M. Gutiérrez-Molina

Tumor fibroso solitario meníngeo: descripción de tres casos y revisión de la literatura

Resumen Presentamos 3 pacientes con tumor fibroso solitario de localizacion meningea donde describimos el estudio histologico, asi como la evolucion despues del tratamiento quirurgico. Los pacientes descritos tenian edades de 37, 52 y 65 anos y tras la reseccion total no se ha objetivado signo de recidiva en ningun caso despues de 4, 6 y 7 anos de seguimiento respectivamente. Revisando la literatura se trata de un tumor indistinguible clinica y radiologicamente del meningioma tipico, haciendo necesario el uso de pruebas inmunohistoquimicas para realizar el diagnostico diferencial, donde la positividad para el CD34 y la negatividad para el EMA definen al tumor fibroso solitario. Se trata de un tumor benigno, en el que la reseccion total es el principal factor pronostico; no obstante, se han descrito casos de recidivas locales y metastasis a distancia. Todas estas caracteristicas las encontramos en los casos presentados en el presente trabajo, quedando la incertidumbre de su capacidad de recidiva local o sistemica en el futuro.

Subependymal giant cell astrocytoma in tuberous sclerosis complex. A presentation of eight paediatric patients

OBJECTIVE Presentation of 8 patients with subependymal giant-cell astrocytomas (SGCA) associated with tuberous sclerosis complex (TSC). MATERIAL AND METHODS There are 8 patients, 6 males and 2 females with TSC, who presented with the tumour between the neonatal period and 24 years. RESULTS All patients showed bilateral hypersignalised areas in zones close to the foramen of Monro. Three of the patients were admitted urgently due to blindness and increased intracranial pressure. Incomplete removal of the tumour has always been bad solution as it resulted in the death of the patient (in one case) or further surgery operation in the short term. Only one patient developed the tumour suddenly from pre-existing subependymal nodules from the childhood and they had to be removed at 24 years of age. By contrast, 32 patients with TSC and images of subependymal nodules whose CT or MR progress was followed up for between 10 and 30 years did not develop a tumour. One patient had to be operated four times over 20 years. CONCLUSIONS SGCA associated with TSC is a severe complication which as likely to develop and careful monitoring is required from neonatal age with periodicclinical and imaging studies in order to avoid its irreversible complications. Hydrocephaly, blindness and even the death can be the main consequences. Reintervention of the recurrent tumour is often necessary.

Importancia del tamaño de las tuberosidades en las complicaciones del complejo esclerosis tuberosa

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 diseases 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.

Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation

Early-onset hereditary motor and sensory neuropathies are rare diseases representing a broad clinical and genetic spectrum. Without a notable familial history, the clinical diagnosis is complicated because acquired causes of peripheral neuropathy, such as inflammatory neuropathies, neuropathies with toxic causes, and nutritional deficiencies, must be considered. We examined the clinical, electrophysiological, and pathologic manifestations of a boy with an initial diagnosis of chronic inflammatory demyelinating polyneuropathy. The progression of the disease despite treatment led to a suspicion of hereditary motor and sensory neuropathy. Genetic testing revealed the presence of the MPZ p.D90E mutation in heterozygosis. To clarify the pathogenicity of this mutation and achieve a conclusive diagnosis, we investigated the MPZ p.D90E mutation through in silico and cellular approaches. This study broadens the clinical phenotype of hereditary motor and sensory neuropathy due to MPZ mutation and emphasises the difficulty of achieving an accurate genetic diagnosis in a sporadic patient to provide an appropriate pharmacologic treatment.