Biomaterial Database

Germinal matrix hemorrhage in Zellweger syndrome. 2010

Toshiki Takenouchi, and G Praveen Raju

Division of Pediatric Neurology, Department of Pediatrics, New York Presbyterian Hospital, Weill Cornell Medical College, New York, New York, USA. tot9005@nyp.org

A term male newborn was noted to have severe diffuse hypotonia, hyporeflexia, hepatosplenomegaly, and characteristic abnormal facies of Zellweger syndrome, the diagnosis of which was confirmed by identification of 2 mutations including Nt2098insT, a frameshift with premature stop codon in exon 13, as well as a novel second mutation at Nt3038G→A (Arg1013His) on skin fibroblast testing. His brain magnetic resonance imaging (MRI) demonstrated bilateral germinolytic cysts with unilateral hemorrhagic transformation. Germinolytic cysts are one of the characteristic radiographic features of Zellweger syndrome, but germinal matrix hemorrhage has never been reported. Germinal matrix hemorrhage is common in premature infants, but found in only 4% of normal term infants. Germinal matrix hemorrhage was seen in a case of Zellweger syndrome with a novel mutation.

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
D008297	Male		Males
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
D002543	Cerebral Hemorrhage	Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA.	Brain Hemorrhage, Cerebral,Cerebral Parenchymal Hemorrhage,Hemorrhage, Cerebral,Intracerebral Hemorrhage,Hemorrhage, Cerebrum,Brain Hemorrhages, Cerebral,Cerebral Brain Hemorrhage,Cerebral Brain Hemorrhages,Cerebral Hemorrhages,Cerebral Parenchymal Hemorrhages,Cerebrum Hemorrhage,Cerebrum Hemorrhages,Hemorrhage, Cerebral Brain,Hemorrhage, Cerebral Parenchymal,Hemorrhage, Intracerebral,Hemorrhages, Cerebral,Hemorrhages, Cerebral Brain,Hemorrhages, Cerebral Parenchymal,Hemorrhages, Cerebrum,Hemorrhages, Intracerebral,Intracerebral Hemorrhages,Parenchymal Hemorrhage, Cerebral,Parenchymal Hemorrhages, Cerebral
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015211	Zellweger Syndrome	An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.	Cerebrohepatorenal Syndrome,Zellweger-Like Syndrome,Cerebro-Hepato-Renal Syndrome,PBD, ZSS,Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum,Zellweger Disease,Zellweger Spectrum,Zellweger Syndrome Spectrum,Zellweger's Syndrome,Cerebro Hepato Renal Syndrome,Spectrum, Zellweger,Zellweger Like Syndrome