Importancia del tamaño de las tuberosidades en las complicaciones del complejo esclerosis tuberosa / Significance of tuber size for complications of tuberous sclerosis complex

Introducción: El complejo esclerosis tuberosa (CET) es uno de los trastornos neurocutáneos más frecuentes. Las tuberosidades corticales son las alteraciones patológicas más frecuentes y están relacionadas directamente con las principales expresiones clínicas, crisis epilépticas, retraso mental y comportamiento autista. El motivo de este trabajo es mostrar la importancia de los diferentes tipos de tuberosidades en la expresión clínica de los pacientes. Objetivo: La finalidad de este trabajo es relacionar el tamaño de las tuberosidades con la severidad de las alteraciones clínicas. Material y métodos: Se estudiaron retrospectivamente los hallazgos clínicos y neurorradiológicos de 45 pacientes infantiles (22 mujeres y 23 varones) con CET y comparamos los hallazgos clínicos con la localización, el tamaño y el número de las tuberosidades corticales en cada paciente. Resultados: Cuatro pacientes tenían tuberosidades muy voluminosas en los hemisferios cerebrales. Todas mostraban crisis epilépticas muy rebeldes y retraso mental profundo con comportamiento autista en 3 de ellos, pese a que se extirparon las tuberosidades en los 4 casos. Trece pacientes tenían tuberosidades de tamaño promedio-grande. Todos tenían crisis epilépticas muy rebeldes y retraso mental. Nueve pacientes habían tenido espasmos infantiles durante el primer año de vida y presentaban comportamiento autista. Veintiocho pacientes mostraban muchas tuberosidades de tamaño promedio-pequeño. La mayoría de ellos tenían crisis con buena respuesta al tratamiento farmacológico y poca prevalencia del autismo. Tres pacientes mostraban tuberosidad córtico-subcortical única en un polo frontal u occipital, todos ellos con crisis controladas con medicación y cociente intelectual normal. Trece pacientes de los 45 tenían tuberosidades cerebelosas, siempre asociadas a algún tipo de tuberosidad hemisférica y generalmente presentes en casos con mayor expresividad clínica. Conclusiones: Las tuberosidades de gran tamaño, aunque sean poco numerosas, tienen mucha mayor relación con la presencia de sintomatología clínica severa —crisis epilépticas, retraso mental y comportamiento autista— que las tuberosidades de pequeño-mediano tamaño, aunque sean muy numerosas (AU)

Introduction: Tuberous sclerosis complex (TSC) is one of the most frequent neurocutaneous disorders. Cortical tubers are the most common pathological changes in TSC and they are directly related to the disease's main clinical manifestations: seizures, mental retardation, and autistic behaviour. Objective: The aim of this study is to establish a correlation between tuber size and the severity of clinical features in TSC. Material and methods: We performed a retrospective study of the clinical and imaging findings from 45 TSC patients (22 females and 23 males) and compared the clinical features with the location, size, and number of the cortical tubers in each patient. Results: Four patients had voluminous tubers located in 1 or both cerebral hemispheres. All of these patients had intractable seizures and severe mental retardation; 3 of these cases also presented with autistic behaviour, despite tubers having been resected in all 4 patients. Thirteen patients had tubers of large-to-average size, and all patients in this group showed intractable seizures and mental retardation. Nine patients who had experienced infantile spasms during the first year of life presented autistic behaviour. Multiple tubers of small to average size were found in 28 patients. In general, this group had seizures that responded well to antiepileptic drugs and a low prevalence of autism. In 3 patients who all presented good seizure control and normal intelligence, single cortical/subcortical tubers were located in the frontal or occipital lobes. Of the total of 45 patients, 13 had cerebellar as well as cerebral tubers; these were generally present in cases with more severe clinical features. Conclusions: Although large tubers are less common than small to medium-sized ones, they are much more likely to be accompanied by severe clinical symptoms (seizures, mental retardation and autistic behaviour), even when the smaller tubers are quite numerous (AU)

Significance of tuber size for complications of tuberous sclerosis complex.

INTRODUCTION: Tuberous sclerosis complex (TSC) is one of the most frequent neurocutaneous disorders. Cortical tubers are the most common pathological changes in TSC and they are directly related to the disease's main clinical manifestations: seizures, mental retardation, and autistic behaviour. OBJECTIVE: The aim of this study is to establish a correlation between tuber size and the severity of clinical features in TSC. MATERIAL AND METHODS: We performed a retrospective study of the clinical and imaging findings from 45 TSC patients (22 females and 23 males) and compared the clinical features with the location, size, and number of the cortical tubers in each patient. RESULTS: Four patients had voluminous tubers located in 1 or both cerebral hemispheres. All of these patients had intractable seizures and severe mental retardation; 3 of these cases also presented with autistic behaviour, despite tubers having been resected in all 4 patients. Thirteen patients had tubers of large-to-average size, and all patients in this group showed intractable seizures and mental retardation. Nine patients who had experienced infantile spasms during the first year of life presented autistic behaviour. Multiple tubers of small to average size were found in 28 patients. In general, this group had seizures that responded well to antiepileptic drugs and a low prevalence of autism. In 3 patients who all presented good seizure control and normal intelligence, single cortical/subcortical tubers were located in the frontal or occipital lobes. Of the total of 45 patients, 13 had cerebellar as well as cerebral tubers; these were generally present in cases with more severe clinical features. CONCLUSIONS: Although large tubers are less common than small to medium-sized ones, they are much more likely to be accompanied by severe clinical symptoms (seizures, mental retardation and autistic behaviour), even when the smaller tubers are quite numerous.

Tumores de los hemisferios cerebrales en la neurofibromatosis tipo 1 durante la infancia / Cerebral hemisphere tumours in neurofibromatosis type 1 during childhood

Objetivo. Presentar siete tumores en los hemisferios cerebrales en seis niños con neurofibromatosis tipo 1 (NF1). Pacientes y métodos. Seis pacientes (tres mujeres y tres varones) entre 600 casos con NF1 presentaban síntomas de tumor de los hemisferios cerebrales (crisis epilépticas, cefaleas y hemiparesia). Fueron estudiados por estos hechos o simplemente por la NF1 desde el punto de vista neurológico, mediante electroencefalograma e imagen (resonancia magnética o resonancia magnética espectroscópica). Resultados. Todos los pacientes presentaban los dos criterios diagnósticos de la NF1. Seis pacientes presentaban siete tumores (una paciente tenía un tumor en cada lóbulo frontal; las imágenes radiológicas de ambos fueron de similares características, pero no se extirparon y no se realizó el estudio histológico). El estudio histológico de los tumores extirpados se realizó a los otros cinco pacientes, y mostró que correspondía a astrocitoma pilocítico en el primero, tumor neuroepitelial disembrioplásico en el segundo, hamartoma neuroectodérmico en el tercero, xantoastrocitoma polimorfo en el cuarto y lesión inflamatoria crónica no granulomatosa en el quinto. Conclusión. La prevalencia de los tumores de los hemisferios cerebrales es muy baja (1%) en los pacientes con NF1. Los tumores son generalmente de naturaleza histológica benigna y pueden localizarse en zonas periféricas o centrales de los hemisferios cerebrales. La identificación tumoral mediante resonancia magnética es comúnmente fácil y el tratamiento es quirúrgico en la mayoría de los casos. En pocas ocasiones hay que actuar con urgencia en estos tumores, y la mayoría de las veces se puede adoptar la actitud prudente de ‘esperar y ver’ hasta tomar la decisión definitiva (AU)

Aim. To present seven tumors of the cerebral hemispheres in 6 children with neurofibromatosis type 1 (NF1). Patients and methods. Six patients (three males and three females) of 600 cases of a series with NF1 showed features of cerebral hemispheres tumor (seizures, headache and hemiparesis). They were studied neurologically, by EEG and by image (MR and/or spectroscopic-MR) because of these features or simply because having NF1. Results. All the patients had the two diagnostic criteria of the NF1. Six patients had seven tumors (it was because one of them had one tumor in every frontal lobe, both with the same image characteristics), but they did not were removed and they were not studied histologically. The histological study was made to the other five patients and showed that the histological nature corresponded to pilocytic astrocytoma in one patient, neuroepitelial dysembryoplastic tumor in one, polymorphe xanthoastrocytoma in one, neuroectodermic hamartoma in one, and inflammatory chronic nongranulomatose lesion in one. Conclusion. The prevalence of the tumors in the cerebral hemispheres is very low (1%) in the patients with NF1. The tumors commonly are histologically benign, and they can be found in peripheral or deep region of the cerebral hemispheres. Identity of the tumors by MR study commonly is easy and the treatment is surgical in most cases. However, urgent treatment very seldom is necessary in these tumors, and most frequently is possible to take the attitude of ‘wait and see’ before to decide the definite treatment (AU)

Stroke due to septic embolism resulting from Aspergillus aortitis in an immunocompetent patient.

INTRODUCTION: Cerebral infarction secondary to Aspergillus arteritis or septic embolism is an exceptional finding. We present a case of multiple systemic embolism and cerebral infarction resulting from Aspergillus aortitis in an immunocompetent patient. PATIENT: A 65-year-old male with hypertension, hyperglycaemia and myocardial infarction with aorto-coronary by-pass surgery three years before admission, that suffered cerebral infarction in middle right cerebral artery territory and right cubital artery embolism. One month later he presented abrupt increase of his left hemiparesia and left central facial palsy associated with fever of unknown origin. Laboratory test, cranial CT and echocardiogram were performed. He died ten days later. RESULTS: Hemogram: leucocytes 34.700/microL (85% N, 4.8%L). Cranial CT: cerebral infarction in middle right cerebral artery territory. Transthoracic and transesophageal echocardiogram: moderate left ventricular hypertrophy and slight inferior hypokinesis. Arteriography: complete thrombosis of the left internal carotid. Necropsy: parietal aortic aspergillosis with generalized septic embolisms (brain, kidney, liver, fingers), cerebral infarction in middle right cerebral artery territory and thrombosis of the left carotid siphon with Aspergillus arteritis. CONCLUSIONS: Aspergillosis is an exceptional cause of cerebral infarction, especially in immunocompetent patients, and their diagnosis is complicated, being usually found at necropsy.

[Opsoclonus-myoclonus-ataxia syndrome: two anatomo-clinical case reports]. / Sindrome opsoclono-mioclono-ataxia: dos casos anatomoclinicos.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome (OMAS) is characterised by the acute or subacute development of chaotic eye movements and diffuse myoclonus. On some occasions it is associated with ataxia and encephalopathy. In adults there are multiple causations and a possible paraneoplastic origin must always be taken into account. CASE REPORTS: We report two cases of OMAS of a paraneoplastic origin with a post mortem study. In the first case, the syndrome was associated to a small-cell carcinoma in the lungs, and in the second patient it was associated to a digestive lymphoma. Neuroimaging studies did not reveal any kind of alterations in either of the two cases. In our cases, none of the antibodies that are relatively frequently associated to this syndrome were found. In both of them, an immunomodulator treatment regimen was established; only the patient with the lymphoma showed an initial improvement with antineoplastic therapy. In the pathological study, alterations were observed in the brain stem, and in the second patient alterations were also found in the cerebellum. CONCLUSIONS: This is a rare condition that obliges the specialist to think in order to reach a correct diagnosis, and to search for the primary tumour and establish early treatment in order to bring about an improvement and even the remission of the neurological signs and symptoms. The pathological findings are not pathognomonic, but they are typical of this syndrome.

Síndrome opsoclono-mioclono-ataxia: dos casos anatomoclínicos / Opspclonus. Myoclonuz-ataxia syndrome: Two anatomo-clinical case reports

Introducción. El síndrome opsoclono-mioclono-ataxia (SOMA) se caracteriza por el desarrollo agudo o subagudode movimientos oculares caóticos y mioclono difuso. En algunas ocasiones, asocia ataxia y encefalopatía. En el adulto existen múltiples etiologías, y hay que tener siempre en cuenta el posible origen paraneoplásico. Casos clínicos. Presentamos dos casos de SOMA de origen paraneoplásico con estudio post mortem. En el primer caso, el síndrome se asoció a un carcinomade células pequeñas de pulmón, y en el segundo paciente a un linfoma digestivo. Los estudios de neuroimagen no mostraron alteraciones en ninguno de los dos casos. No se descubrió en nuestros casos ninguno de los anticuerpos asociados con relativa frecuencia a este síndrome. En ambos se pautó tratamiento inmunomodulador; únicamente el paciente con linfoma mejoró inicialmente con el tratamiento antineoplásico. En el estudio anatomopatológico se observaron alteraciones en el tronco del encéfalo, y en el segundo paciente también en el cerebelo. Conclusión. Se trata de una entidad rara, en la que hay que pensar para lograr un diagnóstico correcto, búsqueda del tumor primario y su tratamiento precoz, con el fin de producir mejoría e inclusoremisión del cuadro neurológico. Los hallazgos anatomopatológicos no son patognomónicos, pero sí típicos de este síndrome

Introduction. Opsoclonus-myoclonus-ataxia syndrome (OMAS) is characterised by the acute or subacute development of chaotic eye movements and diffuse myoclonus. On some occasions it is associated with ataxia and encephalopathy. In adults there are multiple causations and a possible paraneoplastic origin must always be taken into account. Case reports. Wereport two cases of OMAS of a paraneoplastic origin with a post mortem study. In the first case, the syndrome was associated to a small-cell carcinoma in the lungs, and in the second patient it was associated to a digestive lymphoma. Neuroimaging studies did not reveal any kind of alterations in either of the two cases. In our cases, none of the antibodies that are relativelyfrequently associated to this syndrome were found. In both of them, an immunomodulator treatment regimen was established; only the patient with the lymphoma showed an initial improvement with antineoplastic therapy. In the pathological study, alterations were observed in the brain stem, and in the second patient alterations were also found in the cerebellum. Conclusions. This is a rare condition that obliges the specialist to think in order to reach a correct diagnosis, and to search forthe primary tumour and establish early treatment in order to bring about an improvement and even the remission of the neurological signs and symptoms. The pathological findings are not pathognomonic, but they are typical of this syndrome

Aortitis por aspergillus tras cirugía combinada valvular aórtica y by-pass aortocoronario / Aspergillus aortitis after aortic valve and triple aorto-coronary by-pass surgery

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[Systemic necrotizing vasculitis in autopsy]. / Vasculitis necrosante sistémica en la autopsia.

OBJECTIVE: To analyze the characteristics of systemic necrotizing vasculitis observed in necropsy emphasizing the non-diagnosed cases until necropsy and to identify the reasons of clinical confusion. MATERIALS AND METHODS: Necropsies of adult patients performed in Hospital General La Paz, Madrid, from 1966 to 1977 were reviewed. Clinical manifestations, analytical changes and involvement of different organs were analyzed. The correspondence degree between clinical and necropsic diagnoses was studied. RESULTS: A total of 18 cases of necrotizing vasculitis were observed out of 3,980 necropsies. The most common clinical manifestations were fever and general syndrome (60%). The organs most commonly involved were kidney (94%) and gastrointestinal tract (56%). Diagnosis was revealed by necropsy in 39% of cases; in these cases, the incidence of heart failure and peripheral neuropathy was significantly lower, whereas digestive hemorrhage and liver, pancreas, adrenal gland, and bladder involvement was significantly higher. CONCLUSIONS: Systemic necrotizing vasculitis in underdiagnosed, which can be partly explained by the lack of specificity of the most common symptoms and the paucity of characteristic clinical and organ-specific manifestations which leads to confusion with more prevalent conditions.

Vasculitis necrosante sistémica en la autopsia / Systemic necrotizing vasculitis in necropsy

Objetivo. Análisis de las características de las vasculitis necrosantes sistémicas observadas en la autopsia con énfasis en los casos no diagnosticados hasta la misma e identificar los motivos de confusión clínica. Material y métodos. Se revisaron las autopsias de adultos realizadas en el Hospital General La Paz de Madrid entre 1966-1997; se analizaron las manifestaciones clínicas, alteraciones analíticas y afectación de los diferentes órganos y se estudió el grado de correspondencia entre cada diagnóstico clínico y necrópsico. Resultados. En 3.980 autopsias se encontraron 18 casos de vasculitis necrosante sistémica. Las manifestaciones clínicas más frecuentes fueron fiebre y síndrome general (60 por ciento). Los órganos más frecuentemente afectados fueron riñón (94 por ciento) y tracto gastrointestinal (56 por ciento). En el 39 por ciento de los casos fue la autopsia la que reveló el diagnóstico; en estos casos la incidencia de insuficiencia cardíaca y neuropatía periférica fue significativamente más baja, mientras que la hemorragia digestiva y la afectación de hígado, páncreas, suprarrenales y vejiga fue significativamente mayor. Conclusiones. Las vasculitis necrosantes sistémicas se infradiagnostican; contribuyen a ello la inespecificidad de los síntomas más frecuentes, induciendo confusión con entidades más prevalentes y la escasez de manifestaciones clínicas características y órgano específicas (AU)

Small arterial granular degeneration in familial Binswanger's syndrome.

A 55-year-old mildly hypertensive woman died after having developed a subcortical dementia during the past 9 years, with focal neurological signs. She presented at the age of 46 years with short episodes of dizziness and diplopia, suggesting that transient ischemic attacks involved the posterior fossa structures. Over the next 8 years, she developed difficulty in walking, urinary incontinence and seizures. On examination in 1989, she was severely demented. There was tetraparesis, bilateral arm and leg spasticity with hyperreflexia and bilateral Babinski signs. She showed epilepsia partialis continua involving the eyes, left hemiface and limbs. CT showed hypodensity of the white matter and lacunes in the basal ganglia and centrum semiovale, moderate hydrocephalus with cerebellar and cortical atrophy. Clinical and radiological features were similar to those of Binswanger's disease. Similar cases had occurred in the family affecting the patient's grandfather, father and two brothers, suggesting an autosomal dominant hereditary disease. Postmortem examination disclosed a Binswanger type of leukoencephalopathy caused by a peculiar microangiopathy characterized by a slightly basophilic small arterial granular degeneration of the medial sheath associated with the presence of ballooned smooth muscle cells with clear cytoplasm. Electron microscopic study revealed degenerative changes in the parietal vessels with notable increase of basal-membrane-type material and electron-dense granular deposits. These lesions could correspond to a specific familial pathology of the small arteries of the brain. They are identical to those reported in some patients with autosomal dominant inheritance. For other patients with similar clinical features and the same familial pattern, reported as "hereditary multi-infarct dementia'' and "chronic familial vascular encephalopathy'', there are no sufficient objective pathological facts to consider that they have the same disease.(ABSTRACT TRUNCATED AT 250 WORDS)

[Neuropathology of HIV infection]. / Neuropatología de la infección VIH.

Some references about the important neuropathologic lesions observed in patients with AIDS and about the variation on the relative incidence of the processes detected when analyzing clinic and neuropathologic tables, as well as a mention to the confusion created by terminological problems, clinicopathologic disagreement and wrong etiologic attributions, are used as an introduction to the exposition of HIV infection neuropathology. In a first section, Central Neuropathology is described, starting with the disorders considered as primarily caused by HIV. Then, infectious secondary Neuropathology, caused by different viruses, parasites, fungi or bacteria, and neoplastic secondary Neuropathology, mainly represented by localized lymphoma and by the uncommon Kaposi's disease, are analyzed. This section also includes references to cerebrovascular complications, Pediatric Neuropathology and ends with an analysis of cerebral biopsy indications. In the second part, Peripheral Neuropathology is described, splitting up peripheral nerve and muscle pathology.