RESUMEN

Background: The prevalence of thyrotropin-secreting pituitary adenomas, most being macroadenomas, is one to two cases per million inhabitants. Their differential diagnosis may be challenging, especially for microadenomas. Case description: We present the case of a 50-year-old male with progressive neck enlargement, hot sudorific hands, anorexia, diarrhea, and weight loss over the preceding three months. Laboratory evaluation revealed high thyroid hormones, predominantly high free triiodothyronine of 7.74 pg/mL (reference range 2.3-4.2), with a non-suppressed thyroid stimulating hormone (TSH) of 1.73 µIU/mL (reference range 0.55-4.78). A high level of suspicion directed additional evaluation that revealed a high total alpha-subunit of glycoprotein hormones (αGS) and αGS/TSH ratio. Magnetic resonance imaging revealed a six mm pituitary lesion. A microthyrotropinoma was diagnosed, and long-acting octreotide was initiated before surgery for symptomatic control. Endoscopic transnasal transsphenoidal tumor resection was performed months later. The patient was in remission one year after surgery with no pituitary deficits. Conclusions: Reaching an accurate diagnosis on time is crucial for deciding the optimal therapeutic approach and preventing and decreasing the frequency of endocrine and neurological complications. HIPPOKRATIA 2022, 26 (4):157-160.

RESUMEN

Disorders of sex development generally present in the neonatal period with ambiguity of external genitalia. We report a very old male patient presenting at 75 years because of panhypopituitarism and a large nonsecreting pituitary macroadenoma secondary to long-standing primary hypogonadism due to 46,XX sex reversal disorder now first diagnosed. Sex development disorders may go unrecognised for the entire life span, despite infertility and long-standing primary gonadic failure may lead to uncommon complications.

Asunto(s)

Trastornos Testiculares del Desarrollo Sexual 46, XX/diagnóstico , Hipogonadismo/diagnóstico , Hipopituitarismo/diagnóstico , Neoplasias Hipofisarias/diagnóstico , Anciano , Humanos , Masculino

RESUMEN

OBJECTIVE: Papillary glioneuronal tumors (PGNT) is well-recognized in the literature, although reports usually have not attempted a critical analysis of their characteristics. We report two PGNT and perform a comprehensive review of the published cases, aiming to clarify their clinical, imaging and histopathological features. MATERIAL AND METHODS: We have reviewed all glioneuronal tumors diagnosed in our laboratory over the last 10 years and found 2 cases PGNTs along with their clinical, imaging and surgical data. We have processed material for light microscopy, and for immunohistochemistry study, we have used antisera against glial fibrillary acidic protein, Olig-2C, neurofilament protein, synaptophysin and Ki-67. We searched Medline (1966 through October 2007) for original articles or previous reviews. RESULTS: Case 1, a 19-year-old girl with a left, partially cystic, occipital tumor, totally removed, with no signs of recurrence 32 months after surgery, Case 2, a 9-year-old girl with a right, cystic with a solid nodule, temporal tumor, totally removed, with no signs of recurrence 19 months after surgery. Histopathology and immunohistochemistry studies favored a diagnosis of PGNT. A survey of 38 reported PGNT cases together with our two disclosed the following typical profile: young adulthood predominance, temporal lobe location, presence of cystic components: a close association with the lateral ventricles, a few anaplastic tumors, and gross total resections were usually possible with no recurrences the extent of surgical removal being the main prognostic factor. CONCLUSIONS: Although histopathology is usually characteristic, imaging features may also be important in the presurgical evaluation of PGNTs. Gross total resections are usually possible and seem to govern prognosis. However, longer follow-up data are required.

Asunto(s)

Neoplasias Encefálicas/patología , Ganglioglioma/patología , Adulto , Neoplasias Encefálicas/cirugía , Niño , Femenino , Humanos , Imagen por Resonancia Magnética , Pronóstico

RESUMEN

Gangliogliomas are glioneuronal tumours of the young, and occur more frequently supratentorially. Among those uncommon cases in the spinal cord, the conus medullaris is an extremely rare site. We reviewed the literature of such cases and report another case of a ganglioglioma of the conus in a 13-year-old boy with an insidious sensory sensitive and motor deficit of the right lower limb. Subtotal resection was accomplished with no recurrence after two years of follow-up. As for the supratentorial locations, the extent of surgical resection is the main prognostic factor for gangliogliomas of the spinal cord, and they should be considered in the differential diagnosis of intramedullar neoplasm.

Asunto(s)

Ganglioglioma/patología , Compresión de la Médula Espinal/etiología , Compresión de la Médula Espinal/patología , Médula Espinal/patología , Neoplasias de la Columna Vertebral/patología , Adolescente , Adulto , Niño , Preescolar , Descompresión Quirúrgica , Diagnóstico Diferencial , Progresión de la Enfermedad , Femenino , Ganglioglioma/fisiopatología , Humanos , Pierna/inervación , Pierna/fisiopatología , Vértebras Lumbares/anatomía & histología , Vértebras Lumbares/cirugía , Masculino , Persona de Mediana Edad , Debilidad Muscular/etiología , Debilidad Muscular/fisiopatología , Procedimientos Neuroquirúrgicos , Paresia/etiología , Paresia/fisiopatología , Pronóstico , Trastornos de la Sensación/etiología , Trastornos de la Sensación/fisiopatología , Médula Espinal/fisiopatología , Médula Espinal/cirugía , Compresión de la Médula Espinal/fisiopatología , Neoplasias de la Columna Vertebral/fisiopatología , Resultado del Tratamiento

RESUMEN

The purpose of the present paper is to analyze the most recent advances in the field of craniosynostosis basic and clinical research and management, and to give an overview of the more frequently adopted surgical strategies. After reviewing some basic concepts regarding normal craniofacial embryology and growth, aetiopathogenesis of craniosynostosis and craniofacial dysostosis, classification and diagnosis and historical evolution of surgical treatment, the authors elaborate on a selection of topics that have modified our current understanding of and therapeutical approach to these disease processes. Areas covered include advances in molecular biology and genetics, imaging techniques and surgical planning, resorbable fixation technology, bone substitutes and tissue engineering, distraction osteogenesis and the spring-mediated cranioplasties, resorbable distractor devices, minimally invasive surgery and in utero surgery. A review of the main subtypes of craniosynostosis and craniofacial dysostosis is presented, including their specific clinical features and a commentary on the presently available surgical options.

Asunto(s)

Craneosinostosis/cirugía , Craneosinostosis/complicaciones , Craneosinostosis/etiología , Craneosinostosis/historia , Historia del Siglo XVI , Historia del Siglo XX , Historia Antigua , Humanos , Investigación , Cirugía Plástica/tendencias

RESUMEN

Benign fibrous histiocytomas (BFHs) are tumors with fibroblastic and histiocytic components without histological anaplasia. Intracerebral lesions are exceptional and to our knowledge a spinal location was not yet described. We describe 2 cases of BFHs of the neural axis: the first, a 22-month-old boy with Down's syndrome, presented with a paraparesis and the magnetic resonance (MR) of the spine disclosed an intradural extramedullary, thoracic mass, totally resected; the second, a 13-year-old boy with left partial motor seizures, in whom the MR of the brain showed an intracerebral, right frontal tumor, also surgically removed. Both patients are free of recurrence, 6 years and 15 months after surgery, respectively. Histological examination and immunoreactivity for vimentin and histiocytic markers favored the diagnosis of BFH. It is likely that these tumors may originate from spinal dura mater mesenchymal stem cells and from the intracerebral perivascular pial sheath or the brain vessel walls themselves, respectively. Other benign, isolated, intracranial fibrohistiocytic neoplasms, namely the juvenile xanthogranuloma, can harbor a clinical, morphological and immunohistochemical profile overlapping the one of the BFH. Intracranial germ cell tumors may be associated with Down's syndrome, although harboring an unusual, non-pineal and non-chiasmatic location. One can speculate that a similar, still unknown genetic mechanism responsible for this association, could also induce the growth of other type of tumors in patients with this syndrome. BFHs should be added to the differential diagnosis of intracerebral or spinal dural attached tumors. Furthermore, we propose to name these intracranial tumors "benign isolated fibrohistiocytic tumors of the CNS".

Asunto(s)

Biomarcadores de Tumor , Neoplasias Encefálicas/patología , Histiocitoma Fibroso Benigno/patología , Neoplasias de la Médula Espinal/patología , Adolescente , Neoplasias Encefálicas/metabolismo , Diagnóstico Diferencial , Síndrome de Down/patología , Histiocitoma Fibroso Benigno/metabolismo , Humanos , Inmunohistoquímica , Lactante , Masculino , Neoplasias de la Médula Espinal/metabolismo , Vértebras Torácicas/patología

RESUMEN

Ependymomas account for 3 to 9% of all neuroepithelial tumors and, although occurring most often within the ventricular system, they may arise from the extraventricular parenchyma as well. Several histologic patterns of these neoplasm are well known, but little attention has been devoted to a variant composed of giant elements. We describe the case of a 13-year-old girl experiencing a 3-month history of partial seizures in whom cranial magnetic resonance imaging showed an extraventricular, right parietotemporal neoplasm, adherent to the overlying dura mater. Histologic, immunohistochemical and ultrastructural findings were consistent with those of a high-grade ependymoma. The tumor was characterized by the presence of a major component of pleomorphic giant cells, as also seen in pleomorphic xantoastrocytoma, subependymal giant cell astrocytoma and glioblastoma multiforme. Similar elements have been described in two filum terminale and one supratentorial, intraventricular ependymoma, respectively. Histologic and evolutional data of those and of our own case suggest that isolated giant cells are not necessarily linked to a bad prognosis in ependymomas.

Asunto(s)

Carcinoma de Células Gigantes/patología , Ependimoma/patología , Neoplasias Supratentoriales/patología , Adolescente , Encéfalo/patología , Química Encefálica , Carcinoma de Células Gigantes/ultraestructura , Ependimoma/ultraestructura , Femenino , Proteína Ácida Fibrilar de la Glía/análisis , Humanos , Microscopía Electrónica , Neoplasias Supratentoriales/ultraestructura

RESUMEN

Reflex sympathetic dystrophy (RSD) is a syndrome characterised by severe distal pain and vasomotor changes. It is believed to be caused by sympathetic nervous system overactivity. Trauma is the most frequent precipitant event. An association with amyotrophic lateral sclerosis (ALS) has been reported only once. We report three patients with ALS in whom the occurrence of RSD, in one of them at a very early clinical stage, seemed to have precipitated a more rapid clinical evolution. New sprouting re-innervating fibres have abnormal ion channels which might increase the risk of RSD. On the other hand, motor changes have been described in RSD, as well as motor strength improvement after RSD treatment. The complex relation of ALS with RSD is discussed. In all ALS patients pain followed by further loss of function should prompt a search for RSD.

Asunto(s)

Esclerosis Amiotrófica Lateral , Distrofia Simpática Refleja/complicaciones , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Distrofia Simpática Refleja/fisiopatología

RESUMEN

Corpus callosotomy was reported for the first time by Dandy in 1922 and developed by Van Wagenen and Herren in 1940, but only Wilson in 1975 started performing it with a microsurgical technique. Its indications have remained controversial for a long time, but during the last years new interest has been raised concerning callosotomy as a treatment for some kinds of generalized epilepsy or as route to the anterior ventricular system. The microsurgical anatomy of the corpus callosum has therefore regained interest. With this goal in mind, the authors studied some aspects of the microsurgical anatomy of the corpus callosum, namely its dimensions, variability and topography, as well as the transcallosal access to the deep interfrontal region and to the third ventricle. This study was carried out on 30 normal adult brains, obtained from routine autopsies, that were submitted to a special preparation procedure and dissected with microsurgical technique. The main aspects of the operating features, the measurements made and the variation in the different parameters are described. Some references are proposed respecting the extent of anterior partial and subtotal callosotomy.

Asunto(s)

Cuerpo Calloso/anatomía & histología , Cuerpo Calloso/cirugía , Adulto , Cadáver , Humanos , Microcirugia

RESUMEN

Four different approach routes have been used to perform the selective amygdalohippocampectomy for the surgical treatment of epilepsy: transcortical through the middle T2 gyrus [1], translyvian through the deep sylvian fissure, transcortical subpial through the anterior T1 gyrus [2] and transcortical through the first temporal sulcus [3]. The choice between them, based on the advantages and disadvantages of each one, depends upon the different view angles they allow, and the parenchymal and vascular relationships they involve. This requires accurate knowledge of the microsurgical anatomy of this region and its features along the different acceding routes. The authors made an experimental study on 80 adult cerebral hemispheres they randomly submitted to selective amygdalohippocampectomy through these four alternative approach routes. They measured the dimensions of the major temporal limbic structures, namely the amygdala and the hippocampus, and their distances from the brain convexity and the deep sylvian fissure along those acceding routes; they also registered the main distinct microsurgical features of each. The results emerge as anatomical guidelines useful to decide for each case which way is preferable to make amygdalohippocampectomy complete, safer and easier.

Asunto(s)

Amígdala del Cerebelo/cirugía , Epilepsia/cirugía , Hipocampo/cirugía , Estudios de Evaluación como Asunto , Femenino , Humanos , Masculino , Neurocirugia/métodos