ABSTRACT
Background: Tuberous sclerosis complex (TSC) is a neuro-cutaneous disease characterized by hamartoma formation in various organs particularly the skin, brain, eye, kidney, heart and lungs. Patients usually have multisystem involvement and thus present to different medical specialties with varied complaints while the true nature of the disease and the hidden manifestations may remain unattended. A im: To assess the frequency and characteristics of various cutaneous and systemic manifestations in TSC and the total impact on different system in a cohort of pediatric patients. Methods: The study included 20 patients fulfilling the diagnostic criteria for TSC from dermatology, pediatrics, and neurology department. Detailed history, examination, and investigations such as chest X-ray, electrocardiography (ECG), ultrasonography (USG) abdomen, echocardiography, fundoscopy, computed tomography (CT) scan of brain and abdomen were done. Results: Dermatological manifestations included ash leaf macules, angiofibromas, shagreen patch, and fibrous plaque. Systemic findings observed were subependymal calcified nodules, subependymal giant cell astrocytoma, cortical tubers, renal cysts, angiomyolipomas, lung cyst, retinal hamartomas, mental deficits and epilepsy. Limitation: Wechsler's Intelligence Scale for Children would have been more appropriate for assessing the intelligence. Dental check-up was not done in our group of patients. Conclusion: Our study highlights the wide variety of cutaneous and systemic manifestations of TSC. The study emphasizes the need for comprehensive multidisciplinary treatment and periodic follow-up which are necessary for appropriate management of this multisystem disorder. Counseling regarding education and rehabilitation of the patients and genetic counseling of parents are important.
Subject(s)
Angiofibroma/etiology , Astrocytoma/etiology , Child , Female , Genetic Counseling , Humans , Male , Tuberous Sclerosis/diagnosis , Tuberous Sclerosis/epidemiology , Tuberous Sclerosis/pathology , Tuberous Sclerosis/diagnostic imaging , Tuberous Sclerosis/rehabilitation , Tuberous Sclerosis/diagnostic imagingSubject(s)
Female , Humans , Middle Aged , Astrocytoma/etiology , Brain Neoplasms/etiology , Neoplasms, Radiation-Induced , Neoplasms, Second Primary/etiology , Pineal Gland , Astrocytoma/diagnosis , Brain Neoplasms/radiotherapy , Fatal Outcome , Germinoma/radiotherapy , Magnetic Resonance Imaging , Neoplasms, Radiation-Induced/diagnosis , Neoplasms, Second Primary/diagnosisABSTRACT
Se reporta el caso de un niño de cinco años de edad con un astrocitoma pilocítico juvenil que exhibe un inusual realce leptomeníngeo, resaltando los hallazgos radiológicos. Neurocirujanos y radiólogos deben sospechar esta entidad al encontrar tumores intraparenquimatosos con realce leptomeníngeo en pacientes jóvenes...
A case of a 5-year-old boy with a juvenile pilocytic astrocytoma that shows an unusual leptomeningeal enhancement is presented. The course of the illness and radiological and surgical findings are presented. Neurosurgeons and radiologists must suspect this pathological entity when they treat young patients with intraparenchymal tumors with marked leptomeningeal enhancement...
Reporta-se o caso de um menino de cinco anos de idade com um astrocitoma pilocítico juvenil que mostra um infreqüente realce leptomeníngeo, ressaltando os achados radiológicos. Neurocirurgiões e radiologistas devem suspeitar esta entidade ao encontrar tumores intraparenquimatosos com realce leptomeníngeo em pacientes jovens...
Subject(s)
Child , Astrocytoma , Astrocytoma/etiology , Meninges , Meninges/pathologyABSTRACT
O xantoastrocitoma pleomórfico é uma neoplasia rara,classificada como grau II ou III pela Organização Mundial da Saúde,a depender do aspecto histopatológico.Descrevemos dois casos de portadores de xantoastrocitoma pleomórfico,cujo tratamento escolhido foi o cirúrgico.A associação com quimioterapia foi realizada em um dos pacientes.Haja vista a baixa freqüência desse tipo de neoplasia,torna-se fundamental a realização de novos estudos para o desenvolvimento de protocolos de tratamento que vislumbrem a diminuição da taxa de recidivas.
Subject(s)
Male , Child , Adolescent , Humans , Astrocytoma/surgery , Astrocytoma/classification , Astrocytoma/diagnosis , Astrocytoma/etiology , Astrocytoma/pathology , Xanthomatosis/pathology , Drug TherapyABSTRACT
Tuberous sclerosis is an autosomal dominant genetic disease that involves multiple organs. Hamartomas are the predominant lesions. Classically, tuberous sclerosis has been characterized by a classical clinical triad of facial angiofibromas [90%], mental retardation [50-80%], seizure [80-90%] and all three in 30% of the patients. Two major features or one major feature plus two minor features are necessary for the definite diagnosis of this disease. We had some patients admitted with different presentations of tuberous sclerosis and a past history of convulsion from childhood, skin lesions and also mental retardation with a new onset headache and a changed pattern of convulsion. In physical examination, facial angiofibromas and subungual fibromas were apparently detected. Brain CT scan study with contrast showed multiple calcified nodules associated with tubers, ventriculomegaly and also enhancing enlarged nodules at the foramen of Monro, which were suggestive of subependymal giant cell astrocytoma [SGCA]. MRI showed the same brain findings [tubers, white matter lesions and subependymal nodules associated with SGCA], which were detected better. After surgery, SGCA was proved. In abdominal and pelvic CT scan and ultrasonography, massive bilateral angiomyolipomatosis and focal hypodense hyperechoic liver lesions were detected
Subject(s)
Humans , Male , Tuberous Sclerosis/pathology , Hamartoma , Astrocytoma/etiology , Magnetic Resonance Imaging , Glioma, Subependymal/etiology , Neurologic Manifestations , Tomography, X-Ray ComputedABSTRACT
Radiation induced gliomas are uncommon. Occurrence of glioma following radiotherapy for craniopharyngiomas is extremely uncommon and only eight case reports have been so far published. We present our experience with one similar case of temporal gliomas occurring twelve years following radiotherapy for a sub totally excised craniopharyngioma. Although the exact mechanism of gliomas formation is unclear, their occurrence following conventional radiotherapy is a distinct possibility and signifies a poor prognosis.
Subject(s)
Astrocytoma/etiology , Brain Neoplasms/etiology , Child, Preschool , Craniopharyngioma/radiotherapy , Humans , Male , Neoplasms, Radiation-Induced/etiology , Pituitary Neoplasms/radiotherapy , Radiotherapy/adverse effectsABSTRACT
Administration of fractionated doses of irradiation is part of the adjutant therapy for CNS tumours such as craniopharyngiomas and pituitary adenomas. It can maximise cure rates or expand symptom-free period. Among the adverse effects of radiotherapy, the induction of a new tumour within the irradiated field has been frequently described. The precise clinical features that correlate irradiation and oncogenesis are not completely defined, but some authors have suggested that tumors are radiation induced when they are histologically different from the treated ones, arise in greater frequency in irradiated patients than among normal population and tend to occur in younger people with an unusual aggressiveness. In this article, we report a case of a papillary astrocytoma arising in a rather unusual latency period following radiotherapy for craniopharyngioma
Subject(s)
Humans , Female , Adult , Astrocytoma/etiology , Cranial Nerve Neoplasms/etiology , Craniopharyngioma/radiotherapy , Pituitary Neoplasms/radiotherapy , Astrocytoma/pathology , Cranial Nerve Neoplasms/pathology , Dose Fractionation, Radiation , Optic Chiasm , Reaction TimeABSTRACT
La epilepsia fármaco resistente crónica (EFRC) se asocia frecuentemente a lesiones neoplásicas (LN). El diagnóstico precoz de las LN ha aumentado desde la introducción de la resonancia magnética (RM) en el estudio rutinario de la epilepsia refractaria. Los pacientes con EFRC presentan un espectro de LN muy diferente al observado normalmente en otros pacientes neuroquirúrgicos portadores de tumores cerebrales. Las LN están presentes en alrededor de un 30 por ciento de los pacientes operados por EFRC, en los cuales la epilepsia es frecuentemente el único síntoma y con una historia clínica que supera los 10 años con crisis parciales complejas (con o sin generalización secundaria). La RM suele revelar una señal anormal en todos los pacientes, sin mostrar efecto de masa o edema. La cirugía consiste en resección de la LN, incluyendo el tejido epileptógeno perilesional, determinado por video-electroencefalografía digital o eventualmente por electrocorticografía en casos no concluyentes. Las LN más frecuentes encontradas son: gangliogliomas, gliomas de bajo grado (especialmente astrocimas) y tumores disembrioplásticos neuroepiteliales. La larga duración preoperatoria de la EFRC indica que la mayoría de las LN han permanecido largo tiempo en el encefálo y que han crecido muy lentamente o bien han permanecido estáticas. El control post-operatorio de las crisis así como la sobrevida sugiere que las LN en las EFC tienen un excelente pronóstico. Sin embargo un seguimiento más largo es necesario para establecer el pronóstico rela de las LN en el área de la RM
Subject(s)
Humans , Astrocytoma/complications , Central Nervous System Neoplasms/complications , Epilepsy/complications , Ganglioglioma/complications , Astrocytoma/etiology , Astrocytoma/pathology , Astrocytoma/surgery , Central Nervous System Neoplasms/etiology , Central Nervous System Neoplasms/pathology , Central Nervous System Neoplasms/surgery , Drug Resistance , Epilepsy/diagnosis , Epilepsy/etiology , Ganglioglioma/etiology , Ganglioglioma/pathology , Ganglioglioma/surgery , Prognosis , Magnetic Resonance SpectroscopyABSTRACT
Se expone la importancia del conocimiento de los aspectos clínicos y genéticos de los diferentes transtornos Neurocutáneos. Presentamos la serie personal del Profesor I. Pascual Castroviejo, de pacientes en el Servicio de Neurología Infantil a lo largo de 23.5 años. Esta serie está constituida por 174 casos de NEUROFIBROMATOSIS, 139 casos de Esclerosis Tuberosa, 48 casos de Incontinencia Pigmentaria Acromiante de Ito, 41 casos de síndrome de Stuger-Weber, 14 casos de Nevus Sebaceous de Jadassohn, 8 casos de Cutis Marmorata Telangiectásica congénita, 8 casos de Angioma Capilar, 8 casos de Melanosis Neurocutánea, 6 casos de síndrome de Sjogren-Larsson, 4 casos de Neuvus Fuscuceruleous de Ota, 3 casos de Incontinencia Pigmenti, 2 casos de síndrome de Goltz y 1 caso de Displasia Cerebelotrigeminal. Exponemos un seguimiento de 15 casos de NEUROFIBROMATOSIS TIPO - I entre Enero y Julio de 1990.