Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report. 2010

Gopakumar Hariharan, and Sivji Ramachandran, and Rajiv Parapurath
Amrita Institute of Medical Sciences (AIMS), Kochi, Kerala, India. gopan2596@yahoo.com

Congenital afibrinogenemia is a very rare inherited coagulation disorder, characterized by virtual absence of plasma fibrinogen (factor I). There are only about 250 cases reported in the world literature 1. We describe a case of congenital afibrinogenemia which presented as an antenatally detected intracranial bleed.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn 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
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260 Female Females
D005340 Fibrinogen Plasma glycoprotein clotted by thrombin, composed of a dimer of three non-identical pairs of polypeptide chains (alpha, beta, gamma) held together by disulfide bonds. Fibrinogen clotting is a sol-gel change involving complex molecular arrangements: whereas fibrinogen is cleaved by thrombin to form polypeptides A and B, the proteolytic action of other enzymes yields different fibrinogen degradation products. Coagulation Factor I,Factor I,Blood Coagulation Factor I,gamma-Fibrinogen,Factor I, Coagulation,gamma Fibrinogen
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000347 Afibrinogenemia A deficiency or absence of FIBRINOGEN in the blood. Fibrinogen Deficiency,Afibrinogenemia, Congenital,Congenital Afibrinogenaemia,Congenital Afibrinogenemia,Deficiency, Fibrinogen,Familial Afibrinogenemia,Hypofibrinogenemia, Congenital,Afibrinogenaemia, Congenital,Afibrinogenaemias, Congenital,Afibrinogenemia, Familial,Afibrinogenemias,Afibrinogenemias, Congenital,Afibrinogenemias, Familial,Congenital Afibrinogenaemias,Congenital Afibrinogenemias,Congenital Hypofibrinogenemia,Congenital Hypofibrinogenemias,Familial Afibrinogenemias,Fibrinogen Deficiencies,Hypofibrinogenemias, Congenital
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
D020300 Intracranial Hemorrhages Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces. Brain Hemorrhage,Hemorrhage, Intracranial,Posterior Fossa Hemorrhage,Brain Hemorrhages,Hemorrhage, Brain,Hemorrhage, Posterior Fossa,Hemorrhages, Brain,Hemorrhages, Intracranial,Hemorrhages, Posterior Fossa,Intracranial Hemorrhage,Posterior Fossa Hemorrhages

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