RESUMO
The complementation Q group (FANCQ) subtype of Fanconi anemia (FA) caused by the ERCC4/XPF mutation is very rare. Two siblings, aged 13 and 10 with Fanconi phenotypic features, presented with right hemiparesis and focal-onset seizures. In both cases, cranial magnetic resonance imaging (MRI) showed mass-like lesions accompanied by peripheral edema and calcification. In one case, oral steroid treatment and surgical excision were performed, while in the other case, the cranial lesion regressed just with steroid treatment and without surgery. Both siblings remained wheelchair-bound due to neurological dysfunction. One case died due to hepatocellular carcinoma. ERCC4/XPF gene mutation was detected in both siblings.
Assuntos
Proteínas de Ligação a DNA , Anemia de Fanconi , Irmãos , Humanos , Anemia de Fanconi/complicações , Anemia de Fanconi/genética , Anemia de Fanconi/patologia , Masculino , Proteínas de Ligação a DNA/genética , Criança , Adolescente , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/complicações , Feminino , Imageamento por Ressonância Magnética , Mutação , Diagnóstico DiferencialRESUMO
Clear cell sarcoma of the kidney (CCSK) is a rare primary renal tumor in children. It is known for its propensity to metastasize to bones and lungs at initial diagnosis. Distant metastatic relapses occur in about 15-16% of the patients, with the brain being the most frequent site of relapse. Imaging features of brain metastases from CCSK have only been reported in a few cases and most reports lack a detailed description of the imaging findings. We present brain magnetic resonance imaging (MRI) findings in an infant with relapsed CCSK who developed multiple parenchymal metastases with concentric signal alterations and no tumor-associated edema.
Assuntos
Neoplasias Encefálicas , Neoplasias Renais , Sarcoma de Células Claras , Criança , Lactente , Humanos , Sarcoma de Células Claras/diagnóstico por imagem , Sarcoma de Células Claras/patologia , Rim/patologia , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/patologia , Neoplasias Encefálicas/patologia , Imageamento por Ressonância MagnéticaRESUMO
BACKGROUND: Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Advanced RB, associated with exceedingly poor prognosis, requires more intensive multiagent chemotherapy than conventional regimens. Rescue of the bone marrow after intensive chemotherapy is achieved with stem cell transplantation. The sequential courses (tandem transplantation) of high-dose chemotherapy followed by autologous stem cell transplantation allow for even greater dose intensity in consolidation with the potential to use different active chemotherapeutics at each transplant and have proven feasible and successful in treating children with recurrent/refractory solid tumors. CASE DESCRIPTION: We report an infant with trilateral high-risk RB who received tandem high-dose chemotherapy (HDC) followed by autologous stem cell transplantation after the conventional chemotherapy. A 5-month-old female patient presented with strabismus, and the ophthalmoscopic examination showed intraocular tumoral lesions in both eyes. Magnetic resonance imaging (MRI) concluded the trilateral retinoblastoma diagnosis due to a tumoral mass in the optic chiasm. The follow-up ophthalmologic examinations and the MRI detected stable disease after six cycles of multiagent chemotherapy. CONCLUSIONS: Rescue with autologous stem cell transplantation after HDC allows for an increase in chemotherapy intensity. Tandem transplantation provides the chance to perform different chemotherapeutics at each transplant and enables an increase in the chemotherapy intensity, thus providing a positive effect on disease-free survival.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Neoplasias da Retina , Retinoblastoma , Criança , Lactente , Humanos , Feminino , Retinoblastoma/diagnóstico , Retinoblastoma/tratamento farmacológico , Transplante Autólogo , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Recidiva Local de Neoplasia , Transplante de Células-Tronco , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/tratamento farmacológico , Terapia CombinadaAssuntos
Neoplasias Ósseas , Segunda Neoplasia Primária , Leucemia-Linfoma Linfoblástico de Células Precursoras , Sarcoma de Ewing , Criança , Humanos , Segunda Neoplasia Primária/etiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológicoRESUMO
A 12-year-old male was referred for surgery with the diagnosis of right atrial aneurysm. Resection of the right atrial aneurysm was performed under total cardiopulmonary bypass. Besides a very thin muscular layer, histopathological evaluation of the aneurysm specimen revealed extensive eosinophilic infiltration at the epicardial side which, from place to place showed penetrations into the muscular layer. The screening tests performed for determination of the etiology of eosinophilia were indeterminate supporting the diagnosis of idiopathic right atrial aneurysm. In conclusion, although the reason for the eosinophilia could not be detected, it may have a part in the development of right atrial aneurysm that merits further investigation.
Assuntos
Apêndice Atrial , Aneurisma Cardíaco , Apêndice Atrial/cirurgia , Ponte Cardiopulmonar , Criança , Aneurisma Cardíaco/diagnóstico por imagem , Aneurisma Cardíaco/etiologia , Aneurisma Cardíaco/cirurgia , Átrios do Coração/patologia , Átrios do Coração/cirurgia , Humanos , MasculinoRESUMO
OBJECTIVE: The aim of this prospective study was to evaluate pre- and post-treatment MRI and CT findings of osteoid osteoma (OO) patients treated with radiofrequency thermo-ablation (RFTA) and to compare these findings with visual analog scale (VAS) scores. METHODS: Sixteen patients (4 females and 12 males; mean age of 18.87 ± 8.75 years (range: 8-37)) with OO were examined with CT and MRI, at baseline and at an average of 3 months following the procedure. On pre- and post-procedural CT and MRIs, OO-related findings were recorded. Treatment success was evaluated with VAS scores. RESULTS: Baseline VAS scores were 8 or 9 and follow-up scores were 0 or 1, indicating no early recurrences. Nidus diameters decreased significantly after the procedure (p = 0.027, p = 0.002, and p = 0.002; and p = 0.001, p = 0.001, p = 0.001 for AP, ML and CC nidus diameters for CT and MRI, respectively). The mean nidus volume were significantly decreased after the procedure (p = 0.001, for CT and MRI). On post-procedural images, cortical thickening, the signal intensity and contrast enhancement of the nidus and the extent of periostitis were significantly decreased (p = 0.019, p = 0.001, p = 0.001 and p = 0.034, respectively). There was no significant change in nidus calcification, perinidal cortical and intramedullary sclerosis, periosteal reaction, bone deformity, bone marrow and soft tissue edema, joint effusion and synovitis after the procedure (p = 0.253, p = 0.062, p = 0.245, p = 1, p = 1, p = 0.429, p = 0.371, p = 0.625, p = 1). CONCLUSION: Although the changes in imaging findings may be helpful in early follow-up of OO patients treated with RFTA, these changes alone cannot be used with accuracy in predicting treatment response. LEVEL OF EVIDENCE: Level IV, Therapeutic Study.
Assuntos
Neoplasias Ósseas , Ablação por Cateter , Imageamento por Ressonância Magnética/métodos , Osteoma Osteoide , Tomografia Computadorizada por Raios X/métodos , Adolescente , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/cirurgia , Ablação por Cateter/efeitos adversos , Ablação por Cateter/métodos , Criança , Feminino , Humanos , Masculino , Osteoma Osteoide/diagnóstico , Osteoma Osteoide/cirurgia , Valor Preditivo dos Testes , Estudos Prospectivos , Avaliação de Sintomas , Resultado do Tratamento , Escala Visual AnalógicaRESUMO
Background/aim: Airway compression (AC) by vascular structures is an important complication of congenital heart disease (CHD) that often goes unrecognized. It is not easy to identify whether CHD patients require additional invasive examinations or not. Therefore, the present study aims to develop an AC diagnostic algorithm for CHD patients. Materials and methods: CHD patients with persistent respiratory symptoms that were treated between January 2007 and December 2015 were retrospectively reviewed. The following data were recorded for all CHD patients with AC: age, cardiac anomalies, the compressed structure, the airway diameter ratio (ADR), the compressing structure(s), treatment, and follow-up.Results: During the 8-year study period, 62 of 253 CHD patients had persistent respiratory symptoms, of which 11 cases were diagnosed as AC via bronchoscopy and/or thoracic computed tomography angiography. The most frequently affected structures were the left main bronchus and trachea, and the most common compressing structure was the right pulmonary artery. The ADR was near total compression in 3 patients and >0.50 in 3 patients. During follow-up, 5 of the 11 patients with AC underwent surgery, 2 died, and 4 were followed clinically. Patients with ADR of >0.50 did not require surgery and were followed clinically. Conclusion: CHD patients with persistent respiratory symptoms associated with lower respiratory airway obstruction should be evaluated via invasive examination. An AC diagnostic algorithm for pediatric CHD patients was developed.
RESUMO
Isolated intracranial Rosai-Dorfman disease (RDD) is extremely rare in pediatric patients. We present the case of a 22-month-old boy whom had isolated intracranial RDD involvement. To our knowledge, a parieto-occipital regional involvement without a dural tail sign has not been previously documented. Also, the mass contained hyperintense central T1 foci, and hypointense T2 and gradient echo foci; which are helpful in the differential diagnosis from meningioma. The magnetic resonance and computed tomography imaging findings are discussed and the follow-up course is presented in this paper.
Assuntos
Histiocitose Sinusal/diagnóstico por imagem , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Humanos , Processamento de Imagem Assistida por Computador , Lactente , MasculinoRESUMO
A patient who underwent mastectomy of the left breast owing to breast cancer was referred to our department for abdominal ultrasonography during her routine check-up. Radiological examinations demonstrated multiple masses that tended to form clusters in the liver parenchyma, and the lesions were initially thought to represent metastases from the breast cancer. Multisite biopsies and serological tests confirmed the diagnosis of Fasciola hepatica infestation. To our knowledge, this is a unique case report of a patient with a known malignant neoplasm. We also present an overview of the literature about human fascioliasis in Turkey.
RESUMO
Burkitt lymphoma is an aggressive and rapidly growing tumor that is curable and highly sensitive to chemotherapy. It can affect almost every tissue in the body, producing various clinical presentations and imaging appearances, according to the predilection of the different subtypes for certain sites. Awareness of its diagnostically specific imaging appearances plays an important role in rapid detection and treatment. In this pictorial review, we aimed to identify the most common imaging features of Burkitt lymphoma in pediatric patients.
Assuntos
Linfoma de Burkitt/diagnóstico por imagem , Neoplasias Abdominais/diagnóstico por imagem , Neoplasias Abdominais/patologia , Linfoma de Burkitt/patologia , Criança , Feminino , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/patologia , Humanos , MasculinoRESUMO
PURPOSE: Juvenile nasopharyngeal angiofibroma (JNA) is a rare tumor that exhibits a predictable spreading pattern. Radiologist's prior knowledge on the tumor's characteristics aids in establishing a diagnosis. We aimed to report the characteristic Magnetic Resonance Imaging (MRI) findings and the spread patterns of JNA. MATERIALS AND METHODS: We retrospectively evaluated the MRI findings and extension pathways of 6 cases of JNA. RESULTS: The patients' age ranged from 8 to 16 years and all patients were male. The tumors were classified according to the Onerci system. Tumors were largely isointense to muscle on T1-weighted images and hyperintense on T2-weighted images. All lesions had internal signal-void regions and all exhibited intense enhancement after IV contrast injection. Diffusion restriction was not an associated feature. ADC values for these tumors were high. The evaluation of the available MR angiography studies of three patients showed the blood supply to the tumor to be mainly from the internal maxillary branch of the external carotid artery. In all patients, the diagnosis was based on MR images and a surgical excision was planned. CONCLUSION: The diagnosis can be established based on the characteristic imaging findings and the clinical history without performing a biopsy.
RESUMO
Desmoplastic infantile ganglioglioma is a paediatric brain tumor that is commonly seen in the infantile age group. Literature on the non-infantile variant of this low-grade supratentorial neoplasm is very scarce, except for a few case reports. Herein, we report a case of desmoplastic non-infantile ganglioglioma occurring at the age of 6 years and describe its conventional and advanced magnetic resonance imaging characteristics.
Assuntos
Neoplasias Encefálicas/diagnóstico , Ganglioglioma/diagnóstico , Hipocampo/patologia , Giro Para-Hipocampal/patologia , Criança , Imagem de Difusão por Ressonância Magnética , Feminino , Hipocampo/irrigação sanguínea , Hipocampo/metabolismo , Humanos , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Giro Para-Hipocampal/irrigação sanguínea , Giro Para-Hipocampal/metabolismo , Espectroscopia de Prótons por Ressonância MagnéticaRESUMO
Fibro-osseous pseudotumor (FOPT) is a rare and benign ossifying lesion. Described as the superficial variant of myositis ossificans (MO), this rare entity mostly occurs in the subcutaneous tissues of the digits. The FOPT clinicopathological features may mimic a variety of benign and malignant soft tissue lesions, and the diagnosis can be difficult when it arises in an unusual anatomic location. In this report we describe the clinical and radiological features of a case of an FOPT that involved the hypothenar region of the hand.
Assuntos
Fibroma/diagnóstico , Imageamento por Ressonância Magnética/métodos , Ossificação Heterotópica/diagnóstico , Osteoma/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Diagnóstico Diferencial , Feminino , Fibroma/cirurgia , Seguimentos , Mãos/diagnóstico por imagem , Mãos/patologia , Mãos/cirurgia , Humanos , Imageamento Tridimensional/métodos , Pessoa de Meia-Idade , Ossificação Heterotópica/cirurgia , Osteoma/cirurgia , Neoplasias de Tecidos Moles/cirurgiaRESUMO
A 28-year-old male with scoliosis presented with complaints of dyspnea and vomiting. His medical history revealed a mediastinal ganglioneuroma resection at the age of 2. After the surgery, he had not been followed up until his admission to our hospital. Computed tomography and MRI showed severe scoliosis of the thoracic spine and a paravertebral mass extending from the upper thoracic level to the level of renal arteries. Based on its radiological findings and the patient's history, the tumor was considered to be a recurrent ganglioneuroma. Paravertebral ganglioneuromas may cause progressive scoliosis, and a careful examination for patients with progressive scoliosis is mandatory.