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1.
Pulmonology ; 25(4): 223-235, 2019.
Article in English | MEDLINE | ID: mdl-30509855

ABSTRACT

The diaphragm is the main breathing muscle and contraction of the diaphragm is vital for ventilation so any disease that interferes with diaphragmatic innervation, contractile muscle function, or mechanical coupling to the chest wall can cause diaphragm dysfunction. Diaphragm dysfunction is associated with dyspnoea, intolerance to exercise, sleep disturbances, hypersomnia, with a potential impact on survival. Diagnosis of diaphragm dysfunction is based on static and dynamic imaging tests (especially ultrasound) and pulmonary function and phrenic nerve stimulation tests. Treatment will depend on the symptoms and causes of the disease. The management of diaphragm dysfunction may include observation in asymptomatic patients with unilateral dysfunction, surgery (i.e., plication of the diaphragm), placement of a diaphragmatic pacemaker or invasive and/or non-invasive mechanical ventilation in symptomatic patients with bilateral paralysis of the diaphragm. This type of patient should be treated in experienced centres. This review aims to provide an overview of the problem, with special emphasis on the diseases that cause diaphragmatic dysfunction and the diagnostic and therapeutic procedures most commonly employed in clinical practice. The ultimate goal is to establish a standard of care for diaphragmatic dysfunction.


Subject(s)
Diaphragm/physiopathology , Phrenic Nerve/physiopathology , Respiratory Paralysis/therapy , Ultrasonography/methods , Diaphragm/diagnostic imaging , Diaphragm/innervation , Diaphragm/surgery , Diaphragmatic Eventration/complications , Diaphragmatic Eventration/diagnostic imaging , Diaphragmatic Eventration/physiopathology , Fluoroscopy/methods , Humans , Microsurgery/methods , Phrenic Nerve/injuries , Phrenic Nerve/pathology , Phrenic Nerve/surgery , Radiography/methods , Respiration, Artificial/methods , Respiration, Artificial/trends , Respiratory Function Tests/methods , Respiratory Paralysis/etiology , Transcutaneous Electric Nerve Stimulation/methods
2.
Clin Neurol Neurosurg ; 114(1): 42-6, 2012 Jan.
Article in English | MEDLINE | ID: mdl-21824721

ABSTRACT

Intraparenchymal schwannomas are very rare tumours. We present two young adult patients operated for this type of lesion who show no signs of recurrence 2 years after surgery. These tumours have a bimodal peak of presentation: most occur in young patients under 25 years, and the rest present in the elderly. Characteristically they show both Antoni A and Antoni B areas, intense inmunoreactivity to S-100 and Vimentin protein, and none to EMA or CD34. Electron microscopy is diagnostic when basal membrane is found around the cytoplasmatic processes. MRI spectroscopy depicts increased myoinositol, choline and lipids, and perfusion MR demonstrates high rCBV with a characteristic curve due to the total absence of blood brain barrier. An origin in the Schwann cells of the perivascular nervous plexus in the subarachnoid space is the most accepted theory for the histogenesis of these tumours. We propose to perform the characterization of a series of markers such as SOX-10 in every new case in order to prove that theory.


Subject(s)
Brain Neoplasms/pathology , Neurilemmoma/pathology , Biomarkers, Tumor , Brain Neoplasms/surgery , Epilepsy, Complex Partial/etiology , Epilepsy, Complex Partial/pathology , Headache/etiology , Humans , Image Processing, Computer-Assisted , Magnetic Resonance Imaging , Male , Microscopy, Electron , Neurilemmoma/surgery , Neurologic Examination , Neurosurgical Procedures , Occipital Lobe/pathology , Recovery of Function , Treatment Outcome , Young Adult
3.
AJNR Am J Neuroradiol ; 33(4): 701-7, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22207304

ABSTRACT

BACKGROUND AND PURPOSE: In cerebral gliomas, rCBV correlates with tumor grade and histologic findings of vascular proliferation. Moreover, ADC assesses water diffusivity and is inversely correlated with tumor grade. In the present work, we have studied whether combined rCBV and ADC values improve the diagnostic accuracy of MR imaging in the preoperative grading of gliomas. MATERIALS AND METHODS: One hundred sixty-two patients with histopathologically confirmed diffuse gliomas underwent DWI and DSC. Mean rCBV and ADC values were compared among the tumor groups with the Student t test or ANOVA. ROC analysis was used to determine rCBV and ADC threshold values for glioma grading. RESULTS: rCBV had significantly different values between grade II and IV gliomas and between grade III and IV tumors, but there were no significant differences between grade II and III gliomas (P > .05). Grade II and III tumors also did not differ when astrocytomas, oligodendrogliomas, and oligoastrocytomas were considered separately. ADC values were significantly different for all 3 grades. The ADC threshold value of 1.185 × 10(-3) mm(2)/s and the rCBV cutoff value of 1.74 could be used with high sensitivity in the characterization of high-grade gliomas. The area under the ROC curve for the maximum rCBV and minimum ADC was 0.72 and 0.75, respectively. The combination of rCBV and ADC values increased the area under the ROC curve to 0.83. CONCLUSIONS: ADC measurements are better than rCBV values for distinguishing the grades of gliomas. The combination of minimum ADC and maximum rCBV improves the diagnostic accuracy of glioma grading.


Subject(s)
Blood Volume Determination/methods , Brain Neoplasms/pathology , Diffusion Magnetic Resonance Imaging/methods , Glioma/pathology , Image Enhancement/methods , Magnetic Resonance Angiography/methods , Neovascularization, Pathologic/pathology , Adult , Aged , Brain Neoplasms/secondary , Female , Glioma/surgery , Humans , Male , Middle Aged , Neoplasm Grading , Neovascularization, Pathologic/surgery , Preoperative Care/methods , Reproducibility of Results , Sensitivity and Specificity , Young Adult
4.
J Inherit Metab Dis ; 32 Suppl 1: S339-43, 2009 Dec.
Article in English | MEDLINE | ID: mdl-19924563

ABSTRACT

Most cases of pyruvate dehydrogenase complex (PDHc) deficiency are attributable to mutations in the PDHA1 gene which encodes the E(1)α subunit, with few cases of mutations in the genes for E(3), E3BP (E(3) binding protein), E(2) and E(1)-phosphatase being reported. Only seven patients with deficiency of the E(1)ß subunit have been described, with mutations in the PDHB gene in six of them. Clinically they presented with a non-specific encephalomyopathy. We report two patients with new mutations in PDHB and Leigh syndrome. Patient 1 was a boy with neonatal onset of hyperlactataemia, corpus callosum hypoplasia and a convulsive encephalopathy. After neurological deterioration, he died at age 5 months. Autopsy revealed the characteristic features of Leigh syndrome. Patient 2, also a boy, presented a milder clinical course. First symptoms were noticed at age 16 months with muscular hypotonia, lactic acidosis and recurrent episodes of somnolence and transient tetraparesis. MRI revealed bilateral signal hyperintensities in the globus pallidus, midbrain and crura cerebri. PDHc and E(1) activities were deficient in fibroblasts in patient 1; in patient 2 PDHc deficiency was found in skeletal muscle. Mutations in PDHA1 were excluded. Sequencing of PDHB revealed a homozygous point mutation (c.302T>C), causing a predicted amino acid change (p.M101T) in patient 1. Patient 2 is compound heterozygote for mutations c.301A>G (p.M101V) and c.313G>A (p.R105Q). All three mutations appear to destabilize the E(1) enzyme with a decrease of both E(1)α and E(1)ß subunits in immunoblot analysis. To our knowledge, these patients with novel PDHB mutations are the first reported with Leigh syndrome.


Subject(s)
Leigh Disease/enzymology , Point Mutation , Pyruvate Dehydrogenase (Lipoamide)/deficiency , Pyruvate Dehydrogenase (Lipoamide)/genetics , Amino Acid Sequence , Base Sequence , Child , Child, Preschool , Genetic Carrier Screening , Homozygote , Humans , Infant , Infant, Newborn , Leigh Disease/diagnosis , Leigh Disease/genetics , Male , Molecular Sequence Data
5.
Neurocirugia (Astur) ; 20(4): 381-6; discussion 386-7, 2009 Aug.
Article in English | MEDLINE | ID: mdl-19688140

ABSTRACT

INTRODUCTION: Primitive neuroectodermal tumors (PNETs) are malign neoplasms of the central nervous system which mainly locate in cerebellum (medulloblastoma). Primary intraspinal PNETs are rare. Within this group, we have found ten cases of purely intramedullary PNETs (IPNETs). In this report, we describe a new IPNET case and review the literature about these infrequent intramedullary tumors. CASE REPORT: A 17 month-old boy showed progressive decrease of motion in his lower extremities. Spine magnetic resonance imaging revealed an intramedullary expansive lesion from T3 to T10. A near-total removal was performed. The pathological diagnosis was PNET. Subsequent chemotherapy was recommended. Six months after operation, holocord progression has occurred. CONCLUSION: IPNETs are uncommon tumors affecting children and young adults. They are characterized by recurrence, progression or intracranial dissemination. Outcome is dismal: most patients die within two years in spite of surgical resection followed by radiotherapy and chemotherapy.


Subject(s)
Neuroectodermal Tumors, Primitive/pathology , Spinal Cord Neoplasms/pathology , Thoracic Vertebrae , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Carboplatin/administration & dosage , Cisplatin/administration & dosage , Combined Modality Therapy , Cyclophosphamide/administration & dosage , Disease Progression , Etoposide/administration & dosage , Humans , Infant , Magnetic Resonance Imaging , Male , Methotrexate/administration & dosage , Neuroectodermal Tumors, Primitive/drug therapy , Neuroectodermal Tumors, Primitive/surgery , Paraparesis/etiology , Prognosis , Spinal Cord Neoplasms/drug therapy , Spinal Cord Neoplasms/surgery
6.
Rev. esp. cir. ortop. traumatol. (Ed. impr.) ; 53(4): 242-249, jul.-ago. 2009. tab, ilus
Article in Spanish | IBECS | ID: ibc-62146

ABSTRACT

Objetivo: valorar la eficacia de la descompresión radicular de la estenosis del receso lateral lumbar por técnica microendoscópica.Material y métodoestudio longitudinal prospectivo de 60 pacientes diagnosticados de estenosis de canal lumbar e intervenidos mediante descompresión por vía microendoscópica usando un retractor tubular METRx de 18mm según la técnica METRx (Medtronic Sofamor Danek, Memphis, Estados Unidos). Se evalúan los resultados con la escala visual analógica del dolor (EVA), el índice de discapacidad de Oswestry (ODI), el grado subjetivo de satisfacción percibido por el paciente y la clasificación modificada de Macnab.Resultadosla media±desviación estándar de edad es 54,5±10 años, 34 (56,7%) son varones y 26 (43,3%), mujeres. El área más afectada es L5 (63,33%). La media de tiempo de la intervención quirúrgica fue 85,17±18min. La media de estancia hospitalaria postoperatoria fue 4±1,2 días. El tiempo de seguimiento de los pacientes fue de 12 meses. Obtuvimos un 66,6% de resultados buenos o excelentes; con una satisfacción subjetiva buena en el 68,3% de los pacientes. La disminución media del ODI al año con respecto al preoperatorio es de 34,3±26,2 puntos, la de EVA de extremidades inferiores es de 6,2±2,6 puntos, y en la EVA lumbar, de 1,6±1,8 puntos, todas con significación estadística (p<0,05).Conclusioneslos datos recabados en nuestra experiencia nos indican que la laminectomía descompresiva microendoscópica es una técnica segura y efectiva para el tratamiento de la estenosis del receso lateral lumbar y una alternativa en las técnicas mínimamente invasivas de la columna (AU)


Purpose: To determine the efficacy of microendoscopic radicular decompression of lumbar lateral recess stenosis.Materials and methodsProspective longitudinal study of 60 patients diagnosed with lumbar spinal stenosis and treated by microendoscopic decompression using a METRx 18-mm tubular retractor according to the METRx (Medtronic Sofamor Danek, Memphis, USA) technique. The results were evaluated using a Visual Analog Scale pain score (VAS), the Oswestry Disability Index (ODI), a patient satisfaction questionnaire and the modified Macnab criteria.ResultsMean age was 54.5±10 years; 34 (56.7%) subjects were male and 26 (43.3%) women. The most affected level was L5 (63.33%). Mean OR time was 85.17±18min. Mean postoperative hospital stay was 4±1.2 days. Follow-up was 12 months. We obtained 66.6% good or excellent results and obtained a good subjective satisfaction level in 68.3% of patients. Mean ODI decrease was 34.3±26.2 points, lower-limb VAS was 6.2±2.6 points, and lumbar VAS 1.6±1.8 points; all these results were statistically significant (p<0.05).ConclusionsThe results obtained indicate that, in our experience, microendoscopic decompressive laminectomy is a safe and effective technique for the treatment of the lumbar lateral recess stenosis (AU)


Subject(s)
Humans , Male , Middle Aged , Female , Constriction, Pathologic/complications , Constriction, Pathologic/diagnosis , Laminectomy/methods , Endoscopy/methods , /instrumentation , /trends , /economics , /statistics & numerical data , Minimally Invasive Surgical Procedures/methods , Laminectomy/trends , Decompression, Surgical , Prospective Studies , Lumbosacral Region/injuries , Lumbosacral Region/pathology , Lumbosacral Region/surgery , Pain/diagnosis , Pain/epidemiology
7.
Neurocirugia (Astur) ; 17(3): 250-4, 2006 Jun.
Article in Spanish | MEDLINE | ID: mdl-16855783

ABSTRACT

Meningioangiomatosis (MA) is a rare benign intracraneal lesion. The majority of cases are sporadic although the association of this lesion with familial neurofibromatosis (NF) type 2 is well known. NF-associated MA may be multifocal and is often asymptomatic and diagnosed at autopsy. Non-associated cases are usually symptomatic, occurs in children and young adults and frequently arise in leptomeninges and underlying cerebral cortex. In the present work, we describe two new non-associated cases of MA in two boys, seven and one year old with seizures that disappeared after surgical excision. Histopathologically, the lesion was predominantly cellular in one case and more fibrous in the other. From the literature review we concluded that sporadic cases present as single lesions which manifest by seizures or persistent headaches. Rarely MA has been described to coexist with meningiomas. Histopathologically, MA is characterized by a plaque-like proliferation of meningothelial and fibroblast- like cells surrounding small vessels and trapping islands of gliotic cortical tissue. The lesion does not show significant atypia, mitosis or necrosis. Although all cases of MA share unifying features, there are different degrees of histological presentation with cases predominantly cellular and others more fibrous and calcified. This could correspond to different stages in the evolution of the MA. Symptoms disappear with the complete excision of the lesion.


Subject(s)
Angiomatosis/diagnosis , Meningeal Neoplasms/diagnosis , Meningioma/diagnosis , Adolescent , Adult , Aged , Angiomatosis/etiology , Angiomatosis/pathology , Child , Female , Humans , Infant , Male , Meningeal Neoplasms/etiology , Meningeal Neoplasms/pathology , Meningioma/etiology , Meningioma/pathology , Middle Aged , Neurofibromatosis 2/complications , Review Literature as Topic
8.
Neurocir. - Soc. Luso-Esp. Neurocir ; 17(3): 250-254, jun. 2006. ilus
Article in Es | IBECS | ID: ibc-050150

ABSTRACT

La Meningioangiomatosis (MA) es una lesión benigna intracraneal poco frecuente. La mayoría de los casos son aislados, pero también se han descrito casos asociados a Neurofibromatosis (NF) tipo 2. Los casos asociados a NF suelen ser asintomáticos. Los casos no asociados a NF son sintomáticos, se presentan en niños y adultos jóvenes, y en general afectan a leptomeninge ya corteza cerebral subyacente. En este trabajo se describen 2 casos no asociados a NF en niños de 1 y 7 años de edad, que se manifestaron por crisis, las cuales desaparecieron tras la extirpación de la lesión. Histológicamente las lesiones eran de predominio celular en un caso y de predominio fibro-hialino en el otro. De la revisión de la literatura se concluye que las meningioangiomatosis no asociadas a NF suelen ser lesiones únicas, clínicamente suelen presentarse con crisis convulsivas, y pueden verse asociadas a otras patologías, fundamentalmente a meningiomas. Histológicamente las lesiones corresponden a una proliferación celular de hábito meningotelial que se dispone alrededor de los vasos corticales. A pesar de que todos los casos tienen características comunes, existe un amplio espectro de formas histológicas, que abarcades de casos más celulares hasta casos más fibrosos con calcificaciones. Estas diferencias podrían corresponderá diferentes estadios evolutivos de la lesión. La extirpación de la lesión conlleva la desaparición de los síntomas


Meningioangiomatosis (MA) is a rare benign intracraneal lesion. The majority of cases are sporadicalthough the association of this lesion with familial neurofibromatosis (NF) type 2 is well known. NF-associated MA may be multifocal and is often asymptomatic and diagnosed at autopsy. Non-associated cases are usually symptomatic, occurs in children and young adults and frequently arise in leptomeninges and underlying cerebral cortex. In the present work, we describe two new non-associated cases of MA in two boys, seven and one year old with seizures that disappeared after surgical excision. Histopathologically, the lesion was predominantly cellular in one case and more fibrous in the other. From the literature review we concluded that sporadic cases present as single lesions which manifest by seizures or persistent headaches. Rarely MA has been described to coexist with meningiomas. Histopathologically, MA is characterized by a plaque-like proliferation of meningothelial and fibroblast-like cells surrounding small vessels and trapping islands of gliotic cortical tissue. The lesion does not show significant a typia, mitosis or necrosis. Although all cases of MA share unifying features, there are different degrees of histological presentation with cases predominantly cellular and others more fibrous and calcified. This could correspond to different stages in the evolution of the MA. Symptoms disappear with the complete excision of the lesion


Subject(s)
Male , Female , Infant , Child , Adolescent , Adult , Middle Aged , Aged , Humans , Angiomatosis/diagnosis , Meningioma/diagnosis , Meningeal Neoplasms/diagnosis , Meningeal Neoplasms/etiology , Meningeal Neoplasms/pathology , Angiomatosis/pathology , Angiomatosis/etiology , Meningioma/etiology , Meningioma/pathology , Neurofibromatosis 2/complications , Review
9.
Neurocirugia (Astur) ; 16(6): 518-22, 2005 Dec.
Article in English | MEDLINE | ID: mdl-16378134

ABSTRACT

Xanthogranulomas of the choroids plexus (XG) are benign tumours of debatable etiology which become rarely symptomatic. Only few cases have been studied with MRI. A new case of xanthogranuloma of the third ventricle showing unusual features in the CT and MRI studies in a 47-year-old man with a 2-month history of gait and urinary disturbances and cognitive impairment is reported. The literature concerning clinical and neuroradiological presentation of intracranial xanthogranulomas is reviewed.


Subject(s)
Choroid Plexus Neoplasms/diagnosis , Choroid Plexus/pathology , Granuloma/diagnosis , Third Ventricle/anatomy & histology , Xanthomatosis/diagnosis , Choroid Plexus Neoplasms/pathology , Choroid Plexus Neoplasms/surgery , Granuloma/pathology , Granuloma/surgery , Humans , Male , Middle Aged , Review Literature as Topic , Third Ventricle/pathology , Treatment Outcome , Xanthomatosis/pathology , Xanthomatosis/surgery
10.
Neurocir. - Soc. Luso-Esp. Neurocir ; 16(6): 517-522, dic. 2005. ilus, tab
Article in En | IBECS | ID: ibc-045376

ABSTRACT

El xanto granuloma del plexo coroideo es un tumor benigno de etiología desconocida que raramente produce síntomas. Su comportamiento en los estudios de resonancia magnética se ha descrito en pocas ocasiones y no está bien definido. Presentamos un nuevo caso dexanto granuloma del tercer ventriculo con características atípicas en los estudios de CT y RM craneal en un paciente de 47 años y una clínica de 2 meses de evolución de alteración de la marcha y deterioro cognitivo. Igualmente, se revisa la literatura existente respecto a la presentación clínica y radiológica de estos tumores


Xanthogranulomas of the choroids plexus (XG) are benign tumours of debatable etiology which become rarely symptomatic. Only few cases have been studied with MRI. A new case of xanthogranuloma of the third ventricle showing unusual features in the CT and MRI studies in a 47-year-old man with a 2-month history of gait and urinary disturbances and cognitive impairment is reported. The literature concerning clinical and neuroradiological presentation of intracranialxantho granulomas is reviewed


Subject(s)
Male , Middle Aged , Humans , Choroid Plexus/pathology , Granuloma/diagnosis , Third Ventricle/anatomy & histology , Xanthomatosis/diagnosis , Choroid Plexus Neoplasms/diagnosis , Granuloma/pathology , Granuloma/surgery , Review , Third Ventricle/pathology , Treatment Outcome , Xanthomatosis/pathology , Xanthomatosis/surgery , Choroid Plexus Neoplasms/pathology , Choroid Plexus Neoplasms/surgery
12.
Histopathology ; 46(2): 184-94, 2005 Feb.
Article in English | MEDLINE | ID: mdl-15693891

ABSTRACT

AIMS: To investigate the p53 pathway in meningeal haemangiopericytomas (MHPCs), p14/ARF, p53 protein expression and two wild-type (wt) p53-induced proteins (HDM2 and p21/WAF1) were studied in 18 MHPCs, 11 primary, four of them recurrent on one, one, two and four occasions. METHODS: Immunohistochemical detection of p14/ARF, p53, p21/WAF1, HDM2 and Ki67 proliferative index (PI) protein expression. RESULTS: Ki67 index was > 5% in eight out 18 cases (44.4%). The PI in recurrent cases increased with neoplastic progression. Simultaneous p53 and wt p53 transactivated gene (p21/WAF, HDM2) expression occurred in all cases. This argues against p53 mutation. HDM2 overexpression was observed in 10 cases (55.5%). Double-immunofluorescence staining and laser scanning confocal microscopy (LSCM) displayed HDM2 and p53 colocalization. This strongly suggests that HDM2 binds and inactivates p53 that could be pathogenic for MHPCs, by a different mechanism than point mutation. p14/ARF expression > 5% was observed in 12 cases (66.6%). A normal (diffuse) pattern of expression was seen in 13 cases (72.2%). Focal loss of expression was observed in five patients (27.7%): three primary cases and two recurrences. Therefore, p14/ARF down-regulation may also contribute to the development of MHPC. CONCLUSION: HDM2 overexpression, sometimes combined with focal loss of p14/ARF expression, may play a pathogenic role in MHPCs.


Subject(s)
Hemangiopericytoma/pathology , Meningeal Neoplasms/pathology , Neoplasm Proteins/biosynthesis , Cell Cycle Proteins/analysis , Cyclin-Dependent Kinase Inhibitor p21 , Fluorescent Antibody Technique/methods , Hemangiopericytoma/metabolism , Humans , Immunohistochemistry , Ki-67 Antigen/analysis , Meningeal Neoplasms/metabolism , Microscopy, Confocal , Nuclear Proteins/biosynthesis , Proto-Oncogene Proteins/biosynthesis , Proto-Oncogene Proteins c-mdm2 , Tumor Suppressor Protein p14ARF/biosynthesis , Tumor Suppressor Protein p53/biosynthesis
13.
J Neurosurg Sci ; 48(2): 59-62, 2004 Jun.
Article in English | MEDLINE | ID: mdl-15550899

ABSTRACT

Solitary fibrous tumor (SFT) is a mesenchymal neoplasm that has been recognized to occur almost all along the organism. Since its description in 1996 at the meninges, a total of 59 cases of meningeal SFT have been reported. Different authors have emphasized the difficulties in the differential diagnosis with other more frequent meningeal neoplasms such as meningioma or hemangiopericytoma, as the clinico-radiological characteristics of this lesion seem to be non specific and the morphological features on pathological study may resemble other spindle cell neoplasms. The diffuse and strong reactivity for CD34 and the negativity for EMA and S-100 are data allowing the diagnosis of SFT. We report the case of a 50-year-old woman suffering from headache, in whom MRI study showed a tentorial lesion initially thought to be a meningioma. In spite of morphological similarities with a fibrous meningioma, inmunohistochemical study finally led to the diagnosis of SFT. As occurred in previous cases, the findings in our patient reflect the similarities in clinico-radiological and pathological characteristics between meningeal SFT and other spindle cell meningeal neoplasms, mainly fibrous meningioma. When a clear diagnosis cannot be done based on typical findings on conventional hematoxylin-eosin study, inmunohistochemical study should be performed in meningeal spindle cell lesions to exclude SFT.


Subject(s)
Dura Mater/pathology , Meningeal Neoplasms/pathology , Neoplasms, Fibrous Tissue/pathology , Cranial Fossa, Posterior , Diagnosis, Differential , Female , Headache/pathology , Humans , Magnetic Resonance Imaging , Middle Aged
14.
Neurocirugia (Astur) ; 15(4): 378-83, 2004 Aug.
Article in English | MEDLINE | ID: mdl-15368029

ABSTRACT

BACKGROUND: The concurrence of multiple sclerosis (MS) and glioma is uncommon. Approximately 30 cases have been reported, but in only six of them the tumour was pure or mixed oligodendroglioma. The appearance of new neurological symptoms and signs in a patient with multiple sclerosis is usually attributed to a relapse of this disease and neuroradiological studies are not always performed. When done, the finding of a new focal mass lesion is usually interpreted as a pseudotumoural plaque. CASE REPORT: A 37-year-old man was admitted because of partial simple seizures and an enlarging intracranial mass. He had been diagnosed of MS eleven years earlier. A MRI study performed eight years before admission showed a large mass in the right frontal lobe which was thought to be a pseudotumoural plaque. Two years later, he developed simple partial motor seizures that were initially controlled with valproic acid. He remained well until three months before admission, when seizures reappeared with a poor response to valproic acid. A new MRI study showed an heterogeneous right frontal enlarging mass lesion. A primary neoplasm was suspected and a subtotal removal was performed. The pathological diagnosis was oligodendroglioma with a periferic demyelinating area. CONCLUSION: Atypical MRI lesions in a patient with MS must be carefully interpreted. Pseudotumoural plaques have been described both clinically and radiologically to be hardly distinguishable from a tumoural lesion and histological confirmation is often required. The association between MS and glioma is uncommon but it must be kept in mind when a mass lesion develops in a patient with MS.


Subject(s)
Brain Neoplasms/complications , Frontal Lobe , Multiple Sclerosis/complications , Oligodendroglioma/complications , Adult , Brain Neoplasms/pathology , Humans , Male , Oligodendroglioma/pathology
15.
Arch Soc Esp Oftalmol ; 79(8): 401-4, 2004 Aug.
Article in Spanish | MEDLINE | ID: mdl-15306968

ABSTRACT

CASE REPORT: A 53-year old woman presented a tuberous sclerosis complex (Bourneville's disease) characterised by facial cutaneous angiofibromas, periungual fibromas and cutaneous leaf-shaped macules in the thorax. She also presented two neoplasms in the left lower eyelid which were histopathologically diagnosed as angiofibromas. There were no other ophthalmologic or systemic findings. DISCUSSION: Tuberous sclerosis complex is an autosomical dominant neurocutaneous phakomatosis in which up to 80% of cases represent new mutations, characterized by mental retardation, epilepsy and angiofibromas. Incidence is very low and ophthalmic presentation with isolated cutaneous angiofibromas is most unusual.


Subject(s)
Angiofibroma/diagnosis , Eyelid Neoplasms/diagnosis , Skin Neoplasms/diagnosis , Tuberous Sclerosis/diagnosis , Angiofibroma/surgery , Eyelid Neoplasms/surgery , Female , Humans , Middle Aged , Ophthalmologic Surgical Procedures/methods , Skin Neoplasms/surgery , Treatment Outcome , Tuberous Sclerosis/surgery
16.
Acta Neurochir (Wien) ; 146(7): 679-90, 2004 Jul.
Article in English | MEDLINE | ID: mdl-15197611

ABSTRACT

BACKGROUND: Lhermitte-Duclos Disease (LDD) is an infrequent cerebellar disorder characterized by focal or diffuse enlargement of cerebellar folia presenting as a slowly growing mass in the posterior fossa. Over the past decade its association with Cowden disease (CD) has been recognized with increasing frequency. This latter disease is a genetic condition leading to the presence of multiple hamartomas and neoplasias which affect mainly the skin, thyroid, breast and genito-urinary and gastro-intestinal tracts. It has even been hypothesized that LDD and CD constitute a single entity. This work is aimed to analyse to what extent this association was present in patients treated for LDD at our institution. METHOD: We reviewed the medical records of five patients and performed clinical studies for CD manifestations, among them, genetic investigation for PTEN mutations. The International Cowden Consortium Criteria were applied for the diagnosis of CD. FINDINGS: Four of the five patients treated for LDD were also diagnosed of CD. The genetic study found PTEN mutations in two of them. Interpretation. LDD has been found to be closely related to CD in this series, in accordance with previous literature. However, the absence of CD diagnosis in one of the patients led us to suggest that, despite the strong association between these two diseases, LDD can also appear as an isolated condition.


Subject(s)
Cerebellar Neoplasms/complications , Ganglioneuroma/complications , Hamartoma Syndrome, Multiple/complications , Adult , Cerebellar Neoplasms/diagnosis , Child , Female , Ganglioneuroma/diagnosis , Hamartoma Syndrome, Multiple/diagnosis , Hamartoma Syndrome, Multiple/genetics , Humans , Male , Middle Aged , PTEN Phosphohydrolase , Phosphoric Monoester Hydrolases/genetics , Tumor Suppressor Proteins/genetics
17.
Neurocirugia (Astur) ; 15(2): 159-64, 2004 Apr.
Article in Spanish | MEDLINE | ID: mdl-15159794

ABSTRACT

Among the group of pituitary adenomas surgically treated, about 25-30% are not associated with clinical or analytical findings of hormonal hypersecretion. The development of immunohistochemical techniques has allowed the demonstration of a subgroup of adenomas that show immunoreactivity against several hormones among the group of, apparently, non-functioning adenomas. This subgroup has been called silent adenomas. Silent adenomas positive for ACTH show a singular clinical picture and different from those adenomas producing Cushing's disease, as they present more frequently as macroadenomas, with more frequent pituitary apoplexy, invasion of cavernous or sphenoidal sinus and recurrences. We present two new cases of silent corticotroph adenomas in two female patients that presented with pituitary apoplexy, one of them after giving birth after a normal full-term pregnancy. Both of them presented with macroadenomas that invaded the sphenoidal and cavernous sinus. Although both tumors were immunoreactive for ACTH, none of the patients presented clinical or analytical findings compatible with Cushing's disease.


Subject(s)
Adenoma/complications , Pituitary Apoplexy/etiology , Pituitary Neoplasms/complications , Adenoma/diagnosis , Adenoma/metabolism , Adrenocorticotropic Hormone/metabolism , Adult , Female , Humans , Middle Aged , Pituitary Neoplasms/diagnosis , Pituitary Neoplasms/metabolism
18.
Eur J Ophthalmol ; 13(5): 482-5, 2003 Jun.
Article in English | MEDLINE | ID: mdl-12841572

ABSTRACT

PURPOSE: To report a case of congenital phakomatous choristoma (PC) of the eyelid, a rare tumor of lenticular anlage in the subcutaneous tissue and dermis. CASE: A boy had a mass in the right lower eyelid near the inner canthus at birth. At age 10 months, the tumor was excised. RESULTS: The tumor cells showed intense immunoreactivity positive for S-100 protein, vimentin, and periodic acid-Schiff. Keratin markers, epithelial membrane antigen, glial fibrillary acidic protein, muscle specific actin, and epithelial membrane antigen were negative. The histopathologic features were consistent with those of a PC. CONCLUSIONS: This histopathologic and immunoreactivity study supports the proposal that PC is a rare entity of lenticular anlage origin. Only 18 such cases have been described previously.


Subject(s)
Choristoma/pathology , Eyelid Diseases/pathology , Lens, Crystalline , Biomarkers/analysis , Choristoma/metabolism , Choristoma/surgery , Eye Proteins/metabolism , Eyelid Diseases/metabolism , Eyelid Diseases/surgery , Humans , Infant, Newborn , Male
19.
Neuromuscul Disord ; 13(5): 416-20, 2003 Jun.
Article in English | MEDLINE | ID: mdl-12798797

ABSTRACT

We studied two patients with ragged-red fibers and combined defects of the mitochondrial respiratory chain in their muscle biopsy. One had mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, and harbored a T3258C transition in the tRNA(Leu(UUR)) gene. The other showed myopathy plus cardiomyopathy and had an A3280G mutation in the same gene. Both mutations were heteroplasmic, abundant in muscle of the patients, less abundant in blood, and still less abundant in blood from their maternal relatives. In both patients, single muscle fiber analysis revealed greater abundance of mutant genomes in ragged-red fibers than in normal fibers, supporting the pathogenicity of both mutations.


Subject(s)
DNA, Mitochondrial/genetics , Muscle, Skeletal/pathology , Muscular Diseases/genetics , Mutation , Myocardium/pathology , RNA, Transfer, Leu/genetics , Acidosis, Lactic/genetics , Adenine , Adult , Biopsy , Cardiomyopathies/genetics , Cytosine , Female , Guanine , Humans , Male , Mitochondrial Encephalomyopathies/genetics , Phenotype , Polymorphism, Genetic , Stroke/genetics , Thymine
20.
Skeletal Radiol ; 32(3): 151-5, 2003 Mar.
Article in English | MEDLINE | ID: mdl-12605280

ABSTRACT

Giant cell reparative granuloma (GCRG) is a non-neoplastic fibrous lesion with unevenly distributed multinucleated giant cells, areas of osseous metaplasia and hemorrhage. The small bones of the hands and feet are the most common sites, followed by the vertebral bodies and craniofacial bones. In the craniofacial bones GCRG has been reported in the temporal bone, in the frontal bone and paranasal sinus. However, to the best of our knowledge no case has been reported in the occipital bone. We report on the imaging findings and pathological features of a GCRG of the occipital bone and discuss the differential diagnosis of this entity in this particular location, especially with giant cell tumor because of the therapeutic and prognostic implications.


Subject(s)
Bone Diseases/diagnosis , Granuloma, Giant Cell/diagnosis , Occipital Bone/pathology , Bone Diseases/epidemiology , Bone Diseases/pathology , Granuloma, Giant Cell/epidemiology , Granuloma, Giant Cell/pathology , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Tomography, X-Ray Computed
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