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Posterior fossa neoplasm and PHACES syndrome: a case report. 2009

Katharine E Wallen, and Eldad J Hadar, and Victor Perry, and Thomas W Bouldin, and James Loehr, and Julie Blatt
Division of Pediatric Hematology Oncology, The University of North Carolina, Chapel Hill, NC 27599-7236, USA. kwallen@unch.unc.edu

A 4-year-old girl with PHACES syndrome (posterior fossa brain malformations, hemangiomas, arterial anomalies, cardiac anomalies/coarctation of the aorta, eye abnormalities, and sternal clefting/supraumbilical raphe) developed a cerebellar pilocytic astrocytoma 18 months after resolution of her neck, ear, and thoracic hemangiomas. Because cutaneous hemangiomas may have involuted by the time a patient is diagnosed with a central nervous system neoplasm, it seems possible that in other such patients the association may have gone unrecognized. Cerebellar pilocytic astrocytoma may be a rare manifestation of the posterior fossa malformations of PHACES.

UI MeSH Term Description Entries
D008279 Magnetic Resonance Imaging Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D001921 Brain The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. Encephalon
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D006345 Heart Septal Defects, Ventricular Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Ventricular Septal Defects,Intraventricular Septal Defects,Ventricular Septal Defect,Defect, Intraventricular Septal,Defect, Ventricular Septal,Defects, Intraventricular Septal,Intraventricular Septal Defect,Septal Defect, Intraventricular,Septal Defect, Ventricular,Septal Defects, Intraventricular,Septal Defects, Ventricular
D006391 Hemangioma A vascular anomaly due to proliferation of BLOOD VESSELS that forms a tumor-like mass. The common types involve CAPILLARIES and VEINS. It can occur anywhere in the body but is most frequently noticed in the SKIN and SUBCUTANEOUS TISSUE. (from Stedman, 27th ed, 2000) Angioma,Chorioangioma,Hemangioma, Histiocytoid,Hemangioma, Intramuscular,Chorangioma,Chorangiomas,Chorioangiomas,Hemangiomas,Hemangiomas, Histiocytoid,Hemangiomas, Intramuscular,Histiocytoid Hemangioma,Histiocytoid Hemangiomas,Intramuscular Hemangioma,Intramuscular Hemangiomas
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D001254 Astrocytoma Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082) Astrocytoma, Subependymal Giant Cell,Glioma, Astrocytic,Oligoastrocytoma, Mixed,Pleomorphic Xanthoastrocytomas,Anaplastic Astrocytoma,Astrocytoma, Grade I,Astrocytoma, Grade II,Astrocytoma, Grade III,Astrocytoma, Protoplasmic,Astroglioma,Cerebral Astrocytoma,Childhood Cerebral Astrocytoma,Fibrillary Astrocytoma,Gemistocytic Astrocytoma,Intracranial Astrocytoma,Juvenile Pilocytic Astrocytoma,Pilocytic Astrocytoma,Subependymal Giant Cell Astrocytoma,Anaplastic Astrocytomas,Astrocytic Glioma,Astrocytic Gliomas,Astrocytoma, Anaplastic,Astrocytoma, Cerebral,Astrocytoma, Childhood Cerebral,Astrocytoma, Fibrillary,Astrocytoma, Gemistocytic,Astrocytoma, Intracranial,Astrocytoma, Juvenile Pilocytic,Astrocytoma, Pilocytic,Astrocytomas,Astrocytomas, Grade III,Astrogliomas,Cerebral Astrocytoma, Childhood,Cerebral Astrocytomas,Childhood Cerebral Astrocytomas,Fibrillary Astrocytomas,Gemistocytic Astrocytomas,Gliomas, Astrocytic,Grade I Astrocytoma,Grade I Astrocytomas,Grade II Astrocytoma,Grade II Astrocytomas,Grade III Astrocytoma,Grade III Astrocytomas,Intracranial Astrocytomas,Juvenile Pilocytic Astrocytomas,Mixed Oligoastrocytoma,Mixed Oligoastrocytomas,Pilocytic Astrocytoma, Juvenile,Pilocytic Astrocytomas,Pleomorphic Xanthoastrocytoma,Protoplasmic Astrocytoma,Protoplasmic Astrocytomas,Xanthoastrocytoma, Pleomorphic
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

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