Neuroimaging findings in late infantile GM1 gangliosidosis. 1998

C Y Chen, and R A Zimmerman, and C C Lee, and F H Chen, and Y S Yuh, and H S Hsiao
Department of Radiology, Tri-Service General Hospital and National Defense Medical Center, Taipei, Taiwan.

Late infantile GM1 gangliosidosis is an extremely rare metabolic disorder with clinical features of seizure and progressive motor and mental retardation without facial dysmorphism or visceral organomegaly. We report the CT and MR imaging findings in one infant, which included abnormalities of the cerebral cortex, white matter, and deep nuclei.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
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
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014057 Tomography, X-Ray Computed Tomography using x-ray transmission and a computer algorithm to reconstruct the image. CAT Scan, X-Ray,CT Scan, X-Ray,Cine-CT,Computerized Tomography, X-Ray,Electron Beam Computed Tomography,Tomodensitometry,Tomography, Transmission Computed,X-Ray Tomography, Computed,CAT Scan, X Ray,CT X Ray,Computed Tomography, X-Ray,Computed X Ray Tomography,Computerized Tomography, X Ray,Electron Beam Tomography,Tomography, X Ray Computed,Tomography, X-Ray Computer Assisted,Tomography, X-Ray Computerized,Tomography, X-Ray Computerized Axial,Tomography, Xray Computed,X Ray Computerized Tomography,X Ray Tomography, Computed,X-Ray Computer Assisted Tomography,X-Ray Computerized Axial Tomography,Beam Tomography, Electron,CAT Scans, X-Ray,CT Scan, X Ray,CT Scans, X-Ray,CT X Rays,Cine CT,Computed Tomography, Transmission,Computed Tomography, X Ray,Computed Tomography, Xray,Computed X-Ray Tomography,Scan, X-Ray CAT,Scan, X-Ray CT,Scans, X-Ray CAT,Scans, X-Ray CT,Tomographies, Computed X-Ray,Tomography, Computed X-Ray,Tomography, Electron Beam,Tomography, X Ray Computer Assisted,Tomography, X Ray Computerized,Tomography, X Ray Computerized Axial,Transmission Computed Tomography,X Ray Computer Assisted Tomography,X Ray Computerized Axial Tomography,X Ray, CT,X Rays, CT,X-Ray CAT Scan,X-Ray CAT Scans,X-Ray CT Scan,X-Ray CT Scans,X-Ray Computed Tomography,X-Ray Computerized Tomography,Xray Computed Tomography
D016537 Gangliosidosis, GM1 An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7) G(M1) Gangliosidosis,Adult GM1 Gangliosidosis,Beta-Galactosidase-1 (GLB1) Deficiency,Beta-Galactosidase-1 Deficiency Disease,Beta-Galactosidosis,GLB1 Deficiency,GM1 Gangliosidosis,GM1-Gangliosidosis, Type I,GM1-Gangliosidosis, Type II,GM1-Gangliosidosis, Type III,Gangliosidosis G(M1),Gangliosidosis GM1,Gangliosidosis GM1 Type 3,Gangliosidosis GM1, Adult,Gangliosidosis GM1, Infantile,Gangliosidosis GM1, Juvenile,Gangliosidosis GM1, Type 1,Gangliosidosis GM1, Type 2,Gangliosidosis GM1, Type 3,Gangliosidosis Generalized GM1, Type 1,Gangliosidosis, Generalized GM1 Type 2,Gangliosidosis, Generalized GM1, Adult Type,Gangliosidosis, Generalized GM1, Chronic Type,Gangliosidosis, Generalized GM1, Infantile Form,Gangliosidosis, Generalized GM1, Juvenile Type,Gangliosidosis, Generalized GM1, Type 1,Gangliosidosis, Generalized GM1, Type 2,Gangliosidosis, Generalized GM1, Type 3,Gangliosidosis, Generalized GM1, Type I,Gangliosidosis, Generalized GM1, Type II,Gangliosidosis, Generalized GM1, Type III,Generalized Gangliosidosis,Type 3 (Adult) GM1 Gangliosidosis,beta Galactosidase 1 Deficiency,beta Galactosidase Deficiency,beta-Galactosidase Deficiency,beta-Galactosidase-1 Deficiency,Beta Galactosidase 1 Deficiency Disease,Beta Galactosidosis,Deficiencies, GLB1,Deficiency, GLB1,Deficiency, beta Galactosidase,Deficiency, beta-Galactosidase,Deficiency, beta-Galactosidase-1,GM1 Gangliosidosis, Adult,GM1 Gangliosidosis, Type I,GM1 Gangliosidosis, Type II,GM1 Gangliosidosis, Type III,GM1-Gangliosidoses, Type I,GM1-Gangliosidoses, Type II,GM1-Gangliosidoses, Type III,Gangliosidosis, Adult GM1,Infantile Gangliosidosis GM1,Juvenile Gangliosidosis GM1,Type I GM1-Gangliosidoses,Type I GM1-Gangliosidosis,Type II GM1-Gangliosidoses,Type II GM1-Gangliosidosis,Type III GM1-Gangliosidoses,Type III GM1-Gangliosidosis

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