RESUMEN
Ependymomas account for 10% of all malignant pediatric central nervous system tumors. Standard therapy includes maximal safe surgical resection, followed by focal radiation. Despite the aggressive therapy, progression-free survival is poor. Most ependymoma relapses occur locally at the original tumor site. Extraneural presentations of ependymoma are extremely rare, and no standard of care treatment exists. We present a single-institution case series of 3 patients who experienced extraneural relapses of supratentorial ependymoma and describe their treatment and outcome. These cases of extraneural relapse highlight the possible modes of extraneural spread, including hematogenous, lymphatic, and microscopic seeding through surgical drains and shunts. In addition, they illustrate the increase in histologic grade and mutational burden that may occur at the time of relapse. These cases illustrate the role of aggressive, individualized treatment interventions using a combination of surgery, radiation, and chemotherapy.
Asunto(s)
Ependimoma , Recurrencia Local de Neoplasia , Humanos , Niño , Ependimoma/patología , Terapia CombinadaRESUMEN
BACKGROUND AND PURPOSE: Quantitative arterial tortuosity (QAT) is a ratio of vessel length between 2 points to the shortest linear distance between same points. QAT has been reported as an imaging biomarker of arteriopathy in pediatric arterial ischemic stroke (AIS) because of dissection and transient cerebral arteriopathy. We sought to determine whether QAT abnormalities are present in other subtypes of pediatric AIS. METHODS: Children with AIS-absent conventional biomarkers of arteriopathy and case-controls who underwent magnetic resonance angiography were classified by stroke mechanism. The primary study population consisted of cryptogenic AIS cases. AIS with bow hunter physiology and cardiogenic emboli were also evaluated. AIS because of nontraumatic dissection served as positive controls. Patients without vascular risk factors served as negative controls. Segmental QAT of cervicocerebral arteries were measured using automated image processing and differences between groups analyzed. RESULTS: In negative controls, QAT showed significant age-related variability for most arterial segments. Positive controls showed significantly increased QAT of the distal extracranial vertebral arteries (VAs) and decreased QAT of the intracranial VA relative to negative controls. Cryptogenic stroke and bow hunter physiology cases were similar to positive controls showing increased QAT of the distal extracranial VA and decreased QAT of the intracranial VA relative to negative controls. Cardioembolic stroke cases were similar to negative controls showing decreased QAT of the distal extracranial VA and increased QAT of the intracranial VA relative to positive controls. CONCLUSIONS: Pediatric cryptogenic stroke is frequently associated with cervicocerebral arteriopathies expressing altered QAT. QAT may be a diagnostic biomarker of arteriopathy in pediatric AIS.
Asunto(s)
Arterias/diagnóstico por imagen , Isquemia Encefálica/diagnóstico por imagen , Enfermedades Arteriales Cerebrales/diagnóstico por imagen , Accidente Cerebrovascular/diagnóstico por imagen , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Lactante , Angiografía por Resonancia Magnética , Masculino , Estudios Retrospectivos , Factores de Riesgo , Adulto JovenRESUMEN
We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. Each individual has a heterozygous mutation in POLR1A, which encodes a core component of RNA polymerase 1. All three individuals exhibit varying degrees of mandibulofacial dysostosis, and two additionally have limb anomalies. Consistent with this observation, we discovered that polr1a mutant zebrafish exhibited cranioskeletal anomalies mimicking the human phenotype. polr1a loss of function led to perturbed ribosome biogenesis and p53-dependent cell death, resulting in a deficiency of neural-crest-derived skeletal precursor cells and consequently craniofacial anomalies. Our findings expand the genotypic and phenotypic heterogeneity of congenital acrofacial disorders caused by disruption of ribosome biogenesis.
Asunto(s)
Deformidades Congénitas de las Extremidades/genética , Disostosis Mandibulofacial/genética , ARN Polimerasa I/genética , Ribosomas/genética , Animales , Muerte Celular/genética , Genotipo , Humanos , Deformidades Congénitas de las Extremidades/fisiopatología , Disostosis Mandibulofacial/fisiopatología , Mutación , Cresta Neural/crecimiento & desarrollo , Cresta Neural/patología , Ribosomas/patología , Pez CebraRESUMEN
BACKGROUND: Alagille syndrome is a pediatric multisystem disease with increased prevalence of cerebrovascular disease. The spectrum of cerebrovascular disease in Alagille syndrome includes cerebral aneurysms, moyamoya arteriopathy and dolichoectasia. The prevalence of cerebrovascular disease in Alagille syndrome varies widely in the literature. OBJECTIVE: To determine the prevalence of cerebrovascular disease in our institution's Alagille patient population by employing a full primary review of all available neuroimaging. MATERIALS AND METHODS: An institutional review board-approved retrospective review of all Alagille syndrome patients seen at a tertiary care children's hospital from January 2000 to January 2014 was performed. All neuroimaging studies were reviewed for arterial or venous abnormalities. The prevalence of arterial and venous abnormalities was calculated and clinical outcomes were determined. RESULTS: Fifty-two patients with Alagille syndrome ranging in age from 11 months to 27 years were studied. Nineteen (37%) had dedicated vascular neuroimaging. Six (32%) had cerebral arterial disease, 4 with dolichoectasia, 3 with aneurysm(s) and 2 with moyamoya arteriopathy. Three of the four patients with dolichoectasia had associated aneurysm(s). Venous anomalies were present in 4 (21%) patients. One patient with moyamoya arteriopathy underwent revascularization procedures. No deaths were attributable to cerebrovascular disease. CONCLUSION: Cerebral vasculopathy is an important feature of Alagille syndrome and includes dolichoectasia, cerebral aneurysms and moyamoya arteriopathy. The high prevalence identified in our study suggests noninvasive vascular neuroimaging screening should be performed in this patient population. In addition to cerebral arterial abnormalities, alterations of venous development may be a feature of Alagille syndrome.
Asunto(s)
Síndrome de Alagille/complicaciones , Síndrome de Alagille/diagnóstico por imagen , Enfermedades Cardiovasculares/diagnóstico por imagen , Enfermedades Cardiovasculares/etiología , Enfermedades Arteriales Cerebrales/diagnóstico por imagen , Enfermedades Arteriales Cerebrales/etiología , Neuroimagen/métodos , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Prevalencia , Estudios RetrospectivosRESUMEN
Venous-related brain injury is a common form of cerebrovascular injury in children and encompasses a diverse group of cerebrovascular diagnoses. The purpose of this pictorial essay is to introduce the relevant anatomy, pathophysiology and various imaging patterns of venous-related cerebral injury in children. Unifying concepts to better understand the effects of venous hypertension in the developing brain will be emphasized. These unifying concepts will provide the imaging professional with a conceptual framework to better understand and confidently identify imaging patterns of venous-related cerebral injury.
Asunto(s)
Lesiones Encefálicas/diagnóstico por imagen , Venas Cerebrales/diagnóstico por imagen , Venas Cerebrales/lesiones , Diagnóstico por Imagen , Lesiones del Sistema Vascular/diagnóstico por imagen , Lesiones Encefálicas/fisiopatología , Niño , Humanos , Lesiones del Sistema Vascular/fisiopatologíaRESUMEN
Developmental venous anomalies (DVAs) are the most common vascular malformation of the brain and are commonly identified on routine imaging of the brain. They are typically considered incidental findings, usually with no clinical significance. However the increasing identification of DVAs as a result of improved imaging technology has led to recognition of their association with a variety of abnormal imaging findings and clinically important conditions. This pictorial essay explores the suspected embryological origin, associated imaging features, and proposed pathophysiological mechanisms of DVAs in the pediatric population. This paper emphasizes newer physiological imaging data, which suggest that DVA drainage has less physiological flexibility than otherwise normal venous drainage development.
Asunto(s)
Venas Cerebrales/anomalías , Venas Cerebrales/diagnóstico por imagen , Angiografía por Resonancia Magnética/métodos , Malformaciones Vasculares/diagnóstico por imagen , Malformaciones Vasculares/embriología , Venas Cerebrales/embriología , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , MasculinoRESUMEN
Posterior reversible encephalopathy syndrome (PRES) is a clinical syndrome characterized by vision changes, altered mental status, and seizures, typically caused by an acute rise in blood pressure. PRES has been reported after hematopoietic stem cell transplantation (HSCT) in association with hypertension from calcineurin inhibitors and corticosteroids. The imaging evaluation of PRES after HSCT in children and young adults has not been well described. We performed a retrospective review of all HSCT recipients presenting to the intensive care unit with new neurologic symptoms. A neuroradiologist reviewed all radiologic images and compared computed tomography (CT) versus magnetic resonance imaging (MRI) findings indicative of diagnosis of PRES. Alternative imaging diagnoses explaining the patients' symptoms were also recorded. Fifty-four transplant recipients were admitted to the intensive care unit with new neurologic symptoms. Thirty-nine percent (21 of 54) of subjects had imaging findings consistent with PRES, 24% (13 of 54) had imaging findings consistent with an alternative diagnosis, 9% (5 of 54) had a nonspecific finding, and 28% (15 of 54) had no acute imaging findings. PRES was diagnosed at a median of 49 days (interquartile range, 29 to 94) after HSCT. The presenting symptom for the majority of patients with PRES was seizures (86%), whereas 14% presented with acute encephalopathy. Ninety-five percent of subjects diagnosed with PRES (20 of 21) underwent a head CT as their initial imaging evaluation. CT scan was diagnostic of PRES in 40% (8 of 20). Subsequently, 16 patients underwent brain MRI with 12 additional patients being diagnosed with PRES on MRI. The median time elapsed between negative CT and a positive MRI examination was 20 hours (range, 3.6 hours to 9 days). CT serves as an excellent screening test for acute pathology, such as intracranial hemorrhage; however, it lacks sensitivity for the diagnosis of PRES. Patients with clinical symptoms suggestive of PRES who have a negative CT should be treated appropriately for PRES and should undergo MRI of the brain as soon as clinically stable to confirm the diagnosis.