Anisocoria cotidiana: epidemiología de la anisocoria en un centro de nivel secundario / Everyday anisocoria: anisocoria epidemiology in a secondary care setting

Objetivo: Determinar la importancia relativa de las distintas formas de anisocoria en un centro sanitario de nivel secundario. Métodos: Estudio prospectivo longitudinal, incluyendo todos los pacientes remitidos por este motivo a la consulta de Neuroftalmología del Hospital Universitario del Henares, Madrid, España, desde noviembre de 2008 hasta octubre de 2011. Se estudiaron las diferencias en el diámetro pupilar en condiciones de alta y baja luminosidad. Los pacientes fueron sometidos a una exploración oftalmológica completa, y a las pruebas de apraclonidina, cocaína, pilocarpina 0,125% y pilocarpina 2% en caso de considerarse necesario. Resultados: Treinta y dos casos de anisocoria fueron referidos durante estos 3 años. No se encontró asociación con la edad ni el sexo. Los diagnósticos fueron: pupila de Adie, 4 casos; síndrome de Horner, 5 casos; midriasis unilateral episódica benigna, 3 casos; causas locales, 4 casos; anisocoria fisiológica, 5 casos. A pesar de una completa historia clínica y exploración, la causa de la anisocoria no se pudo determinar en 11 casos. En 4 de estos casos el paciente padecía migrañas y en otros 4 consumía psicofármacos. En 3 casos ambos factores de riesgo estaban presentes. En un caso la anisocoria fue la pista inicial que llevó al diagnóstico de un paraganglioma cervical. Conclusiones: La anisocoria es un signo clínico que no traduce habitualmente enfermedad grave. Con nuestros protocolos, un número alto de los casos de anisocoria queda sin filiar. La migraña y los psicofármacos podrían estar asociados a estas formas de anisocoria(AU)

Objetive: To determine the relative importance of the different forms of anisocoria in a General Hospital. Methods: A prospective, longitudinal study was conducted including all patients referred for this reason to the Neuro-Ophthalmology Unit of the Henares University Hospital, Madrid (Spain), from November 2008 to October 2011. The differences in pupil diameter were studied under high and low luminosity. The patients were given a full ophthalmological examination, as well as performing the apraclonidine, cocaine, pilocarpine 0.125% and pilocarpine 2% tests, if they were considered necessary. Results: Thirty-two cases of anisocoria were referred during the three years of the study. No relationship was found with age or gender. The diagnostic results were: Adie's pupil, 4 cases; Horner syndrome, 5 cases; benign episodic unilateral mydriasis, 3 cases; local causes, 4 cases; physiological anisocoria, 5 cases. Despite a full clinical history and examination, the cause of the anisocoria could not be determined in 11 cases. In 4 of these cases, the patient suffered from migraines and in another 4 psychotropic drugs were taken. Both risk factors were present in 3 cases. In one case the anisocoria was the initial clue that led to the diagnosis of a cervical paraganglioma. Conclusions: Anisocoria is a clinical sign that does not usually signify a serious disease. With our protocols, a high number of anisocoria cases are still of unknown origin. Migraines and psychotropic drugs could be linked to these forms of anisocoria(AU)

[Everyday anisocoria: anisocoria epidemiology in a secondary care setting]. / Anisocoria cotidiana: epidemiología de la anisocoria en un centro de nivel secundario.

OBJECTIVE: [corrected] To determine the relative importance of the different forms of anisocoria in a General Hospital. METHODS: A prospective, longitudinal study was conducted including all patients referred for this reason to the Neuro-Ophthalmology Unit of the Henares University Hospital, Madrid (Spain), from November 2008 to October 2011. The differences in pupil diameter were studied under high and low luminosity. The patients were given a full ophthalmological examination, as well as performing the apraclonidine, cocaine, pilocarpine 0.125% and pilocarpine 2% tests, if they were considered necessary. RESULTS: Thirty-two cases of anisocoria were referred during the three years of the study. No relationship was found with age or gender. The diagnostic results were: Adie's pupil, 4 cases; Horner syndrome, 5 cases; benign episodic unilateral mydriasis, 3 cases; local causes, 4 cases; physiological anisocoria, 5 cases. Despite a full clinical history and examination, the cause of the anisocoria could not be determined in 11 cases. In 4 of these cases, the patient suffered from migraines and in another 4 psychotropic drugs were taken. Both risk factors were present in 3 cases. In one case the anisocoria was the initial clue that led to the diagnosis of a cervical paraganglioma. CONCLUSIONS: Anisocoria is a clinical sign that does not usually signify a serious disease. With our protocols, a high number of anisocoria cases are still of unknown origin. Migraines and psychotropic drugs could be linked to these forms of anisocoria.

Utilidad de los niveles de colestanol en el diagnóstico y seguimiento de los pacientes con xantomatosis cerebrotendinosa / Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis

Introducción: la xantomatosis cerebro-tendinosa (XCT) es una enfermedad autosómica recesiva producida por un déficit de la enzima 27-hidroxilasa. Como consecuencia, existe una deficiencia de ácido quenodeoxicólico y una sobreproducción de colestanol que se deposita en los tejidos. Clínicamente cursa con cataratas, diarrea, xantomas y diferentes síntomas neurológicos. A pesar de que los niveles de colestanol se emplean en el diagnóstico de la XCT, se desconoce su correlación con la clínica y el pronóstico. Métodos: se han revisado 14 pacientes afectos de XCT, diagnosticados entre 1995 y 2008 en dos centros de referencia para el diagnóstico genético, en los que se había determinado el colestanol. Se han estudiado los principales datos demográficos, clínicos y terapéuticos y su posible relación con los niveles de colestanol. Resultados: la media de los niveles de colestanol al diagnóstico fue de 106μmol/ l. No se encontró ninguna relación entre el colestanol plasmático y los diferentes síntomas neurológicos, ni con el grado de discapacidad al diagnóstico medido mediante la EDSS. Tras la instauración del tratamiento se obtuvo una reducción significativa del colestanol plasmático en todos los casos (reducción media de 91μmol/ l en una media de 34 meses), a pesar de lo cual sólo un paciente se estabilizó clínicamente. Conclusiones: la presencia de niveles elevados de colestanol es muy útil para el diagnóstico de la XCT, pero no tiene valor pronóstico (no se correlaciona con la situación funcional). Su normalización no siempre se acompaña de una estabilización clínica, pero su monitorización puede ser útil para el ajuste del tratamiento (AU)

Introduction: cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by a deficiency of mitochondrial enzyme sterol 27-hydrolylase. Such a deficiency results in a reduced production of chenodeoxycholic acid and in an increased formation of cholestanol. It is clinically characterized by cataracts, diarrhoea, xanthomas, premature arteriosclerosis and a number of progressive neurological symptoms. Although cholestanol levels are used for the diagnosis of CTX, their correlation with the clinical symptoms and their prognostic usefulness have not been assessed so far. Methods: we reviewed 14 CTX patients diagnosed between 1995 and 2008 in two reference centres for the genetic diagnosis of this disorder, whose cholestanol levels had been recorded. We studied the main demographic, clinical and therapeutical data and their correlation with plasma cholestanol levels. Results: the average cholestanol level at diagnosis was 105.8μmol/l. These levels did not correlate with any neurological symptoms or with disability at diagnosis scored by the EDSS. After treatment, all patients achieved a significant reduction in plasma cholestanol levels (average reduction of 91μmol/l in an average follow-up of 34 months), although only one patient remained clinically stable. Conclusions: high cholestanol levels are very useful for diagnosis of CTX but they do not have a prognostic value (they do not correlate with severity). Normalisation of cholestanol levels is not always associated with clinical stabilisation. However, follow-up of cholestanol levels can be useful for the dose adjustment (AU)

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.

BACKGROUND AND PURPOSE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene resulting in sterol-27-hydroxylase deficiency. Current information about CTX is based mainly on case reports, with only few large series reported. Although perceived as a potentially treatable condition, efficacy of chenodeoxycholic acid plus statin therapy remains unclear. To perform a nationwide survey of confirmed cases, with a thorough analysis of genotype-phenotype data and prognostic factors. METHODS: Retrospective review of the clinical and epidemiological aspects and mutations of all the patients diagnosed since 1992 in the main reference centers for genetic testing of CTX in Spain. RESULTS: Twenty-five patients from 19 families were identified. An average delay of 19 years was observed between symptom onset and clinical diagnosis. Two main clinical subgroups were recognizable: a classic form (cerebellar and other supratentorial symptoms) and a spinal form (chronic myelopathy). Cholestanol levels did not correlate with clinical presentation, severity or response to therapy. Despite treatment, five patients died during follow-up, one to 4 years after diagnosis. Thirteen different mutations were identified, with a higher frequency of p.R395C in Northwestern Spain and p.R405W in Southern Spain. None of the mutations could be associated with a particular clinical feature combination or prognosis. CONCLUSIONS: This is the first nationwide extensive series of CTX reported in Spain. The higher number of cases in some areas suggests a possible founder effect. Spinal forms had a less severe prognosis. A delayed diagnosis could contribute to the lack of significant response to treatment.

[Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis]. / Utilidad de los niveles de colestanol en el diagnóstico y seguimiento de los pacientes con xantomatosis cerebrotendinosa.

INTRODUCTION: cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by a deficiency of mitochondrial enzyme sterol 27-hydrolylase. Such a deficiency results in a reduced production of chenodeoxycholic acid and in an increased formation of cholestanol. It is clinically characterized by cataracts, diarrhoea, xanthomas, premature arteriosclerosis and a number of progressive neurological symptoms. Although cholestanol levels are used for the diagnosis of CTX, their correlation with the clinical symptoms and their prognostic usefulness have not been assessed so far. METHODS: we reviewed 14 CTX patients diagnosed between 1995 and 2008 in two reference centres for the genetic diagnosis of this disorder, whose cholestanol levels had been recorded. We studied the main demographic, clinical and therapeutical data and their correlation with plasma cholestanol levels. RESULTS: the average cholestanol level at diagnosis was 105.8 µmol/l. These levels did not correlate with any neurological symptoms or with disability at diagnosis scored by the EDSS. After treatment, all patients achieved a significant reduction in plasma cholestanol levels (average reduction of 91 µmol/l in an average follow-up of 34 months), although only one patient remained clinically stable. CONCLUSIONS: high cholestanol levels are very useful for diagnosis of CTX but they do not have a prognostic value (they do not correlate with severity). Normalisation of cholestanol levels is not always associated with clinical stabilisation. However, follow-up of cholestanol levels can be useful for the dose adjustment.

Impairment of rapid repetitive finger movements and visual reaction time in patients with essential tremor.

BACKGROUND AND PURPOSE: The question whether patients with essential tremor (ET) have slowed movements as part of their clinical manifestations is still a matter of controversy. We analyzed basic motor function in patients with ET and in healthy matched controls. METHODS: We studied 61 patients with ET and 122 age- and sex-matched controls. Evaluation included four timed tests (pronation-supination, finger tapping and movement between two points, all with both hands, and walking test); and three tests performed on a personal computer (speed for pressing repetitively a key - frequency, visual reaction time and movement time, all with both hands). RESULTS: Essential tremor patients showed higher mean values for right and left finger tapping, left movement between two points; and with right and left frequency and reaction time. In the logistic regression study, ET patients showed significantly higher values than controls for right and left finger tapping; mean, SD, maximum and rank values of right and left frequency; and mean, SD, minimum, maximum and rank values of right and left visual reaction time. Tremor severity was not correlated with the altered values. CONCLUSIONS: Patients with ET showed impaired motor performance, at least in some tasks, such as rapid repetitive finger movements (finger tapping and frequency) and visual reaction time (impairment was not related with tremor severity). This probably means that patients with ET have some degree of bradykinesia.

[Migraineous anterior optic ischemic neuropathy]. / Neuropatía óptica isquémica anterior migrañosa.

CASE REPORT: We report the case of a 22-year-old man who presented with headache and blurred vision which had started four days previous. A periventricular lesion was found in the magnetic resonance imaging. The patient was diagnosed with demyelinating neuritis and treated with intravenous methylprednisolone. DISCUSSION: After six months visual function had not improved, so the initial diagnosis was probably erroneous. It is likely that the patient suffered from migraineous optic ischemic neuropathy. In this paper we review the scarce literature about this topic, and the role of migraine as a cardiovascular risk factor.

Neuropatía óptica isquémica anterior migrañosa / Migraineous anterior optic ischemic neuropathy

Caso clínico: Se presenta el caso de un pacientevarón de 22 años de edad que acudió refiriendovisión borrosa y cefalea de cuatro días de evolución.Fue diagnosticado inicialmente de neuritis ópticadesmielinizante ante el hallazgo en la resonanciamagnética de una lesión periventricular, y tratadocon metilprednisolona intravenosa.Discusión: Ante la ausencia de mejoría de la funciónvisual tras seis meses de evolución, es probableque el diagnóstico inicial fuera erróneo y que elpaciente sufriera un cuadro de neuropatía ópticaisquémica anterior migrañosa. Se revisa la escasaliteratura publicada en relación con este tema y elpapel de la migraña como factor de riesgo cardiovascular(AU)

Case report: We report the case of a 22-year-oldman who presented with headache and blurredvision which had started four days previous. A periventricularlesion was found in the magnetic resonanceimaging. The patient was diagnosed withdemyelinating neuritis and treated with intravenousmethylprednisolone.Discusion: After six months visual function had notimproved, so the initial diagnosis was probably erroneous.It is likely that the patient suffered frommigraineous optic ischemic neuropathy. In this paperwe review the scarce literature about this topic, andthe role of migraine as a cardiovascular risk factor(AU)

Cerebrotendinous xanthomatosis: neuropathological findings.

Cerebrotendinous xanthomatosis is an inherited autosomal recessive lipid storage disease caused by a 27-hydroxylase enzyme deficiency, characterised clinically by tendon xanthomas, premature cataracts, chronic diarrhoea and progressive neurologic dysfunction. The disease is very uncommon and there are very few pathological descriptions. We report a 52-year-old male who presented with a neuropsychiatric disorder and cognitive decline. Despite treatment the patient developed optic atrophy, parkinsonism and dementia and died. The autopsy revealed a nonspecific brain and cerebellar atrophy. Under microscopic examination, lipid crystal clefts, neuronal loss, demyelination, reactive astrocytosis and perivascular macrophages were found. These findings suggest the limited reversibility of the disease, and its poor prognosis, specially if treatment is not started early.

Hematoma espinal masivo espontáneo / Massive spinal epidural hematoma

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[Tethered cord syndrome in the adult]. / Síndrome de médula anclada en el adulto.

INTRODUCTION: The tethered cord syndrome (TCS) is a congenital malformation with a pathologic fixation of the spinal cord in the spinal canal. It presents clinically as musculoskeletal, cutaneous, urological and neurological manifestations. The diagnosis is based on the clinical manifestations and on the MRI (Magnetic Resonance Imaging) of the lumbar spine. It is usually diagnosed in childhood, but the symptoms can appear in adult life. METHOD: We reviewed all the cases of TCS in the adult diagnosed in our hospital between 1998 and 2005. The following parameters were evaluated: mean age at onset, initial symptoms, signs, MRI findings and outcome. RESULTS: Four 22 to 72 year old patients were diagnosed. The age at onset varied from 16 to 52 years old and the diagnosis took between 2 and 20 years to be established. The most frequent initial symptoms were the muscular atrophy and the motor weakness in the lower extremities. Two patients exhibited cutaneous stigmata (one had hypertrichosis and the other one a lipoma in the sacrum area) and one a partial agenesis of the sacrum. The most frequent MRI finding was a low lying cord with a lipoma in the sacrum area. In three patients the cord was detethered surgically, but only two of them improved. CONCLUSIONS: The TCS is an uncommon disease in adult, which is usually diagnosed very late in the adult. Because of its insidious and non specific symptomatology, and of its potential surgical treatment, it should be considered in the differential diagnosis of medullar syndromes and polyneuropathies.

Síndrome de médula anclada en el adulto / Tethered cord syndrome in the adult

Introducción. El síndrome de médula anclada (SMA) es una malformación congénita en la que se produce una fijación de la médula dentro del canal espinal. Clínicamente se caracteriza por afectación musculoesquelética, cutánea, neurológica y urológica. El diagnóstico se basa en la clínica y en la resonancia magnética (RM) lumbar. Suele diagnosticarse en la infancia, aunque algunos pacientes inician los síntomas en la edad adulta. Método. Hemos revisado todos los casos de SMA en el adulto diagnosticados en nuestro hospital entre 1998 y 2005. Estudiamos la edad media de presentación, los síntomas iniciales, la exploración física, los hallazgos radiológicos y la evolución. Resultados. Cuatro pacientes, entre 22 y 72 años, fueron diagnosticados de SMA. La edad de inicio de los síntomas variaba entre 16 y 52 años y el diagnóstico se demoró entre 2 y 20 años. Las manifestaciones iniciales más frecuentes fueron la atrofia muscular y la pérdida de fuerza en miembros inferiores. Dos pacientes asociaban estigmas cutáneos (uno hipertricosis sacra y otro lipoma sacro) y uno agenesia atípica del sacro. En la RM el hallazgo más frecuente fue la presencia de un cono medular descendido y de un lipoma en el canal sacro. Tres pacientes fueron intervenidos, con mejoría posterior en dos de ellos. Conclusiones. El SMA es una enfermedad poco frecuente y de diagnóstico muy tardío en el adulto. Por su sintomatología insidiosa e inespecífica hay que considerarlo en el diagnóstico diferencial de los síndromes medulares y de las polineuropatías dada su potencial reparación quirúrgica

Introduction. The tethered cord syndrome (TCS) is a congenital malformation with a pathologic fixation of the spinal cord in the spinal canal. It presents clinically as musculoskeletal, cutaneous, urological and neurological manifestations. The diagnosis is based on the clinical manifestations and on the MRI (Magnetic Resonance Imaging) of the lumbar spine. It is usually diagnosed in childhood, but the symptoms can appear in adult life. Method. We reviewed all the cases of TCS in the adult diagnosed in our hospital between 1998 and 2005. The following parameters were evaluated: mean age at onset, initial symptoms, signs, MRI findings and outcome. Results. Four 22 to 72 year old patients were diagnosed. The age at onset varied from 16 to 52 years old and the diagnosis took between 2 and 20 years to be established. The most frequent initial symptoms were the muscular atrophy and the motor weakness in the lower extremities. Two patients exhibited cutaneous stigmata (one had hypertrichosis and the other one a lipoma in the sacrum area) and one a partial agenesis of the sacrum. The most frequent MRI finding was a low lying cord with a lipoma in the sacrum area. In three patients the cord was detethered surgically, but only two of them improved. Conclusions. The TCS is an uncommon disease in adult, which is usually diagnosed very late in the adult. Because of its insidious and non specific symptomatology, and of its potential surgical treatment, it should be considered in the differential diagnosis of medullar syndromes and polyneuropathies

Actualización del tratamiento de los gliomas / Glioma therapy up-date

El pronóstico de los pacientes con tumores cerebrales malignos siempre ha sido sombrío y hasta hace relativamente poco la quimioterapia no había demostrado ninguna eficacia. La temozolomida es un nuevo fármaco alquilante de segunda generación que ha demostrado eficacia en el tratamiento de los gliomas de alto grado. Los pacientes suelen tolerarlo bien y tiene unas propiedades farmacodinámicas y farmacocinéticas favorables. En los pacientes con glioblastoma multiforme la radioterapia asociada a temozolomida como tratamiento concomitante y adyuvante mejora la supervivencia global de forma significativa con respecto a la radioterapia aislada. Este beneficio es mayor en los pacientes cuyo tumor presenta el promotor del gen 06-metilguanina ADN metiltransferasa metilado, lo cual incapacita a las células neoplásicas para reparar el ADN dañado por la quimioterapia. Este artículo revisa brevemente el diagnóstico y tratamiento de los pacientes con tumores cerebrales malignos y posteriormente se centra en el papel de la temozolomida en el tratamiento de los gliomas

The prognosis for patients with malignant brain tumors has always been poor and until recently chemotherapy had not shown to be very effective. Temozolomide is a novel second-generation alkylating agent that has shown efficacy for the treatment of high-grade gliomas. Temozolomide is well-tolerated by most patients and has favorable pharmacodynamic and pharmacokinetic properties. In patients with newly diagnosed glioblastoma multiforme, radiation therapy with concurrent and adjuvant temozolomide significantly improves orverall survival compared to treatment with only radiation. The benefit of temozolomide is greatest in patients with tumors that have a methylated 06-methyl-guanine DNA methyl transferase gene promoter that results in decreased repair of temozolomide-induced DNA damage. This chapter will briefly review the diagnosis and treatment of patients with malignant brain tumors and then will focus on the role of temozolomide in glioma therapy

Tratamiento endovascular del síndrome del robo de la subclavia sintomático / Endovascular treatment of symptomatic subclavian steal syndrome

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