Asymptomatic Severe Vagal and Sympathetic Cardiac Denervation in Holmes-Adie's Syndrome.

A 40-year-old woman was found to have bilateral Adie's pupils and generalized muscle stretch areflexia. She did not have orthostatic hypotension but, in an ECG strip in the office, she appeared to have an almost fixed heart rate. We thus studied the heart rate variability (HRV) and the systolic blood pressure variability (SBPV) in supine and standing position and also during rhythmic breathing. We found a decreased HRV in the time domain with very low standard deviation in supine and standing position and during rhythmic breathing. HRV in the frequency domain was low with a decrease in the absolute power of HF and LF and a decrease in the sympathovagal balance in supine and standing positions. SBPV in the time and frequency domains was found to be normal. This patient with Holmes-Adie syndrome had an asymptomatic severe loss of HRV and a preserved SBPV. The global decrease in the HRV in the time and frequency domains indicated that she had both vagal and sympathetic cardiac denervation, whereas the preserved SBPV suggested normal innervation of the blood vessels.

Subarachnoid hemorrhage as a complication of systemic lupus erythematosus.

BACKGROUND: Subarachnoid hemorrhage (SAH) is a rare complication of systemic lupus erythematosus (SLE). METHODS: We made a retrospective search for patients with SLE and nontraumatic SAH from 1990 to 2006. RESULTS: We found 10 patients with SLE and primary SAH of a total of 1,077 patients with SLE (0.93%); mean age of onset was 37.4 +/- 15.25 years and the mean duration of SLE at the onset of SAH was 98.3 +/- 50.32 months. SLEDAI and chronic damage scores were 3.67 +/- 5.20 (n = 9) and 2.90 +/- 1.45 (n = 10), respectively; 60% of patients had high Hunt-Hess scores and in only 50% of cases a saccular aneurysm was identified. CONCLUSIONS: SAH presents in about 1% of SLE patients. Long duration of SLE and chronic damage scores might be associated risk factors.

[The history of myasthenia gravis. Men and ideas.] / La historia de la miastenia gravis. Los hombres y las ideas.

The first description of a patient with myasthenia gravis was done by Thomas Willis (1621-1675). He was an eminent professor of natural history at Oxford University who also described the arteries of the brain and made the first precise drawings of it. At the present time myasthenia gravis is considered one of the most well described autoimmune diseases with great advances in its diagnosis, pathophysiology and treatment. In this review we summarize the most important events and ideas in the history of this disease since the original description by Willis; mention the most important clinicians, anatomists and physiologists that were concerned with its understanding and make reference of some the most recent advances in its diagnosis and treatment and finally discuss some present controversies. Neurología 2007;22(0):0-0.

Associated conditions in myasthenia gravis: response to thymectomy.

To compare the response of thymectomy in patients with associated conditions (PWAC) and without associated conditions (PWOAC). Comparative, retrospective. 198 patients with the established diagnosis of myasthenia gravis who had a thymectomy between 1987 and 2000, and who were folowed up for at least 3 years. We formed two groups, one with associated conditions and the second without associated conditions. The patients were divided into four groups: (i) patients in remission, (ii) patients with improvement, (iii) patients without changes, and (iv) patients whose condition worsened. Associated conditions (AC) were found in 49 patients (26%). The main associated conditions were hyperthyroidism in 16 patients (33%) hypothyroidism in seven (14%), rheumatoid arthritis in five (10%) and hypothyroidism and Sjogren syndrome in three (6%). Concerning the response of thymectomy, 13 patients WAC showed remission (27%), vs. 54 patients WOAC (39%). Twenty patients WAC showed improvement (41%) vs. 46 WOAC (33%). Thirteen patients WAC had no changes (27%) vs. 37 WOAC (26%). Finally, in three patients WAC their condition worsened (6%) vs. three WOAC (2%). The response to thymectomy was high (69%) in both groups. We did not identify significant differences.

Response of thymectomy: clinical and pathological characteristics among seronegative and seropositive myasthenia gravis patients.

OBJECTIVE: To identify the response to thymectomy in patients with seronegative and seropositive myasthenia gravis (SPMG). We analyzed the associated diseases, thymus histology, and the severity of symptoms between the two groups. MATERIAL AND METHODS - DESIGN: Descriptive, comparative. STUDY UNITS: Fourteen patients with seronegative myasthenia gravis (SNMG) and 57 patients with SPMG who had a thymectomy between 1987 and 1997, with at least 3 years of follow-up. The patients were divided into four groups; (1) Remission, (2) Improvement, (3) No change and (4) Deterioration. RESULTS: Fourteen patients (20%) were seronegative and 57 were seropositive (80%). In the group of patients with SNMG, three patients were in remission (21%), five with improvement (36%), five with no change (36%) and one with worsening (7%). In the group of patients with SPMG, 12 were in remission (21%), 17 with improvement (30%), 25 with no change (44%) and three (5%) with worsening. The patients with SNMG were older, with less associated diseases and with a lower frequency of thymomas. CONCLUSIONS: The response to thymectomy was similar between the two groups. It has been suggested that seronegative patients have a better prognosis, but our results show no differences.

HLA class II genotypes in Mexican Mestizo patients with myasthenia gravis.

Myasthenia gravis is an autoimmune, heterogeneous disorder, characterized by the presence of antibodies against acetylcholine receptors at the neuromuscular junction. There is a strong evidence that an individual's genetic composition is an important predisposing factor for the development of the disease. To correlate HLA class II genotypes with thymic pathology in Mexican Mestizo patients who had been subjected to thymectomy. HLA class II genes were analyzed in 60 patients and in 99 healthy ethnically matched controls. Thymic hyperplasia, atrophy, thymoma, and normal histology were encountered in 56, 33, 8 and 2% of patients, respectively. HLA-DR11 was significantly increased in patients with thymoma compared with healthy controls (pC = 0.001, OR = 13.35, 95% CI 3.5-51.3), compared with the subgroup of hyperplasia patients (pC = 0.005, OR = 15.5, 95% CI 2.78-95.58) and with the atrophy subgroup (pC = 0.04, OR = 10.5, 95% CI 1.75-70.95). This study provides the evidence of an association between HLA class II alleles with clinical and genetic heterogeneity in myasthenia gravis, particularly in those with thymoma (HLA-DR11).

[Effect of the graded muscle contraction on the H reflex and long latency reflexes of the thenar and hypothenar muscles to a fixed threshold stimulus]. / Efecto de la contracción muscular graduada en el reflejo H y en los reflejos de larga latencia de los músculos tenares e hipotenares a un estímulo umbral fijo.

INTRODUCTION: To determine the percentage of appearance of the H reflex and long latency reflexes (LLRs) in the thenar and hypothenar muscles of normal subjects to a fixed threshold mixed nerve electrical stimulus and variable degrees of muscle contraction. METHODS: Fifteen subjects aged 21 to 32 years of age without any prior history of central or peripheral neurological diseases volunteered for the study. The stimulation was a constant currrent given at the wrist with the cathode positioned proximally; started at 1 mA and it was gradually increased mA by mA until the M response appeared with the subject relaxed. The intensity of the stimulation was thereafter kept constant. The contraction was an abducting movement of the thumb in the case of the thenar muscle and abduction of the digiti minimi in the case of the hypothenar muscle and was sustained throughout the study. The reflexes were elicited with a repetition rate of 3 Hz, the stimulus was a square pulse of 0.5 ms. We used a low frequency pass filter of 10 Hz and a high frequency pass filter of 10 kHz. The sweep speed was set a 10 ms per division. The responses were averaged 200 times and then smoothed. RESULTS: The mean intensity of the stimulus that evoked the H response, for all subjects, was 7.5 2.8 mA. The mean latency of the H reflex elicited with stimulation of the median nerve was 26 ms 2.03 ms (std. error 0.28, maximum 28.2, minimum 22.0). The mean latency of the H reflex elicited with stimulation of the ulnar nerve was 25.1 ms 1.64 ms (std. error 0.230, maximum 28, minimum 22.3). The difference between the percentage of responses attained under a relaxed condition and with any kind of muscle contraction was highly significant statistically using the Chi square method (p < 0.001). When we compared the percentage of the H responses obtained with slight, moderate, strong contraction, and contraction against resistance, between them, we did no find a significant difference. The LLRs appeared only in the trials with strong contraction. CONCLUSIONS: The H reflexes and the LLRs of the thenar and hypothenar muscle were not obtained with threshold stimulation when these muscles were relaxed. With any degree of muscle contraction the H reflex in these muscles could be obtained in 94 percent of the trials. Maximal contraction and contraction against resistance were the best conditions to elicit long latency responses.

Efecto de la contracción muscular graduadaen el reflejo H y en los reflejos de larga latenciade los músculos tenares e hipotenares a unestímulo umbral fijo / Effect of graded muscle contraction on the H reflex and long latency reflexes of the thenar and hypothenar muscles to a fixed threshold stimulus

Introducción: Determinar el porcentaje de aparición del reflejo H y de los reflejos de larga latencia (RLL) en los músculos tenares e hipotenares de sujetos sanos a un estímulo fijo a un nervio mixto con contracción muscular variable.Métodos: Quince sujetos con edades entre 21 y 32 años sin historia previa de enfermedad del sistema nervioso central periférico se ofrecieron voluntarios para el estudio. El estímulo fue dado en la muñeca con un estimulador de corriente constante con el cátodo posicionado proximalmente. El estímulo se inició a 1 mA y fue gradualmente incrementado mA por mA hasta que la respuesta M apareciese con el sujeto relajado. La intensidad del estímulo se mantuvo después constante a través del estudio. La contracción fue un movimiento isométrico de abducción del pulgar y del quinto dedo y fue mantenida constante durante la estimulación. Las respuestas fueron promediadas 200 veces y alisadas.Resultados: La intensidad promedio del estímulo que evocó el reflejo H en todos los sujetos fue 7,5 ñ 2,9 mA. La latencia promedio del reflejo H del nervio mediano fue 26 ñ 2,03 ms (EE 0.28, máximo 28,2, mínimo 22,0 ms). La latencia promedio del reflejo H estimulando el nervio cubital fue 25,1 ñ 1,64 ms (EE 0,230, máximo 28, mínimo 22,3 ms). Las diferencias en latencia entre estos dos nervios no fue significativa. La latencia no cambió con las diferentes intensidades de la contracción muscular. Con el músculo relajado se obtuvo el reflejo en 6 de las pruebas (6/60, 10 por ciento). En 227 de las 240 pruebas con contracción muscular de cualquier intensidad se obtuvo la respuesta (227/240, 94,5 por ciento). La diferencia fue altamente significativa (p < 0,001). Las respuestas de latencia larga sólo aparecieron con la contracción máxima o máxima contra resistencia.Conclusiones: Los reflejos H y los reflejos de larga latencia de los músculos tenares e hipotenares no fueron obtenidos con los músculos relajados. Con cualquier grado de contracción muscular estos reflejos fueron obtenidos en el 94 por ciento de las pruebas. La contracción muscular máxima y la contracción muscular contra resistencia fueron las condiciones óptimas para obtener las respuestas de larga latencia (AU)

The association of myasthenia gravis and connective tissue diseases. Effects of thymectomy in six cases with rheumatoid arthritis and one case with systemic lupus erythematosus.

OBJECTIVES: To describe the effects of thymectomy in a group of patients with myasthenia gravis (MG) with associated connective tissue diseases (CTD). PATIENTS AND METHODS: We analyzed six patients with CTD and myasthenia. They were followed-up for at least 3 years. RESULTS: Records of a cohort of 132 patients with established diagnosis of MG undergoing thymectomy in our institution between 1987-1999 were reviewed. The percentage of patients with CTD was 5 % (6/132). Five patients had rheumatoid arthritis (RA) and one patient systemic lupus erythematosus (SLE). All patients were women, and the mean age was 38.5 years old (SD 13.7). Mean time of MG diagnosis to operation was 16 months (range from 1 to 144 months). Preoperative Osserman classification was the following: stage IIb, four patients; stage III, one patient; and stage IV, one patient. Before surgery all patients were on anticholinesterase agent (pyridostigmine), and four patients were on corticosteroids. An extended transsternal thymectomy was practiced on five patients and a transcervical thymectomy was performed in the remaining patient. Pathologic findings were as follows: thymic hyperplasia in four patients and thymic atrophy in the other two. Good response (remission or improvement) was present in three patients (50 %) and poor response (no change or worse) in the other three (50 %). CONCLUSIONS: A low response to the thymectomy is observed in patients with MG and associated CTD (RA and an SLE).

La asociación de miastenia gravis y enfermedades del tejido conjuntivo. Efectos de timectomía en seis casos con artritisreumatoidea y un caso con lupuseritematoso sistémico / The association of myasthenia gravis and connective tissue diseases. Effects of thymectomy in six cases

Objetivos: Describir los efectos de la timectomía en un grupo de pacientes con miastenia gravis (MG) con enfermedades del tejido conectivo asociado (ETC). Pacientes y métodos: Analizamos seis pacientes con ETC y miastenia. Se les hizo un seguimiento de al menos 3 años. Resultados: Se realizó una revisión entre los años 1987-1999 en nuestra institución de los ficheros de una cohorte de 132 pacientes con diagnosis de MG establecida que sufren de timectomía. El porcentaje de pacientes con ETC fue del 5 por ciento (6/132). Cinco pacientes tuvieron artritis reumatoidea (AR) y uno lupus eritematoso sistémico (LES). Todos los pacientes eran mujeres y la media de edad fue de 38,5 años (DE 13,7). El tiempo medio desde el diagnóstico de MG hasta la intervención fue de 16 meses (límites 1 a 144 meses). La clasificación preoperatoria de Osserman fue la siguiente: estadío IIb, cuatro pacientes; estadío III, un paciente, y estadío IV, un paciente. Antes de la intervención todos los pacientes estaban tomando anticolinesterásicos (piridostigmina) y cuatro pacientes tomaban corticoides. A cinco pacientes se les practicó una timectomía transesternal extendida y al paciente restante se le efectuó una timectomía transcervical. Los hallazgos patológicos fueron los siguientes: hiperplasia tímica n cuatro pacientes y atrofia tímica en los otros dos. Tres pacientes (50 por ciento) presentaron buena respuesta (remisión o mejora), y los otros tres pacientes (50 por ciento) pobre respuesta (ningún cambio o empeoramiento).Conclusiones: Se observó una baja respuesta a la timectomía en pacientes con MG en asociación con ETC (AR y un LES) (AU)

Prognostic factors of thymectomy in patients with myasthenia gravis: a cohort of 132 patients.

OBJECTIVE: To identify the response to thymectomy and the factors associated with a poor response, a nested case-control study was performed on 132 patients with an established diagnosis of myasthenia gravis who had had a thymectomy between 1987 and 1997 and had been followed up for at least 3 years. METHODS: In order to assess the response to thymectomy, the following two points were taken into account: (a) the dose of pyridostigmine and other drugs (steroids, azathioprine) that the patient took before and after thymectomy, and (b) the Osserman classification before and after thymectomy. The patients were divided into 4 groups: (1) patients in remission; (2) patients with improvement; (3) patients with no change, and (4) patients who were worse. RESULTS: 91 patients had a good response (69%) and 41 patients had a poor response (31%). The response by groups was as follows: 50 patients were found to be in remission; 41 patients had improved; 34 patients had no changes, and 7 got worse. Being more than 60 years old was associated with a poor prognosis (odds ratio 4.6, CI 1.11-20.32, p 0.01). The patients who had the disease for more than 3 years (odds ratio 2.97, CI 0.79-5.39, p 0.09) had a tendency towards a bad prognosis even though there was no statistical significance, and for those who had it for more than 4 years (odds ratio 2.58, CI 0.89-0.96, p 0.02) the bad prognosis was statistically significant. The patients who had the disease for more than 3 years between diagnosis and thymectomy (odds ratio 2.02, CI 0.69-5.90, p 0.15) and those with it for more than 4 years (odds ratio 2.53, CI 0.83-7.7, p 0.06) had a tendency towards a poor prognosis even though there was no statistical significance. In addition, having Osserman I was associated with a bad prognosis. Referring to the pathological findings, patients with thymoma (odds ratio 3.51, CI 0.43-31.5, p 0.15) and those with thymic atrophy (odds ratio 2.19, CI 0.93-5.16, p 0.04) had a poor prognosis. Finally, the use of steroids before thymectomy (odds ratio 2.26, CI 0.99-5.18, p 0.03) was associated with a worse prognosis. CONCLUSIONS: The response to thymectomy was high (69%). The variables that had the most prognostic importance were age and the Osserman stage. Other variables of poor prognosis were: high doses of pyridostigmine and use of steroids before surgery; the total duration of the disease and the duration of the disease between diagnosis and the surgical procedure; history of previous thymectomy; use of plasmapheresis after surgery, and the discovery of thymic atrophy and thymoma in the histopathological result.

Horizontal appendicular dysmetria in four patients with a typical Wallenberg's syndrome.

During the acute stage of a Wallenberg's syndrome ipsilateral appendicular dysmetria is frequently seen. The dysmetria is more apparent in the ipsilateral upper extremity. These patients also have a peculiar type of dysmetric eye movements that are characterized by hypermetric saccades toward the side of the lesion and hypometric saccades to the opposite side. We examined four patients with acute Wallenberg's syndrome and found horizontal dysmetria of the affected extremity. Hypermetric arm and hand movements were present to the side of the lesion and hypometric movements toward the opposite side. This type of dysmetria is probably related to the same patophysiological mechanism that underlies dysmetric eye movements in the Wallenberg's syndrome. The dysmetria tends to disappear with time although it continues to be present in some patients six months after the ischemic damage.

HLA class II genotypes in Mexican Mestizos with familial and nonfamilial multiple sclerosis.

Predisposition to MS is associated with the HLA-DR2 antigen in white patients. The authors investigated the genetic factors behind the increasing frequency of MS in the Mexican population. HLA-DR and DQ were analyzed in 17 patients with MS, 15 of their first-degree relatives, and 99 healthy ethnically matched controls. DR2 or DR3 was found in 15 of 17 patients. In controls, both alleles had frequencies less than 0.05. MS in Mexican patients was associated with HLA-DR2 and DR3.

[The other genome: the clinical concept of mitochondrial cytopathies or disorders of pxidative phosphorylation]. / El otro genoma: el concepto clínico de las citopatías mitocondriales o enfermedades de la fosforilación oxidativa.

The investigations of mitochondrial DNA abnormalities and its relationship with derangements of oxidative phosphorylation and electron transport system, has yielded description a myriad of syndromes called mitochondrial diseases or cytopathies. The objective of this paper is to review the clinical relevant features of this heterogeneous group of diseases, to understand the board spectrum of signs and symptoms and suggest an algorithm for the diagnosis.

[Alexia without agraphia due to the lesion in the right occipital lobe in a right-handed man. Detection of hemispheric lateralization of handedness and language in a right-handed patient]. / Alexia sin agrafia por lesión occipital derecha en varón diestro. Segregación de la lateralización hemisférica manual y del lenguaje en un paciente diestro.

INTRODUCTION AND CLINICAL CASE: A 65 year-old man, right-handed, without any family history of left handiness, suddenly developed a left homonymous hemianopia and incapacity for reading. Neurological and neuropsychological examinations showed the presence of a profound alexia with preservation of writing to dictation and spontaneously. He was unable to read what he had written. He could spell the words letter by letter but he was unable to read the complete word. MRI showed an extensive infarct in the territory of the right posterior cerebral artery. The infarct extended anteriously to the right thalamus and to the medial temporal fifth or fusiform gyrus. The splenius was spared. Brain SPECT disclosed the area of the infarct and an extensive area of decreased cerebral perfusion over the right parietal and temporal areas. CONCLUSION: Alexia without agraphia has been reported in right-handed patients with left occipital lesions and in right occipital regions in left-handed patients but rarely if ever in right occipital lesions in right-handed patients.

Kearns-Sayre syndromes an absolute indication for prophylactic implantation of definitive pacemaker?

Kearns-Sayre syndrome is a mitochondrial cytopathy characterized by chronic progressive external ophthalmoplegia, retinitis pigmentosa and heart block, the last of which determines the survival of these patients. The case of a 23 year old man with Kearns-Sayre syndrome, conduction disturbances and mitral valve prolapse is presented. The characteristics of this syndrome are described and the criteria for prophylactic installation of a pacemaker discussed.

[A case of cortical amusia in a patient with musical ability]. / Un caso de amusia cortical en una paciente con habilidad musical.

CLINICAL CASE: A women who had previously had musical ability presented with bilateral embolic damage to both superior temporal convolutions. For the first few days, she had complete cortical deafness with reception aphasia. This evolved to a slight Wernicke's aphasia and reception amusia. The amusia was characterized by inability to understand lyrics and tunes, and in this patient has persisted a year and a half later. CONCLUSIONS: It is postulated that the inability to understand the words of songs is due to damage to the first left temporal convolution, whilst the amusia of tunes is due to damage to the first right temporal convolution.