Pilocytic Astrocytoma of the Cerebellopontine Angle with cerebrospinal fluid Spread in an Adult: A Case Report / Astrocitoma pilocítico no ângulo pontocerebelar com disseminação liquórica em paciente adulto: Relato de caso

Introduction Pilocytic astrocytoma of the cerebellopontine angle (CPA) is uncommon, and its spread to the cerebrospinal fluid (CSF) at the time of diagnosis has not been reported in the literature. Case Presentation We report the case of a 33-year-old man with multifocal pilocytic astrocytoma diagnosed by magnetic resonance imaging (MRI) and confirmed by histopathological examination, and present the radiological and histopathological findings. Conclusion In the case herein reported, we observed spread of the pilocytic astrocytoma of the CPA to the CSF at the initial diagnosis, and early detection by MRI is very important regarding the treatment modality and prognosis.

Introdução O astrocitoma pilocítico no ângulo pontocerebelar (APC) é incomum, e sua disseminação liquórica no momento do diagnóstico não foi relatada na literatura. Apresentação do Caso Relatamos o caso de um homem de 33 anos com astrocitoma pilocítico multifocal diagnosticado por ressonância magnética (RM) e confirmado por exame histopatológico, e apresentamos os achados radiológicos e histopatológicos. Conclusão No caso relatado, observou-se disseminação liquórica de astrocitoma pilocítico no APC no diagnóstico inicial, e a detecção precoce por RM é muito importante para a modalidade de tratamento e o prognóstico.

Síndrome diencefálico en un niño con desnutrición crónica e hiperactividad / Diencephalic syndrome in a child with chronic malnutrition and hyperactivity

El síndrome diencefálico es una causa infrecuente de desnutrición. Se produce por la disfunción del hipotálamo y está asociado a tumores del encéfalo. Los pacientes presentan una grave y progresiva pérdida de peso, aunque el apetito y la ingesta calórica son, por lo general, adecuados. Característicamente, los síntomas neurológicos son tardíos, lo que retrasa la sospecha diagnóstica. Se presenta a un paciente de 2 años y 6 meses de edad con desnutrición crónica grado II, derivado con diagnóstico presuntivo de enfermedad celíaca con mala adherencia y fracaso del tratamiento. Durante la internación, se arribó al diagnóstico de síndrome diencefálico secundario a un astrocitoma pilocítico grado I.

Diencephalic syndrome is an infrequent cause of malnutrition. It is produced by a malfunctioning hypothalamus, and it is related to encephalic tumors. Patients present a serious and progressive weight loss although the appetite and calorie intake are, usually, adequate. Neurological symptoms typically have a late appearance, delaying diagnostic suspicion. We present a patient aged 2 years and a half with grade II chronic malnutrition, referred with presumptive diagnosis of celiac disease, with poor adherence and treatment failure. During hospitalization, diagnosis of diencephalic syndrome secondary to grade I pilocytic astrocytoma was reached.

[Astrocytoma and epilepsy. Clinical case]. / Astrocitoma y epilepsia. Caso clínico.

BACKGROUND: Pilocytic astrocytoma is a rare tumour, usually occurring in paediatric ages, and mainly located in the posterior fossa. It can cause hydrocephalus and intracranial hypertension and, less frequently, seizures, or a focal neurological deficit. The main imaging study by magnetic resonance imaging, which shows a tumour with solid and cystic components without peri-lesional swelling. The election treatment is surgical, and the patient is considered cured if a total resection is accomplished. CLINICAL CASE: The case is presented of 22-year-old female patient with a supratentorial pilocytic astrocytoma and epilepsy. Histopathology reported a low grade glial proliferation, with an extensive fibrillar matrix, small cells without atypia, extensive calcifications and piloid areas consisting of bipolar fusiform cells, and some Rosenthal fibres. There were also spongiotic areas consisting of multipolar cells and associated microcysts. The final report was a pilocytic astrocytoma. CONCLUSIONS: Pilocytic astrocytoma is more frequent in paediatric patients and in the posterior fossa. The case presented is of a young female adult with supratentorial location, making it a special case. The surgery achieved a total resection. The long-term prognosis is good, but it is necessary to perform a follow-up, particularly in adult patients because of a higher risk of recurrence.

Astrocitoma pilocítico: Formas de presentación

Nuestro objetivo fue mostrar y describir casos de astrocitomas pilocíticos (AP) supra e infratentoriales en sus formas típicas y atípicas de presentación en resonancia magnética y tomografía computada. Para ello, fueron seleccionados de nuestra casuística 32 pacientes: 24 tuvieron diagnóstico confirmado de AP por anatomía patológica y los 8 restantes mostraban gliomas de la vía óptica, por lo que el AP era el diagnóstico presuntivo más relevante. Veinte pacientes eran de sexo masculino y 12 de sexo femenino, con un rango etario entre los 10 meses y los 65 años. A todos se les pidió una resonancia magnética de cerebro con gadolinio, solo a 6 se les realizó difusión y espectroscopia, y en 6 también se llevó a cabo una tomografía computada. Las localizaciones de los AP seleccionados (n = 32) fueron: vía óptica y región hipotálamoquiasmática (n = 17), cerebelo (n = 7), tálamo (n = 6) y parénquima (n = 2). En la resonancia magnética, la mayoría de los AP se presentaron como lesiones sólido-quísticas, iso-hipointensas en ponderación T1 e hiperintensas en ponderación T2 y mesencéfalo talámico, con realce poscontraste. Cuatro pacientes presentaron características atípicas: 1 AP cerebeloso sólido con calcificaciones, 1 AP hipotalámico en un niño sin neurofibromatosis tipo 1 ni realce poscontraste, y 1 AP parenquimatoso en una mujer de 65 años. Los AP son gliomas de grado I, según la clasificación de la Organización Mundial de la Salud. Sus localizaciones más frecuentes son la vía óptica, la región hipotálamo-quiasmática y la fosa posterior. Son tumores circunscriptos, sólido-quísticos, de baja celularidad y, en general, de lento crecimiento.(AU)

Our purpose is to illustrate and describe the typical and atypical imaging findings of supra and infratentorial pilocytic astrocytoma (PA) with computed tomography (CT) and magnetic resonance imaging (MRI). For this, 32 patients with PA from our case series were selected. Twenty-four patients had confirmed PA from histologic analysis. The remaining 8 patients presented optic pathway gliomas and PA was the most accurate presumptive diagnosis. All patients, 20 male and 12 female (age range 10 months-65 years), underwent unenhanced and enhanced MRI. Diffusion-weighted images and MR spectroscopy (MRS) were performed in 6 patients, and 6 patients underwent CT. The locations of the PA selected (n = 32) were: optic pathway and hipotalamous-quiasmatic region (n = 17), cerebellum (n = 7), talamous (n = 6) and cerebral hemisphere (n = 2). At MRI most PA appeared as solid-cystic masses, iso to hypointense in T1-weighted images and hyperintense in T2-weighted images and FLAIR, with post-contrast enhancement. Four patients presented atypical characteristics: 1 solid cerebellum PA with calcifications, 1 hypothalamus PA in a child without NF1 with no contrast enhancement and 1 cerebral hemisphere PA in a 65 year old woman. The PA are regarded as grade I tumors in the WHO classification. The optic pathway and the hypothalamic-quiasmatic region, as well as the posterior fossa are the most frequent locations. PA are typically well-circumscribed and solid-cystic lesions with low cellularity and slow growth.(AU)

Ganglion cells in circumscribed astrocytic tumors: possible implication in classification and prognosis / Implicação da presença de células ganglionares na classificação e evolução de tumores astrocíticos circunscritos

INTRODUCTION: Glial and neuroglial cell neoplasms comprise pilocytic astrocytoma (PA), pleomorphic xanthoastrocytoma (PXA) and ganglioglioma (GG), which share various similarities, though PA has better prognosis. As ganglion cells (GC) may be scarce in GG and these gangliogliomas may recur or progress to grade III, an accurate diagnosis is essential. OBJECTIVES: The aim was to identify GC and eosinophilic granular bodies (EGB) in PA and PXA, to evaluate its effect on patient’s outcome and compare them with GG. METHODS: A retrospective analysis of radiological, morphological and follow-up aspects (disease free-survival, recurrence and death) of 30 cases (14 PA, 8 PXA, 8 GG). Hematoxylin and eosin (HE) stained sections were reviewed to identify the presence of neoplastic GC and EGB. They were immunostained for synaptophysin (SYN) and neurofilament (NF). Glial fibrillary acidic protein (GFAP) immunostaining was performed in selected cases. RESULTS: Six PA were reclassified as GG due to the presence of GC by HE or immunohistochemistry. Some EGB resembling degenerate GC were also immunostained for SYN/NF and most of them were negative for GFAP. The mean disease-free survival was 62.16 months. Four tumors recurred and one patient died. All PXA had GC, suggesting that they were variants of GG, 4 of which recurred and one patient died. Mean disease-free survival was 69 months. The radiological aspect was predominantly cystic. CONCLUSION: We propose that PA and PXA with GC or with EGB immunopositive for neuronal markers could be variants of GG, and some EGB may represent degenerate GC. However, the presence of GC does not seem to modify the biological behavior of these neoplasms.

INTRODUÇÃO: As neoplasias circunscritas incluem astrocitoma pilocítico (AP), xantoastrocitoma pleomórfico (XP) e ganglioglioma (GG), que compartilham diversas semelhanças, sendo o AP o de melhor prognóstico. Como as células ganglionares (CG) no GG podem ser escassas e os GGs podem recidivar ou evoluir (grau III), é fundamental o diagnóstico preciso. OBJETIVOS: Identificar CG e corpos granulares eosinofílicos (CGE) em AP e XP, avaliar sua implicação na evolução e comparar com o GG. MÉTODOS: Análise retrospectiva dos aspectos radiológicos, morfológicos e evolutivos (tempo livre de doença, recidiva e óbito) de 30 casos (14 AP, oito XP, oito GG). Cortes corados com hematoxilina e eosina (HE) foram revistos para a identificação da presença de CG neoplásicas e CGE. Estes foram imunomarcados para sinaptofisina (SIN) e neurofilamento (NF) e, em casos selecionados, para glial fibrillary acidic protein (GFAP). RESULTADOS: Seis AP foram reclassificados para GG pela presença de CG (HE ou imunomarcação). Alguns CGE, semelhantes às CG degeneradas, também imunomarcaram para SIN/NF, a maioria sendo negativa para GFAP. O tempo médio livre de doença foi de 62,16 meses. Quatro tumores recidivaram; um deles evoluiu para óbito. Todos os XP possuíam CG, sugerindo que são variantes de GG, dos quais quatro recidivaram (um óbito). O tempo médio livre de doença foi de 69 meses. O aspecto radiológico foi predominantemente cístico. CONCLUSÃO: Sugerimos que AP e XP com CG ou CGE imunopositivos para marcadores neuronais possam ser variantes de GG e alguns CGE representem CG degeneradas; entretanto, a presença de CG ganglionares parece não modificar o comportamento biológico dessas neoplasias.

Astrocitoma pilocítico da região selar/suprasselar determinando manifestações endócrinas / Pilocytic astrocytoma of sellar/suprasellar region determining endocrine manifestations

Pilocytic astrocytoma (PA) is a grade I glial neoplasm arising mainly in the cerebellum of children. Herein, the authors report a case of PA in a 21 year-old male patient, who presented headache, vomiting and delayed pubertal development. Serum level of cortisol and testosterone corresponded to 32.8 ug/dl and 0.19 ng/ml, respectively. The computed tomography/magnetic resonance (CT/RM) imaging showed an expansive process compromising suprasellar/hypothalamic region and determining hydrocephalus. The patient underwent resection of the process. Histological evaluation revealed a glial neoplasm constituted by loose glial tissue, small microcysts, areas of dense piloid tissue and Rosenthal fibers. The neoplastic cells were immunoreactive for glial fibrillary acidic protein (GFAP) and negative for chromogranin and synaptophysin. The diagnosis of PA was then established.

O astrocitoma pilocítico (AP) é uma neoplasia glial grau I encontrada principalmente no cerebelo de crianças. Os autores relatam um caso de AP em paciente masculino, 21 anos de idade, que apresenta cefaleia, vômitos e retardo do desenvolvimento puberal. Os níveis séricos de cortisol e testesterona corresponderam a 32,8 ug/dl e 0,19 ng/ml. A tomografia computadorizada/ressonância magnética (TC/RM) identificaram um processo expansivo que comprometia a região suprasselar/hipotalâmica e determinava hidrocefalia.O paciente foi submetido à ressecção do processo. À microscopia, foi identificada uma neoplasia glial constituída por tecido glial frouxo, pequenos microcistos, áreas de tecido piloide denso e fibras de Rosenthal. As células neoplásicas foram imunopositivas para glial fibrillary acidic protein (GFAP) e negativas para cromogranina e sinaptofisina. O diagnóstico de AP foi, então, estabelecido.

Unusual dissemination patterns of low-grade astrocytomas in childhood

CONTEXT: Low-grade astrocytomas are intracerebral lesions of relatively high frequency in the under-18 pediatric population. They often present indolent behaviour, and complete surgical resection is the choice treatment. In cases where the surgery is not possible, chemotherapy and radiotherapy may be used. Medical reports do not recommend examination of the spinal cord at diagnosis or during treatment, since the risk of dissemination of the lesion to the spine is minimal according to medical experience. We describe here four cases of children with low-grade astrocytoma with aggressive dissemination to the neuroaxis.

CONTEXTO: Gliomas de baixo grau de malignidade são lesões intracerebrais relativamente freqüentes na população pediátrica menor de 18 anos de idade. Eles freqüentemente são indolentes em seu comportamento e a ressecção cirúrgica completa é o tratmento de eleição. Nos casos em que a cirurgia não é possível, a quimioterapia e a radioterapia podem ser utilizadas. Relatos da literatura não recomendam a avaliação radiológica da coluna espinhal ao diagnóstico ou durante o tratamento, desde que o risco de disseminação destas lesões para a coluna é considerado mínimo. Descrevemos aqui quatro casos de crianças com gliomas de baixo grau de malignidade com disseminação agressiva para o neuroeixo.