly due to a dysfunction of medulla baroceptors and spinal cord intermediolateral horn, is uncommon, particularly as the initial symptom. CASE REPORT: 34 year old woman, with a facial angiomatous nevus, presented with two episodes of headache followed by syncope; neurological examination was apparently normal. MRI showed mild supratentorial hydrocephalus, Arnold-Chiari malformation and cervical syringomyelia, with no vascular anomalies. CONCLUSION: This case, which shares some features with Sturge-Weber syndrome and PHACE syndrome, enhances the importance of the search for anomalies in patients with paroxistical symptoms and cutaneous lesions.

Cefalea y síncope como manifestaciones iniciales de siringomielia asociada a Arnold-Chiari y nevo angiomatoso facial / Headache and fainting as initial symptoms of syringomyelia associated to arnold-chiari and facial angiomatous nevus

Introducción. La siringomielia y la malformación de Arnold-Chiari son dos malformaciones disráficas que frecuentemente se presentan asociadas; sus manifestaciones clínicas son muy variadas y algunos pacientes permanecen asintomáticos durante años. El síncope, atribuido a una disfunción de los baroceptores bulbares y del asta intermediolateral medular es una manifestación paroxística poco habitual, especialmente como forma de inicio. Caso clínico. Una mujer de 34 años, portadora de un nevo angiomatoso facial, consultó por presentar dos episodios de cefalea y síncope. La exploración neurológica resultó normal. El estudio de resonancia magnética demostró una moderada hidrocefalia supratentorial, malformación de Arnold-Chiari y siringomielia cervical, sin observarse alteraciones vasculares. Conclusión. Este caso, que comparte algunas características del síndrome de Sturge-Weber y el síndrome PHACE, es un ejemplo de la importancia de investigar alteraciones del sistema nervioso central en pacientes con síntomas paroxísticos y alteraciones cutáneas (AU)

Introduction. Syringomyelia and Arnold-Chiari malformation are two dysraphism that often appear together. Clinical manifestations are diverse although some patients remain asymptomatic for years. Syncope, supposedly due to a dysfunction of medulla baroceptors and spinal cord intermediolateral horn, is uncommon, particularly as the initial symptom. Case report. 34 year old woman, with a facial angiomatous nevus, presented with two episodes of headache followed by syncope; neurological examination was apparently normal. MRI showed mild supratentorial hydrocephalus, Arnold-Chiari malformation and cervical syringomyelia, with no vascular anomalies. Conclusion. This case, which shares some features with Sturge-Weber syndrome and PHACE syndrome, enhances the importance of the search for anomalies in patients with paroxistical symptoms and cutaneous lesions (AU)

[Rapidly progressing dementia as the presenting symptom of Waldenstrom's macroglobulinemia: findings from magnetic resonance imaging of the brain in Bing Neel syndrome]. / Demencia rapidamente progresiva como presentacion de macroglobulinemia de Waldenstrom: hallazgos de la resonancia magnetica cerebral en el sindrome de Bing Neel.

CASE REPORT: A 68 year old male with no relevant clinical history was admitted to hospital because of symptoms of cognitive impairment (attentional deficit, short term memory disorders and behavioural disorders), accompanied by apraxia of gait and rectal and urinary incontinence. Results of a general clinical exploration were normal. In the MRI study of the brain numerous areas of hypersignal were observed in different arterial territories, which stood out in the T2, FLAIR and, above all, in diffusion weighted sequences. Analytical studies showed hypergammaglobulinemia with monoclonal IgM k and a bone marrow biopsy revealed infiltration by plasmatic cells. Bing Neel syndrome was diagnosed. CONCLUSIONS: We underline this exceptional form of presentation of Waldenstrom's macroglobulinemia and highlight the findings of diffusion weighted MRI, which suggested multiple infarcts for which a neoplastic vascular obstruction mechanism similar to that involved in malignant angioendotheliomatosis is posited.

[Kleine-Levin syndrome: contribution of brain SPECT in diagnosis]. / Sindrome de Kleine-Levin: aportación diagnóstica de la SPECT cerebral.

INTRODUCTION: Kleine Levin syndrome is an infrequent disorder of uncertain aetiopathogenesis that usually affects adolescent males, producing drowsiness and alterations in behaviour, appetite and sexuality. We report a clinically typical case in which the brain SPECT showed right frontal hypoperfusion. CASE REPORT: Male aged 17, right handed, who presented drowsiness, apathy, alterations in his sexual behaviour (masturbations in public and attempted assault of women) and hyperphagia, which coincided with his undergoing an emotionally stressful period in his life. Brain SPECT revealed reduced flow in the right frontal lobe, although MRI and CSF study were normal. The polysomnographic study revealed a destructured pattern of sleep, with a reduction in phases III and IV and in REM sleep. He was treated with lithium and evolved favourably without any relapses during the 18 month follow up. CONCLUSIONS: Cases of Kleine Levin syndrome with structural lesions have been reported, but most of them are idiopathic. A disorder in the hypothalamus and the limbic system is suggested. In our case, the findings from the brain SPECT confirmed a non dominant hypoperfusion of the frontal lobe, which could result from a phenomenon of diaschisis brought about by a diencephalic dysfunction.

Síndrome de Kleine-Levin:aportación diagnóstica de la SPECT cerebral / Kleine-Levin syndrome: contribution of brain SPECT in diagnosis

Introducción. El síndrome de Kleine-Levin es un trastorno infrecuente, de etiopatogenia no aclarada, que suele afectar a adolescentes varones, produciendo somnolencia y alteraciones del comportamiento, del apetito y de la sexualidad. Se presenta un caso con curso clínico típico, en el que la tomografía estandarizada por emisión de fotón único (SPECT) cerebral mostró una hipoperfusión frontal derecha. Caso clínico. Un varón de 17 años, diestro, que coincidía con una situación de estrés emocional, presentó somnolencia, apatía, alteración del comportamiento sexual (masturbaciones públicas e intentos de agresión a personal femenino) e hiperfagia. El estudio de SPECT cerebral mostró una disminución del flujo en el lóbulo frontal derecho, mientras que la resonancia magnética (RM) y el estudio del líquido cefalorraquídeo resultaron normales. El estudio polisomnográfico mostró una desestructuración del sueño, con una reducción de las fases III y IV y del sueño REM. Se trató con litio y evolucionó favorablemente, sin recidiva en 18 meses de seguimiento. Conclusiones. Se han descrito casos de síndrome de Kleine-Levin con lesiones estructurales encefálicas, pero la mayoría son idiopáticos. Se postula una disfunción hipotalámica y del sistema límbico. Los hallazgos del SPECT cerebral de nuestro caso confirmaron una hipoperfusión del lóbulo frontal no dominante, que podría traducir un fenómeno de diasquisis, propiciado por una disfunción diencefálica (AU)

[Simultaneous meningitis caused by Candida and tuberculosis as manifestation of AIDS]. / Meningitis simultánea por candida y tuberculosis como debut de SIDA.

Opportunistic germs meningoencephalitis plays an important role within neurologic pathology in aids. Treponema pallidum and Mycobacterium tuberculosis among bacteries, Cryptococcus neoformans in fungus group, Toxoplasma gondii in protozoos group and Papovavirus JC in virus one are the most frequently implicated germs. Sometimes infections are mixed. We present a simultaneous meningitis case produced by Candida albicans and Mycobacterium tuberculosis that coursed with neutrophilic pleocytosis in CSF and normal glucose CSF levels, consisting the clinical debut of aids. Repeated CSF examinations are the diagnostic clue owing, as in our case, instauration of early treatment. Present case of simultaneous tuberculous and candidiasic meningitis is the first one described in a HIV positive patient.

Meningitis simultánea por Candida y tuberculosis como debut de / SImultaneous meningitis caused by Candida and tuber culosis as AIDS manifestation

Las meningoencefalitis por gérmenes oportunistas ocupan un lugar importante dentro de la patología neurológica del sida. Treponema palli dum y Mycobacterium tuberculosis dentro de las baceterias, Crytptococ cus neoformans dentro de los hongos, Toxoplasma gondii dentro de los protozoos y el Papovavirus JC dentro de los virus, son los gérmenes más frecuentes dentro de cada grupo. Con cierta frecuencia las infecciones son mixtas, tal como ocurrió en el caso que se presenta de meningitis simultánea por Candida albicans y Mycobacterium tuberculosis, que cursó con pleocitosis neutrófila y normoglucorraquia, constituyendo la primera manifestación de un sida. El estudio secuencial del LCR es clave para el diagnóstico de estos casos, que, pese a su gravedad, pueden tener un tratamiento efectivo, tal como ocurrió en el que se describe. Es el primer caso descrito de meningitis simultánea candidiásica y tuberculosa en paciente portador de VIH (AU)

[Autosomal recessive chorea-acanthocytosis linked to 9q21]. / Corea-acantocitosis autosómica recesiva ligada a 9q21.

A 34-year-old male, son of consanguineous parents, had a progressive neurological illness characterized by seizures, tics, choreic movements and mood changes. Acanthocytosis was present in blood. The level of creatine kinase was elevated. Normobetalipoproteinemia was noted. No KX group changes of McLeod syndrome were found. Serial neuroimaging studies demonstrated progressive caudate atrophy. Muscular biopsy confirmed the existence of non-specific myopathy. Genetic study demonstrated homozigosity for the 9q21 region.

Corea-acantocitosis autosómica recesiva ligada a 9q21 / Autosomal recesive chorea-acanthocytosis linked to 9q21

Un varón de 34 años, hijo de padres consanguíneos, desarrolló una afección neurológica progresiva, caracterizada por convulsiones y posteriormente tics, movimientos coreicos y cambio del carácter. En el estudio de frotis sanguíneo se observó acantocitosis. Había elevación de la CK, pero no alteraciones en el lípidograma ni hallazgos en el grupo KX característicos del síndrome de McLeod. Los estudios consecutivos de neuroimagen evidenciaron atrofia progresiva y gliosis del núcleo caudado. Existían datos de miopatía inespecífica en la biopsia muscular. El estudio genético demostró homozigosidad en la región q21 del cromosoma 9 (AU)

[Intestinal and gastric cystoid pneumatosis associated with duodenal stenosis]. / Neumatosis cistoide intestinal y gástrica asociada a estenosis duodenal.

We present a case of pneumatosis cystoides of the stomach and intestine, secondary to peptic pyloric ulcer with duodenal stenosis. Clinical symptoms consisted of abdominal pain and intense vomiting; diagnosis was suspected in the radiologic examination of the abdomen (plain film), which showed and abnormal pattern of gas distribution, and later confirmed by barium contrast. The surgical correction of the underlying cause made the lesion disappear. We also review the etiology, pathogenesis, clinical manifestations, diagnosis and treatment of this rare condition.

[Clinical patterns of selective IgA deficiency: 3 case reports]. / Patrones clínicos del déficit selectivo de IgA: a propósito de tres casos.

The selective deficit of IgA is characterised by its clinical variability. This disease can be detected in non-symptomatic patients or associated to multiple diseases of different features. The allergic reactions, recurrent infections, gastrointestinal alterations, autoimmune diseases, and some neoplasias are the most frequent features of this deficit. We present 3 cases with different pathology associated to the common deficit of IgA, giving a view of the wide clinical spectrum of this process.

[Selective deficiency of IgA]. / Déficit selectivo de IgA.

The selective deficit of IgA is the most frequently acquired immunodeficiency. It is important because of this and the variability of the clinical presentation, which might be non-symptomatic or simply show several clinical features. The prognosis depends on the associated clinical affliction. There is no substitute treatment for this immunodeficiency, in which the immunoglobulins administration produces a paradoxical antibody formation against this, and adverse immunological reactions. We reviewed the immunodeficiency in this paper, highlighting the frequency, pathogenia, clinical diversity and therapy.

[Polyneuropathy associated with osteosclerotic myeloma. Excellent response to chemotherapy]. / Polineuropatía asociada a mieloma osteosclerótico. Excelente respuesta a la quimioterapia.

We report a 36-year-old patient with progressive tetraparesis and diffuse osteosclerotic lesions without secretion of a monoclonal component, in whom a diagnosis of non-secreting diffuse osteosclerotic myeloma with POEMS syndrome was made with open rib biopsy. We discuss the clinical, biological, radiological and electrophysiological features of this patient. We analyze the possible pathogenesis of his neurological involvement, with a detailed review of the relevant literature. Finally, we underline the therapeutic success with a combination of cyclophosphamide and prednisone, comparing it with the previous references to this therapeutic modality, and emphasize the validity of our therapeutic approach.

[Two cases of massive pulmonary embolism associated with estrogen intake. Diagnostic and therapeutic usefulness of pulmonary angiography]. / Dos casos de embolismo pulmonar masivo relacionados con ingesta de estrógenos. Utilidad diagnóstica y terapéutica de la angiografía pulmonar.

Two cases of massive pulmonary embolism observed in patients under estrogen therapy, are presented. We describe the clinical findings, highlighting the value of the arteriography in the diagnosis and the use of fibrinolytic therapy, being successful in both cases.

[A diffuse nonsecreting osteosclerotic myeloma with polyneuropathy, organomegalies, endocrinopathies and skin changes]. / Mieloma osteosclerótico difuso no secretante con polineuropatía, organomegalias, endocrinopatía y alteraciones cutáneas.

A patient admitted into hospital suffering from quadriparesis, secondary to distal symmetric sensitive and motor polyneuropathy, is presented. Diffuse osteosclerotic bone changes associated to neurological symptoms were detected and histologically confirmed as non-secreting plasmacytoma, on noting the non-production of paraprotein. Also, there were endocrine, skin and systemic alterations. We comment on the association of these changes as POEMS syndrome, discussing the pathogenesis and giving details of the treatment, emphasizing the excellent response.