ABSTRACT
Spinal epidural cavernous angiomas are rare vascular malformations that exceptionally present with dumbbell-shape morphology. When it happens, preoperative misdiagnosis is the rule, because the clinicoradiological picture is quite similar to the nerve sheath tumours one. Spinal epidural cavernomas complete resection can be achieved with surgical treatment and scarcely morbi-mortality, and excellent outcome can be expected. We report a case of a 57 year-old woman carrying a dumbbell-shaped epidural cavernoma located at C7 and D1 levels that was surgically removed. Special diagnostic features of this kind of lesions are discussed and treatment options currently available are reviewed.
Subject(s)
Epidural Neoplasms/diagnosis , Epidural Neoplasms/pathology , Hemangioma, Cavernous/diagnosis , Hemangioma, Cavernous/pathology , Spine/pathology , Cervical Vertebrae , Epidural Neoplasms/surgery , Female , Hemangioma, Cavernous/surgery , Humans , Middle Aged , Spine/surgery , Thoracic Vertebrae , Treatment OutcomeABSTRACT
Los cavernomas raquídeos epidurales son malformaciones vasculares muy poco frecuentes que, excepcionalmente, pueden adquirir una morfología en reloj de arena. En estos casos, el diagnóstico preoperatorio es habitualmente erróneo debido a su similitud clínico radiológica con los tumores de la vaina nerviosa. Con el tratamiento quirúrgico se puede realizar una extirpación completa de estas lesiones sin apenas morbimortalidad, y conseguir en consecuencia un excelente pronóstico .Se presenta el caso de una mujer de 57 años a quien se le extirpó quirúrgicamente un cavernoma epidural en reloj de arena localizado en los segmentos C7 y D1.Se discuten las peculiaridades diagnósticas de este tipo de lesiones y se revisan las opciones terapéuticas disponibles en la actualidad
Spinal epidural cavernous angiomas are rare vascular malformations that exceptionally present with dumbbell-shape morphology. When it happens, preoperative is diagnosis is the rule, because the clinic radiological picture is quite similar to the nerve sheath tumours one. Spinal epidural cavernomas complete resection can be achieved with surgical treatment and scarcely morbi-mortality, and excellent outcome can be expected. We report a case of a 57 year-old womancarrying a dumbbell-shaped epidural cavernoma located at C7 and D1 levels that was surgically removed. Special diagnostic features of this kind of lesions are discussed and treatment options currently available are reviewed
Subject(s)
Humans , Female , Middle Aged , Hemangioma, Cavernous/surgery , Epidural Space/pathology , Neurilemmoma/diagnosis , Diagnosis, DifferentialABSTRACT
En este trabajo se intenta demostrar la eficacia o inocuidad de la quimionucleolisis en el tratamiento de la hernia discal como alternativa a la cirugía convencional. Para ello se seleccionó un grupo de 91 pacientes a los cuales se aplica dicha técnica, consistente en la inyección bajo control radiológico y mediante punción intradiscal, del enzima quiomiopapaína en el núcleo pulposo, con el fin de conseguir la disolución química del mismo. Se valora la respuesta clínica al tratamiento, así como radiológica, al mes a los 6 meses del mismo, practicándose radiografía de columna vertebral para valorar las curvas de presión intradiscales. De los 91 pacientes seleccionados, se obtuvieron resultados excelentes en 25 casos (29.41 por ciento), Buenos en 37 casos (43.52 por ciento), aceptables en 11 casos (12.94 por ciento), malos en 5 casos (5.88 por ciento), apreciándose correlación entre la disminución del volumen intradiscal y los resultados clínicos obtenidos.
Subject(s)
Male , Adult , Humans , Female , Middle Aged , Intervertebral Disc Chemolysis , Intervertebral Disc , Intervertebral Disc Displacement , Costa RicaABSTRACT
Seven cases of spinal hydatid disease treated with posterior decompression were followed-up for an average of 20 years. The long-term results were very poor, with high rates of mortality, localised and extra-vertebral recurrence, significant neurological deficits, spino-cutaneous fistulae, spinal instability and pain.
Subject(s)
Echinococcosis/surgery , Spinal Diseases/surgery , Adolescent , Adult , Decompression, Surgical , Echinococcosis/diagnosis , Female , Humans , Magnetic Resonance Imaging/methods , Male , Prognosis , Spain , Spinal Diseases/diagnosis , Spinal Diseases/parasitology , Tomography, X-Ray Computed , Treatment OutcomeABSTRACT
The p73 gene has been mapped to 1p36.33, a chromosome region that is frequently deleted in a wide variety of neoplasms including meningiomas. The protein encoded by p73 shows structural and functional similarities to p53 and may thus represent a candidate tumor suppressor gene. To determine whether p73 is involved in the development of meningiomas, we examined 30 meningioma samples with proven 1p deletion for mutations of p73. Sequence analysis of the entire coding region of the p73 gene revealed previously reported polymorphisms in eight cases. A tumor-specific missense mutation as a result of an A-to-G transition with an Asn204Ser change was found in one meningioma that nevertheless retained the normal allele. These results suggest that if p73 plays a role in meningioma carcinogenesis, it must be in a manner different from the Knudson two-hit model.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 1 , DNA-Binding Proteins/genetics , Genes, Tumor Suppressor , Meningeal Neoplasms/genetics , Meningioma/genetics , Nuclear Proteins/genetics , Humans , Tumor Protein p73 , Tumor Suppressor ProteinsABSTRACT
The hRAD54 protein belongs to a superfamily of DNA helicases, and mutations in genes with DNA helicase function have been found to be responsible for cancer-prone syndromes (xeroderma pigmentosum, Bloom syndrome, Werner syndrome). hRAD54 thus could be a candidate modifier gene in tumors characterized by allelic imbalance at 1p32, the chromosome region in which this gene is located. Using a panel of 38 1p and five 1q markers, we therefore performed deletion-mapping analysis on a series of 35 oligodendrogliomas, which were also studied for mutations in the hRAD54 gene. Deletions of the short arm of chromosome 1 were evidenced in 26 tumors, mostly involving 1p36-1p13; all thus displayed loss of the 1p32 region. We used PCR/SSCP to examine all 18 exons of the hRAD54 gene for mutations in 25 tumors, but the mobility shifts detected corresponded to previously identified polymorphic changes: T-to-C transition at nucleotide 2865 (with no amino acid change) and at nucleotide 3008, at the 3' untranslated region. We conclude that hRAD54 gene alterations are not required for malignant transformation of oligodendrogliomas.
Subject(s)
Chromosome Mapping , Chromosomes, Human, Pair 1/genetics , DNA Helicases/genetics , DNA, Neoplasm/genetics , Nuclear Proteins/genetics , Oligodendroglioma/genetics , Chromosome Deletion , DNA Mutational Analysis , DNA-Binding Proteins , Gene Deletion , Humans , Loss of Heterozygosity , Polymorphism, Single-Stranded ConformationalABSTRACT
Von Hippel-Lindau (VHL) disease is characterized by a high predisposition to develop retinal angiomas, hemangioblastomas of the central nervous systems, renal cysts and renal carcinomas, pheochromocytomas, pancreatic cysts, and cystadenomas of the epididymis. The VHL gene was isolated in 1993; this fact allows to carry out presymptomatic diagnostic of this disease. We report on the case of patient with the suspicious++ and of hereditary VHL, although she had not familial history. By means of sequence the VHL gene was studied a mutation in exon 2 (GTT130CTT) that results in an amino acid change was found. This mutation could not be detected in her parents, pointing out that this is a de novo case. Patient has two sons, of 18 and 13 years old. The genetic analysis of the youngest showed that he was not a mutation carrier; while the eldest denied to be explored. The genetic study allows, in cases without familial history, to determine if they have the hereditary form of the disease and to study the siblings periodically until the beginning of the disease.
Subject(s)
Point Mutation/genetics , von Hippel-Lindau Disease/diagnosis , von Hippel-Lindau Disease/genetics , Adult , DNA Mutational Analysis , Exons , Female , Humans , Polymerase Chain Reaction/methods , Polymorphism, Genetic , Severity of Illness IndexABSTRACT
INTRODUCTION: Clinical, microbiological, therapeutic and prognostic characteristics of brain abscesses were analyzed as well as the influence of CT in their evolution. MATERIALS AND METHODS: Retrospective study of 59 patients with the diagnosis of brain abscess of bacterial source before (group A) and after (group B) the introduction of CT (25 and 34 patients, respectively). RESULTS: The most common symptom was headache (76.3%) and the most common abnormality in physical examination was a decrease in the level of consciousness (61%) and this abnormality was associated with a higher mortality rate (13% versus 41.6%; p < 0.05) and also a higher proportion of neurologic sequelae (50% versus 85.7%; p < 0.05). The diagnosis was obtained earlier in group B. The hematogenous source predominated (32.2%); an adjacent source was identified in 28.8% and an apparent source was not recognized in 27.2% (40% in group A versus 17.6% in group B). Anaerobic and microaerophilic streptococci were the bacteria recovered most frequently. Gram-negative aerobic bacteria were the most common in otogenic abscesses. The use of corticosteroids had no influence upon mortality, but it was associated with a lower percentage of neurological sequelae (40% versus 14%; p < 0.05). The introduction of CT decreased mortality (40% in group A versus 23.5% in group B, although this difference was not significant) and also sequelae (86.6% in group A versus 57.6% in group B; p < 0.05). Leaving apart cases of bacterial endocarditis, in which death was due to the underlying heart disease and a systemic sepsis picture, mortality attributed to brain abscess was 20.3%. CONCLUSIONS: The introduction of CT has meant a significant breakthrough for the diagnosis, treatment and follow-up of these patients and has contributed to improvement in survival. In our series, the diagnosis of brain abscess was obtained earlier and the number of brain abscesses with no apparent source has decreased since the introduction of CT. Moreover, CT sensitivity is really good for locating multiple abscesses. Overall, the prognosis of these patients has improved since the introduction of this technique. Nevertheless, brain abscess is still associated with a relevant morbi-mortality rate.
Subject(s)
Brain Abscess/diagnosis , Brain Abscess/therapy , Adrenal Cortex Hormones/therapeutic use , Adult , Aged , Anti-Bacterial Agents/therapeutic use , Brain Abscess/microbiology , Brain Abscess/mortality , Drainage , Female , Humans , Male , Middle Aged , Prognosis , Retrospective Studies , Tomography, X-Ray ComputedABSTRACT
Cerebral cysticercosis is an endemic parasitosis in many developing countries with a great variability in its presentation and prognosis. In the last 37 years (1960-1996) we have studied 18 patients at Fundación Jiménez Díaz. Sixteen were spanish; ten of them (62.5%) came from rural areas and they all were seen before 1988. Ten patients (56%) were males and seven (44%) females. The mean age was 49 years (range: 22-80). The most common symptoms at diagnosis were: seizures (61%), headache (55%), visual disturbances (39%), symptoms of intracranial hypertension (33%), mental disturbances (33%) and other focal symptoms (33%). CT and NMR showed changes in all cases, and hydrocephalia, presence of brain calcifications and ventricular or subarachnoidal parenchymal cysts were the most common findings. Three patients received antiparasitic therapy (praziquantel and albendazol), two of them associated with surgery. The most common surgical procedure was cyst exeresis and ventriculo-peritoneal shunts. The evolution was favorable in 90% of cases.
Subject(s)
Brain Diseases/diagnosis , Cysticercosis/diagnosis , Adult , Aged , Aged, 80 and over , Brain Diseases/etiology , Calcinosis/diagnosis , Calcinosis/etiology , Cysticercosis/etiology , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Seizures/etiology , Tomography, X-Ray ComputedABSTRACT
INTRODUCTION: Paget's disease is a frequent metabolic disease. It is usually diagnosed as a accidental finding. Initial symptoms usually consist of generalized pain in bones. When it affects the Central Nervous System, symptoms usually appear in advanced cases and are due mainly to compression of the spinal cord. Neurological problems as the first manifestation of the disease are exceptionally found. CLINICAL CASE: We report the case of a woman affected by Paget's disease who presented as a triventricular obstructive hydrocephalus. The patient was 72 years old and consulted first to the emergency ward due to headache, gait disorders and cognitive abnormalities. COMMENTS: The most remarkable data about this patient are the indolent course of the disease which caused its debut as hydrocephalus associated to basilar impression, its favourable evolution after ventricular drainage and the almost absolute absence of previous similar cases reported in literature all over the last years.
Subject(s)
Osteitis Deformans/diagnosis , Aged , Cranial Fossa, Posterior/abnormalities , Female , Humans , Hydrocephalus/complications , Hydrocephalus/diagnosis , Magnetic Resonance Imaging , Movement Disorders/complications , Osteitis Deformans/complications , Radiography , Skull/diagnostic imagingABSTRACT
In this paper we investigate the distribution of DNA ploidy as well as proliferation rate (S phase of the cell cycle Ki-67 staining) in 281 tumors of the central and peripheral nervous system (87 meningiomas, 75 astrocytomas, 44 nerve sheath tumors, 25 brain metastases, 18 pituitary adenomas, 17 ependymomas, 12 oligodendrogliomas and 3 medulloblastomas) and their correlation with the histopathological grade. Considering all 281 tumors, aneuploidy is the most frequent finding present: 52%. This percentage increases with malignancy: 69% of malignant tumors are aneuploidy. Levels of aneuploidy decrease from brain metastases to pituitary adenoma (92% in brain metastases, 83% in oligodendrogliomas, 59% in nerve sheath tumors, 47% in ependymomas, 40% in astrocytomas, 35% in meningiomas and 33% in pituitary adenomas), but aneuploidy is also found in many benign tumors. With respect to proliferation rate of tumors, S phase above 20% were recorded in the more malignant tumors: brain metastases, oligodendrogliomas, high-grade ependymomas, high grade astrocytomas, and in atypical and malignant meningiomas, but this parameter is not able to distinguish between low and high grade tumors. However, Ki-67 reactivity was equivalent in all histologies with significant differences between low and high grade tumors.
Subject(s)
Brain Neoplasms/genetics , DNA, Neoplasm/genetics , Ploidies , Adenoma/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Brain Neoplasms/secondary , Cell Division , Child , Child, Preschool , Flow Cytometry , Glioma/genetics , Humans , Meningeal Neoplasms/genetics , Meningioma/genetics , Middle Aged , Nerve Sheath Neoplasms/genetics , Pituitary Neoplasms/genetics , Predictive Value of Tests , PrognosisABSTRACT
The authors report a case of a spinal intrathecal empyema caused by Actinomyces israelii in a patient who had been diagnosed, four years previously, of a left petrous apex abscess due to an unknown microorganism. The clinical course is outlined and the possibility of both lesions being related is discussed.