Biomaterial Database

Homocystinuria presenting with sagittal sinus thrombosis in infancy. 1996

D Kerrin, and D Murdoch Eaton, and J Livingston, and M Henderson, and M Smith

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
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
D006712	Homocystinuria	Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)	CBS Deficiency,Cystathionine beta-Synthase Deficiency Disease,Cystathionine Beta Synthase Deficiency,Deficiency Disease, Cystathionine beta-Synthase,CBS Deficiencies,Cystathionine beta Synthase Deficiency Disease,Deficiencies, CBS,Deficiency Disease, Cystathionine beta Synthase,Deficiency, CBS
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012851	Sinus Thrombosis, Intracranial	Formation or presence of a blood clot (THROMBUS) in the CRANIAL SINUSES, large endothelium-lined venous channels situated within the SKULL. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe HEADACHE; SEIZURE; and other neurological defects.	Cranial Sinus Thrombosis,Intracranial Sinus Thrombophlebitis,Petrous Sinus Thrombosis,Sinus Thrombosis,Venous Sinus Thrombosis, Cranial,Petrous Sinus Thrombophlebitis,Cranial Sinus Thromboses,Intracranial Sinus Thrombophlebitides,Intracranial Sinus Thromboses,Intracranial Sinus Thrombosis,Petrous Sinus Thrombophlebitides,Petrous Sinus Thromboses,Sinus Thrombophlebitides, Intracranial,Sinus Thrombophlebitides, Petrous,Sinus Thrombophlebitis, Intracranial,Sinus Thrombophlebitis, Petrous,Sinus Thromboses,Sinus Thromboses, Cranial,Sinus Thromboses, Intracranial,Sinus Thromboses, Petrous,Sinus Thrombosis, Cranial,Sinus Thrombosis, Petrous,Thrombophlebitides, Intracranial Sinus,Thrombophlebitides, Petrous Sinus,Thrombophlebitis, Intracranial Sinus,Thrombophlebitis, Petrous Sinus,Thromboses, Cranial Sinus,Thromboses, Intracranial Sinus,Thromboses, Petrous Sinus,Thromboses, Sinus,Thrombosis, Cranial Sinus,Thrombosis, Intracranial Sinus,Thrombosis, Petrous Sinus,Thrombosis, Sinus
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