Early magnetic resonance imaging findings in Menkes' disease. 1997

R J Leventer, and A J Kornberg, and E M Phelan, and M J Kean
Department of Neurology, Royal Children's Hospital, Melbourne, Australia.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007706 Menkes Kinky Hair Syndrome An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125) Hypocupremia, Congenital,Kinky Hair Syndrome,Menkes Syndrome,Steely Hair Syndrome,Congenital Hypocupremia,Copper Transport Disease,Kinky Hair Disease,Menkea Syndrome,Menkes Disease,Menkes' Disease,Steely Hair Disease,X-Linked Copper Deficiency,Congenital Hypocupremias,Copper Deficiencies, X-Linked,Copper Deficiency, X-Linked,Copper Transport Diseases,Deficiencies, X-Linked Copper,Deficiency, X-Linked Copper,Disease, Copper Transport,Disease, Steely Hair,Diseases, Copper Transport,Diseases, Kinky Hair,Diseases, Menkes',Diseases, Steely Hair,Hair Diseases, Kinky,Hair Diseases, Steely,Hypocupremias, Congenital,Kinky Hair Diseases,Menkea Syndromes,Menkes' Diseases,Steely Hair Diseases,Steely Hair Syndromes,Syndrome, Menkea,Syndrome, Steely Hair,Syndromes, Menkea,Syndromes, Steely Hair,Transport Disease, Copper,Transport Diseases, Copper,X Linked Copper Deficiency,X-Linked Copper Deficiencies
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
D008297 Male Males
D009778 Occipital Lobe Posterior portion of the CEREBRAL HEMISPHERES responsible for processing visual sensory information. It is located posterior to the parieto-occipital sulcus and extends to the preoccipital notch. Annectant Gyrus,Calcarine Fissure,Calcarine Sulcus,Cuneate Lobule,Cuneus,Cuneus Cortex,Cuneus Gyrus,Gyrus Lingualis,Lingual Gyrus,Lunate Sulcus,Medial Occipitotemporal Gyrus,Occipital Cortex,Occipital Gyrus,Occipital Region,Occipital Sulcus,Sulcus Calcarinus,Calcarine Fissures,Calcarinus, Sulcus,Cortex, Cuneus,Cortex, Occipital,Cortices, Cuneus,Cortices, Occipital,Cuneate Lobules,Cuneus Cortices,Fissure, Calcarine,Fissures, Calcarine,Gyrus Linguali,Gyrus, Annectant,Gyrus, Cuneus,Gyrus, Lingual,Gyrus, Medial Occipitotemporal,Gyrus, Occipital,Linguali, Gyrus,Lingualis, Gyrus,Lobe, Occipital,Lobes, Occipital,Lobule, Cuneate,Lobules, Cuneate,Occipital Cortices,Occipital Lobes,Occipital Regions,Occipitotemporal Gyrus, Medial,Region, Occipital,Regions, Occipital,Sulcus, Calcarine,Sulcus, Lunate,Sulcus, Occipital
D010296 Parietal Lobe Upper central part of the cerebral hemisphere. It is located posterior to central sulcus, anterior to the OCCIPITAL LOBE, and superior to the TEMPORAL LOBES. Brodmann Area 39,Brodmann Area 40,Brodmann Area 5,Brodmann Area 7,Brodmann's Area 39,Brodmann's Area 40,Brodmann's Area 5,Brodmann's Area 7,Inferior Parietal Cortex,Secondary Sensorimotor Cortex,Superior Parietal Lobule,Angular Gyrus,Gyrus Angularis,Gyrus Supramarginalis,Intraparietal Sulcus,Marginal Sulcus,Parietal Cortex,Parietal Lobule,Parietal Region,Posterior Paracentral Lobule,Posterior Parietal Cortex,Praecuneus,Precuneus,Precuneus Cortex,Prelunate Gyrus,Supramarginal Gyrus,Area 39, Brodmann,Area 39, Brodmann's,Area 40, Brodmann,Area 40, Brodmann's,Area 5, Brodmann,Area 5, Brodmann's,Area 7, Brodmann,Area 7, Brodmann's,Brodmanns Area 39,Brodmanns Area 40,Brodmanns Area 5,Brodmanns Area 7,Cortex, Inferior Parietal,Cortex, Parietal,Cortex, Posterior Parietal,Cortex, Precuneus,Cortex, Secondary Sensorimotor,Cortices, Inferior Parietal,Gyrus, Angular,Gyrus, Prelunate,Gyrus, Supramarginal,Inferior Parietal Cortices,Lobe, Parietal,Lobule, Parietal,Lobule, Posterior Paracentral,Lobule, Superior Parietal,Paracentral Lobule, Posterior,Paracentral Lobules, Posterior,Parietal Cortex, Inferior,Parietal Cortex, Posterior,Parietal Cortices,Parietal Cortices, Inferior,Parietal Cortices, Posterior,Parietal Lobes,Parietal Lobule, Superior,Parietal Lobules,Parietal Lobules, Superior,Parietal Regions,Posterior Paracentral Lobules,Posterior Parietal Cortices,Precuneus Cortices,Region, Parietal,Secondary Sensorimotor Cortices,Sensorimotor Cortex, Secondary,Superior Parietal Lobules
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
D002941 Circle of Willis A polygonal anastomosis at the base of the brain formed by the internal carotid (CAROTID ARTERY, INTERNAL), proximal parts of the anterior, middle, and posterior cerebral arteries (ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; POSTERIOR CEREBRAL ARTERY), the anterior communicating artery and the posterior communicating arteries. Cerebral Arterial Circle,Willis' Circle,Arterial Circle, Cerebral,Circle, Willis',Willis Circle
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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