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Rosette-forming glioneuronal tumor (RGNT) of the 4th ventricle is a newly described WHO grade I brain tumor included in recent WHO classification of CNS tumors. It is a biphasic tumor thought to originate from pluripotent progenitor cells of subependymal plate. Intra-operative diagnosis plays an important role, as complete surgical excision is the treatment of choice. We are reporting a case of RGNT in a 19 years-old young male emphasizing the intra-operative pathological pointers and their role in accurate diagnosis for the suitable surgical intervention.
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Neoplasias Encefálicas , Neoplasias do Ventrículo Cerebral , Masculino , Humanos , Adulto Jovem , Adulto , Neoplasias do Ventrículo Cerebral/diagnóstico por imagem , Neoplasias do Ventrículo Cerebral/cirurgia , Quarto Ventrículo/diagnóstico por imagem , Quarto Ventrículo/cirurgia , Quarto Ventrículo/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Técnicas Citológicas , Formação de RosetaRESUMO
BACKGROUND: Gonadotropin-releasing hormone (GnRH) receptor, a rhodopsin-like G-protein coupled receptor (GPCR) family member involved in GnRH signaling, is reported to be expressed in several tumors including glioblastoma multiforme (GBM), one of the most malignant and aggressive forms of primary brain tumors. However, the molecular targets associated with GnRH receptor are not well studied in GBM or in other cancers. The present study aims at investigating the effect of GnRH agonist (Gosarelin acetate) on cell proliferation and associated signaling pathways in GBM cell line, LN229. METHODS: LN229 cells were treated with different concentrations of GnRH agonist (10-10 M to 10-5 M) and the effect on cell proliferation was analyzed by cell count method. Further, total protein was extracted from control and GnRH agonist treated cells (with maximum reduction in cell proliferation) followed by trypsin digestion, labeling with iTRAQ reagents and LC-MS/MS analysis to identify differentially expressed proteins. Bioinformatic analysis was performed for annotation of proteins for the associated molecular function, altered pathways and network analysis using STRING database. RESULTS: The treatment with different concentrations of GnRH agonist showed a reduction in cell proliferation with a maximum reduction of 48.2% observed at 10-6 M. Quantitative proteomic analysis after GnRH agonist treatment (10-6 M) led to the identification of a total of 29 differentially expressed proteins with 1.3-fold change (23 upregulated, such as, kininogen-1 (KNG1), alpha-2-HS-glycoprotein (AHSG), alpha-fetoprotein (AFP), and 6 downregulated, such as integrator complex subunit 11 (CPSF3L), protein FRG1 (FRG1). Some of them are known [KNG1, AHSG, AFP] while others such as inter-alpha-trypsin inhibitor heavy chain H2 (ITIH2), ITIH4, and LIM domain-containing protein 1 (LIMD1) are novel to GnRH signaling pathway. Protein-protein interaction analysis showed a direct interaction of KNG1, a hub molecule, with GnRH, GnRH receptor, EGFR and other interactors including ITIH2, ITIH4 and AHSG. Overexpression of KNG1 after GnRH agonist treatment was validated using Western blot analysis, while a significant inhibition of EGFR was observed after GnRH agonist treatment. CONCLUSIONS: The study suggests a possible link of GnRH signaling with EGFR signaling pathways likely via KNG1. KNG1 inhibitors may be investigated independently or in combination with GnRH agonist for therapeutic applications.
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Neoplasias Encefálicas/metabolismo , Proliferação de Células/efeitos dos fármacos , Glioblastoma/metabolismo , Hormônio Liberador de Gonadotropina/biossíntese , Receptores LHRH/biossíntese , Animais , Antineoplásicos Hormonais/farmacologia , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Linhagem Celular Tumoral , Cromatografia Líquida , Biologia Computacional , Glioblastoma/genética , Glioblastoma/patologia , Hormônio Liberador de Gonadotropina/agonistas , Hormônio Liberador de Gonadotropina/genética , Gosserrelina/farmacologia , Humanos , Proteômica/métodos , Receptores LHRH/genética , Transdução de Sinais/efeitos dos fármacos , Espectrometria de Massas em TandemRESUMO
Peripheral neuropathy is a common reason for referral to neurology. Chronic acquired demyelinating neuropathies are an important and varied group with overlapping presentations, and may have an immune-mediated cause. Their correct diagnosis is important as they respond to different treatments; timely intervention can prevent irreversible axonal degeneration. We present a case that highlights the approach to an adult presenting with a chronic demyelinating neuropathy.
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Hiperplasia do Linfonodo Gigante/complicações , Hiperplasia do Linfonodo Gigante/diagnóstico por imagem , Debilidade Muscular/complicações , Debilidade Muscular/diagnóstico por imagem , Síndrome POEMS/complicações , Síndrome POEMS/diagnóstico por imagem , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/complicações , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico por imagemRESUMO
Ependymomas are relatively uncommon gliomas with poor prognosis despite recent advances in neurooncology. Molecular pathogenesis of ependymomas is not extensively studied. Lack of correlation of histological grade with patient outcome has directed attention towards identification of molecular alterations as novel prognostic markers. Recently, 1q gain has emerged as a potential prognostic marker, associated with decreased survival, especially in posterior fossa, high grade tumors. Cases of intracranial ependymomas were retrieved. Tumors were graded using objective criteria to supplement WHO grading. Fluorescence in situ hybridization for 1q gain was performed on formalin-fixed paraffin embedded sections. Eighty-one intracranial ependymomas were analyzed. Pediatric (76%) and infratentorial (70%) ependymomas constituted the majority. 1q gain was seen in 27 cases (33%), was equally frequent in children (34%) and adults (32%), supratentorial (37%) and infratentorial (32%) location, grade II (33%) and III (25%) tumors. Recurrence was noted in 24 cases and death in 7 cases with 5-year progression-free and overall-survival rates of 37% and 80%, respectively. Grade II tumors had a better survival than grade III tumors; histopathological grade was the only prognostically significant marker. 1q gain had no prognostic significance. 1q gain is frequent in ependymomas in Indian patients, seen across all ages, sites and grades, and thus is likely an early event in pathogenesis. The prognostic value of 1q gain, remains uncertain, and multicentric pooling of data is required. A histopathological grading system using objective criteria correlates well with patient outcome and can serve as an economical option for prognostication of ependymomas.
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Neoplasias Encefálicas/diagnóstico , Cromossomos Humanos Par 1/genética , Ependimoma/diagnóstico , Neoplasias Infratentoriais/diagnóstico , Recidiva Local de Neoplasia/diagnóstico , Adulto , Biomarcadores Tumorais/genética , Neoplasias Encefálicas/genética , Pré-Escolar , Aberrações Cromossômicas , Ependimoma/genética , Feminino , Seguimentos , Humanos , Técnicas Imunoenzimáticas , Hibridização in Situ Fluorescente , Neoplasias Infratentoriais/genética , Masculino , Recidiva Local de Neoplasia/genética , Estadiamento de Neoplasias , Prognóstico , Taxa de SobrevidaRESUMO
OBJECTIVE: To evaluate the clinical and histopathologic changes induced by collagen cross-linking (CXL) in pseudophakic bullous keratopathy (PBK). DESIGN: Randomized, prospective, interventional study. PARTICIPANTS: Twenty-four patients with PBK were included in the study. METHODS: Twenty-four patients with PBK underwent CXL followed by keratoplasty at 1 or 3 months. Twelve patients underwent penetrating keratoplasty 1 month after CXL (group A) and the remaining 12 patients underwent penetrating keratoplasty 3 months after CXL (group B). The main outcome measures were assessed at 1 week and 1 month for all patients and at 3 months for 12 patients only. The corneal buttons underwent histopathologic and immunofluorescence evaluation. MAIN OUTCOME MEASURES: Visual acuity, ocular discomfort (tearing, redness, pain), corneal haze, central corneal thickness, histopathologic evaluation, and immunofluorescent microscopy. RESULTS: Mean visual acuity showed a significant improvement after CXL, from 1.925 ± 0.173 before surgery to 1.75±0.296 at 1 month after surgery (P = 0.010), but deteriorated to 1.81 ± 0.23 at 3 months. Symptomatic relief after CXL was at a maximum at 1 month, with a worsening trend at 3 months. Eighteen patients showed a reduction in corneal haze 1 month after CXL. The effect was maintained in 9 of 12 patients at 3 months. The mean central corneal thickness decreased significantly from 846.46 ± 88.741 to 781.0 ± 98.788 µm at 1 month (P<0.01) after CXL, but increased to 805.08±136.06 µm at 3 months. Immunofluorescence microscopy revealed anterior stromal compaction in 7 of 12 patients (58.3%) in group A and in 5 of 12 patients (41.6%) in group B. Staining of keratocyte nuclei with 4',6-diaminido-2-phenylindole dihydrochloride (Molecular Probes, Carlsband, CA) revealed a relative uniform distribution throughout the stroma. CONCLUSIONS: Collagen cross-linking causes symptomatic relief and a decrease in central corneal thickness and anterior stromal compaction in PBK. However, the effect decreases with time and depends on disease severity.
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Colágeno/metabolismo , Doenças da Córnea/tratamento farmacológico , Substância Própria/patologia , Reagentes de Ligações Cruzadas/uso terapêutico , Pseudofacia/tratamento farmacológico , Adulto , Idoso , Doenças da Córnea/metabolismo , Doenças da Córnea/patologia , Paquimetria Corneana , Substância Própria/metabolismo , Feminino , Humanos , Ceratoplastia Penetrante , Masculino , Microscopia de Fluorescência , Pessoa de Meia-Idade , Fármacos Fotossensibilizantes/uso terapêutico , Estudos Prospectivos , Pseudofacia/metabolismo , Pseudofacia/patologia , Riboflavina/uso terapêutico , Raios Ultravioleta , Acuidade Visual/fisiologiaRESUMO
INTRODUCTION: Rosai Dorfman disease (RDD) is a rare benign histiocytic proliferative disorder of lymph node sinuses. Langerhans cell histiocytosis (LCH) is a solitary or multisystem clonal proliferation of abnormal dendritic cells (Langerhans cells) with varied presentations. The co-occurrence of these two entities is quite rare. CASE DESCRIPTION: A six-year-old boy presented with multiple mass lesions in the neck since two years and a nodular lesion in right upper eyelid for the past 4 months. He was diagnosed with tubercular lymphadenitis 2 years back, and was given a course of anti-tubercular therapy (ATT) elsewhere. No improvement was seen. Fine needle aspiration cytology (FNAC) of the cervical lymph nodes revealed reactive lymphadenitis while lymph node biopsy showed features of RDD. Excision biopsy of the orbital mass showed features of both RDD and LCH. The patient was started on tablet prednisolone. Six months later, complete resolution of lymph node enlargement and remaining orbital mass was noted. Post operative contrast enhanced Magnetic Resonance Imaging of head and neck was normal. CONCLUSION: The coexistence of RDD and LCH may be a result of divergent differentiation from a common lineage or a de novo phenotypic evolution.
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Histiocitose de Células de Langerhans , Histiocitose Sinusal , Linfadenite , Masculino , Humanos , Criança , Histiocitose Sinusal/diagnóstico , Histiocitose Sinusal/tratamento farmacológico , Histiocitose Sinusal/complicações , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/tratamento farmacológico , Histiocitose de Células de Langerhans/complicações , Biópsia , Linfonodos/patologia , Linfadenite/complicações , Linfadenite/patologiaRESUMO
A middle-aged lady presented with a firm, nontender mass on the left upper lid and area behind the left ear following lid reconstruction with postauricular graft for cicatricial ectropion 11 months prior. She had a similar mass on the right shin. She was diagnosed as a case of multiple keloids. Intralesional injection of triamcinolone acetonide suspension and 5-Fluorouracil (5-FU) in the upper lid keloid resulted in ulceration of its surface. Surgical excision, injection of 5-FU in the keloid bed with temporal forehead flap reconstruction, was performed. Occurrence of inadvertent postoperative wound infection with Acinetobacter baumannii was treated with local dressing with colistimethate sodium. Adjuvant therapy with topical imiquimod cream 5% was given subsequently for 24 weeks with no recurrence of the lid keloid after 16 months. The patient was managed using a combination of conservative and surgical therapy and multidisciplinary team work and kept on a long term follow-up.
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INTRODUCTION: This case report describes 3 cases of unsuspected neoplasms in previously blind eyes, with recent onset pain. Cases and observations: Case 1: Female with pain, redness in the non-seeing right eye (R/E) for two months. R/E had total cataract, low intraocular pressure and a well-defined globular mass lesion at the posterior pole, seen on ultrasound. Enucleation with an implant was done. Histopathology clinched the diagnosis of choroidal melanoma. Case 2: A 20-year male, developed pain, redness in left eye (L/E) for two months. L/E was blind since childhood, secondary to trauma. The patient underwent enucleation and detailed histopathological examination and immunohistochemistry supported a diagnosis of ependymoma with vascular malformation. Case 3: A 24-year male with pain, redness in L/E for six months, with decrease in size of eyeball. L/E had low vision since childhood. On examination, L/E was phthisical with diffuse conjunctival congestion, band-shaped keratopathy, cataract, and neovascularization of iris. Imaging revealed a small distorted globe with highly reflective mass along the posterior pole. Histopathology of the enucleated specimen confirmed the diagnosis of choroidal osteoma, with gliosis of the adjacent RPE. CONCLUSION: In the management of a painful blind eye, it is extremely important to rule out an intraocular malignancy, particularly in patients with recent onset of pain.
Assuntos
Catarata , Neoplasias da Coroide , Neoplasias Uveais , Cegueira/diagnóstico , Cegueira/etiologia , Criança , Neoplasias da Coroide/complicações , Neoplasias da Coroide/diagnóstico , Neoplasias da Coroide/cirurgia , Enucleação Ocular , Feminino , Humanos , Masculino , DorRESUMO
A 16-year-old woman presented with a painless, progressive, hard swelling in the left inferolateral orbital wall for the past 1 year. There was no diminution of vision or limitation of ocular motility. Imaging revealed an intraosseous, well-defined, expansile, soft tissue lesion in the inferolateral wall of the left orbit. A left anterior orbitotomy with complete surgical excision was performed. Histopathological evaluation of the specimen revealed fascicular pattern of spindle cells with a rich network of slit-like, branching blood vessels. Tumour cells exhibited smooth muscle actin and vimentin positivity but were negative for CD-34 and STAT-6. In absence of any systemic manifestation, a diagnosis of intraosseous solitary orbital myofibroma was made. The case highlights the importance of integrating clinical, radiological and histopathological features in overcoming the diagnostic challenge of differentiating myofibroma from other mesenchymal neoplasms. It also brings forth the importance of complete resection and curettage to prevent recurrence.
Assuntos
Miofibroma , Órbita , Adolescente , Feminino , Humanos , Miofibroma/diagnóstico por imagem , Miofibroma/cirurgia , Recidiva Local de Neoplasia , Tomografia Computadorizada por Raios X , VimentinaRESUMO
Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder occurring due to metabolic defect in the liver and manifesting predominantly in the skin, eyes and arteries. It shows characteristic yellowish papules on the skin around the nape of neck along with looseness of skin over flexural surfaces. PXE shows marked phenotypic heterogeneity. Complications related to arterial wall and retinal Bruchs' membrane calcification occur later in life; early diagnosis therefore helps keep patient on follow up for development of the same. In Indian patients, classic skin changes may be missed clinically making histopathology pivotal in diagnosis and patient management.
Assuntos
Pseudoxantoma Elástico/genética , Adolescente , Adulto , Feminino , Humanos , Índia , Masculino , IrmãosRESUMO
Central nervous system (CNS) germinomas often extend or disseminate into the ventricular and subarachnoid space. We present a case of primary CNS germinoma consisting mainly of meningeal dissemination, which is extremely unusual and must be kept in the differential diagnosis.
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BACKGROUND: Alopecia areata is an autoimmune disease that occurs as a result of the loss of the inherent immune privilege of the hair follicle. It has been recently demonstrated that the interferon-γ/interleukin-15 feedback loop that signals via the Janus kinase-signal transducer and activator of transcription pathway is critical to the breakdown of this immune privilege. AIMS: To evaluate the immunological distribution of CD4+ T-cells, CD8+ T-cells, phosphorylated signal transducer and activator of transcription 1 and study its relation with the clinical and histopathological findings of the disease. MATERIALS AND METHODS: A total of 30 patients of alopecia areata were included in the study. Following a detailed history and clinical examination, a scalp biopsy was performed. Histopathology was studied and immunohistochemistry was done to demonstrate the positivity and distribution of CD4+ T-cells, CD8+ T-cells and phosphorylated signal transducer and activator of transcription 1. RESULTS: The follicular count, number of anagen and terminal hair were found to be decreased, whereas the catagen, telogen and vellus hair were found to be increased in number. A peribulbar CD4+ T-cell infiltrate was seen in 70% cases, whereas a CD8+ T-cell infiltrate was seen in 83.3% cases. An intrabulbar CD4+ T-cell infiltrate was seen in 26.7% cases, whereas a CD8+ T-cell infiltrate was seen in 70% cases. Among the 25 hair follicles dermal papilla identified, 36.8% cases were found to be positive for phospho-signal transducer and activation of transcription-1. LIMITATIONS: The drawbacks of our study included a small sample size and the use of only vertical sectioning for the scalp biopsy samples. CONCLUSION: Phosphorylated signal transducer and activator of transcription 1 positivity as an indicator of signalling via the Janus kinase-1/2 pathway was seen in 36.8% of our cases highlighting the integral role of this pathway in the pathogenesis of alopecia areata.
Assuntos
Alopecia em Áreas/imunologia , Alopecia em Áreas/patologia , Janus Quinase 1/fisiologia , Janus Quinase 2/fisiologia , Transcrição Gênica/fisiologia , Adolescente , Adulto , Linfócitos T CD4-Positivos/fisiologia , Linfócitos T CD8-Positivos/fisiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Folículo Piloso/imunologia , Folículo Piloso/patologia , Humanos , Janus Quinases/fisiologia , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Incidentally, detected upper urinary tract urothelial carcinoma is a rare entity. We report the case of a 70-year-old female patient who presented with flank pain, pyuria, fever, and a unilateral nonfunctioning kidney with nephrolithiasis and pyonephrosis on pyelography. Routine imaging failed to identify a mass lesion. In an Indian setting, the clinical differential of tuberculosis was considered likely. A nephrectomy was performed in view of the poor perfusion and functional status of the right kidney. Histopathological examination of the kidney showed a tumor of urothelial origin arising at the renal pelvis displaying extensive squamous metaplasia. Such a near total metaplastic change is rare and has hitherto been undescribed in the renal pelvis. Activation of pleuripotent urothelial stem cells in the setting of chronic irritation and inflammation may be the pathogenetic process behind such an occurrence.
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Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células de Transição/diagnóstico , Achados Incidentais , Neoplasias Renais/diagnóstico , Pionefrose/cirurgia , Idoso , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/cirurgia , Carcinoma de Células de Transição/complicações , Carcinoma de Células de Transição/patologia , Carcinoma de Células de Transição/cirurgia , Feminino , Humanos , Rim/diagnóstico por imagem , Rim/patologia , Rim/cirurgia , Neoplasias Renais/complicações , Neoplasias Renais/patologia , Neoplasias Renais/cirurgia , Nefrectomia , Pionefrose/diagnóstico , Pionefrose/etiologia , Cintilografia , Pentetato de Tecnécio Tc 99m/administração & dosagem , UltrassonografiaRESUMO
Chondrosarcoma is a rare malignant tumor originating from cartilaginous tissue with a tendency to localize in the epiphysis of long and pelvic bones. Only 7% of all chondrosarcomas originate in the craniocervical region. Metastasis from intracranial chondrosarcoma is extremely rare with only two previously reported cases. We report on a young patient with intracranial chondrosarcoma who presented with extracranial metastasis 2 years after surgical excision of the primary lesion. Gross total excision combined with radiotherapy so far has led to a favorable outcome.
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Neoplasias Encefálicas/patologia , Condrossarcoma Mesenquimal/secundário , Neoplasias de Cabeça e Pescoço/secundário , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Condrossarcoma Mesenquimal/diagnóstico por imagem , Condrossarcoma Mesenquimal/cirurgia , Feminino , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Adulto JovemRESUMO
Primary rectal non-Hodgkin's lymphoma is a rare disease. Surgery has been proposed as the primary treatment modality for colorectal lymphomas. We report a case of rectal non-Hodgkin's lymphoma (B cell large cell type, Ann Arbor Stage 1E) who responded completely to systemic chemotherapy.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Linfoma não Hodgkin/tratamento farmacológico , Neoplasias Retais/tratamento farmacológico , Ciclofosfamida/uso terapêutico , Doxorrubicina/uso terapêutico , Humanos , Masculino , Prednisona/uso terapêutico , Vincristina/uso terapêutico , Adulto JovemRESUMO
Although nearly half of all schwannomas involve the head and neck region, nasal and paranasal sinus presentations are quite rarely seen. Cystic schwannoma, characterized by cyst formation lined by S-100 protein positive membrane-like structures is very uncommonly seen in sphenoid sinus with only a single previously reported case. Here we report a young patient of cystic schwannoma of the paranasal sinuses having epicenter in the sphenoid sinus. The tumor had caused extensive erosion of the skull base and paranasal sinuses and extended intracranially that radiologically mimicked as infected mucocele causing loss of vision. This case denotes the aggressive behavior of such uncommon tumors.
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Neurilemoma/diagnóstico , Neoplasias dos Seios Paranasais/diagnóstico , Neoplasias da Base do Crânio/diagnóstico , Seio Cavernoso/patologia , Humanos , Masculino , Mucocele/diagnóstico , Invasividade Neoplásica , Neurilemoma/patologia , Neoplasias dos Seios Paranasais/patologia , Neoplasias da Base do Crânio/patologia , Seio Esfenoidal/patologia , Transtornos da Visão/etiologia , Adulto JovemRESUMO
BACKGROUND: Vertebral artery dissection (VAD) is an important cause of stroke in young and a known complication of spinal manipulation procedures, although dissection following neck massage has rarely been reported in literature. Head and neck massage by improperly trained salon employees is very popular and widely practiced in developing countries like India. In the present report we present a case of VAD following neck massage. MATERIAL AND METHODS: We present an unusual case of VAD in a 30-year-old male patient following an episode of neck massage. He developed headache, nausea, vomiting, blurred vision, diplopia, dizziness, and ataxia following the procedure. Initial history and examination suggested that the patient's symptoms were vascular in origin. We also discuss a brief review of the pathology, diagnosis, symptomatology, treatment, prognosis, and occurrence of this rare entity. RESULTS: Computed tomography and magnetic resonance imaging of the brain revealed acute infarction of the left cerebellar hemisphere. Digital subtraction angiography showed narrowing and dilatation of the V3 segment of the left vertebral artery with narrowing of the V4 segment consistent with dissection, along with a cavernous segment aneurysm of the contralateral internal carotid artery. CONCLUSION: This report illustrates the potential hazards associated with neck massage. The vertebral arteries are at risk for dissection, which can lead to acute stroke. This case also suggests that careful history taking and awareness of the symptoms of VAD are necessary to diagnose this entity as timely diagnosis and treatment can prevent permanent disability or even death.
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Pescoço/cirurgia , Acidente Vascular Cerebral/cirurgia , Dissecação da Artéria Vertebral/cirurgia , Artéria Vertebral/cirurgia , Adulto , Angiografia Digital/métodos , Humanos , Angiografia por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/métodos , Masculino , Acidente Vascular Cerebral/diagnóstico , Dissecação da Artéria Vertebral/complicações , Dissecação da Artéria Vertebral/diagnósticoRESUMO
A 5-year-old Indian boy presented with subacute onset regression of milestones associated with seizures and spasticity. The symptoms started after an attack of measles. The magnetic resonance imaging (MRI) of the brain showed cavitating leukodystrophy with posterior predominance. Molecular analysis of the APOPT1 gene, a recently described gene associated with mitochondrial leukodystrophy, showed the patient to be homozygous for a 12.82-kilobase deletion, including coding exon 3. Deletion of exon 3 produces a frameshift, predicting the translation of a truncated protein (p.Glu121Valfs*4). The patient was started on mitochondrial cocktail regimen of thiamine, riboflavin, coenzyme Q and carnitine. Although he initially showed some improvement, he died 6 months after the onset of his illness.
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Proteínas Reguladoras de Apoptose/genética , Encéfalo/diagnóstico por imagem , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/genética , Proteínas Mitocondriais/genética , Deleção de Sequência , Pré-Escolar , Diagnóstico Diferencial , Evolução Fatal , Mutação da Fase de Leitura , Humanos , Leucoencefalopatias/terapia , MasculinoRESUMO
BACKGROUND: Lhermitte-Duclos disease is an extremely rare pathologic entity characterized by a cerebellar mass composed of enlarged cerebellar folia containing abnormal ganglion cells. This entity usually presents in young and middle-aged adults and rarely in children. There is no study in the literature analyzing the long-term clinical course of this disease to assess the behavior primarily because of its rarity. CASE DESCRIPTION: We present our experience with a 7-year-old patient of Lhermitte-Duclos disease who was followed up for 5 years and found to have progressed to bilateral World Health Organization grade IV medulloblastoma. This case denotes the malignant potential of this rare disorder. CONCLUSIONS: LDD is seen rarely and demands a high degree of suspicion in patients presenting with cerebellar mass and/or imaging characteristics. It is prudent to keep these patients in close follow-up for early detection of malignant transformation.
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Neoplasias Cerebelares/fisiopatologia , Síndrome do Hamartoma Múltiplo/fisiopatologia , Meduloblastoma/fisiopatologia , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/patologia , Neoplasias Cerebelares/terapia , Criança , Progressão da Doença , Síndrome do Hamartoma Múltiplo/diagnóstico por imagem , Síndrome do Hamartoma Múltiplo/tratamento farmacológico , Humanos , Masculino , Meduloblastoma/diagnóstico por imagem , Meduloblastoma/patologia , Meduloblastoma/terapiaRESUMO
Ovarian germ cell tumors (GCTs) are rare and affect mainly young girls and women. Two histological groups are distinguished: dysgerminomas and nondysgerminomatous tumors. These tumors have initial good responses to surgery and chemotherapy in 80% cases, but >75% of patients die due to complications of disease progression. There are very few case reports of mixed GCT with extradural spine metastases. We report a rare case of a 17-year-old girl who had undergone left salpingo-oophorectomy with omental and peritoneal biopsy for ovarian GCT with extradural spinal metastasis.