Intracranial Hemorrhage as the Initial Manifestation of a Congenital Disorder of Glycosylation
@article{Cohn2006IntracranialHA,
title={Intracranial Hemorrhage as the Initial Manifestation of a Congenital Disorder of Glycosylation},
author={Ronald D Cohn and Erik A. Eklund and Amanda L Bergner and James F. Casella and S Lee Woods and Janyne E Althaus and Karin J Blakemore and Harold E. Fox and Julie E. Hoover-Fong and Ada Hamosh and Nancy E. Braverman and Hudson H. Freeze and Simeon A. Boyadjiev},
journal={Pediatrics},
year={2006},
volume={118},
pages={e514 - e521}
}Intracranial hemorrhage in a term neonate is a rare event in the absence of an identifiable precipitating factor such as severe thrombocytopenia, mechanical trauma, asphyxia, infections, or congenital vascular malformations. Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of multisystem disorders characterized by the abnormal glycosylation of a number of glycoproteins. Although bleeding caused by abnormal glycosylation of various coagulation factors is…
10 Citations
Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps
- MedicineJournal of Inherited Metabolic Disease
- 2008
The most frequent findings were rather nonspecific, including developmental delay and axial hypotonia, and two subgroups could be established: one with a pure neurological presentation and the other with a neurological-multivisceral form.
Neonatal neuroimaging findings in inborn errors of metabolism
- MedicineJournal of magnetic resonance imaging : JMRI
- 2013
It is important that neonatologists, pediatric neurologists, and pediatric neuroradiologists are familiar with the neuroimaging findings of metabolic disorders presenting in the neonatal time period to allow early initiation of targeted metabolic and genetic laboratory investigations and treatment.
Ophthalmological abnormalities in children with congenital disorders of glycosylation type I
- MedicineBritish Journal of Ophthalmology
- 2008
Ophthalmic findings are frequent in CDG syndrome involving both the anterior and posterior segment of the eye, and routine screening and follow-up is suggested in all children diagnosed withCDG syndrome to provide early treatment and adequate counselling.
Neurometabolic diseases of childhood
- Medicine, BiologyPediatric Radiology
- 2015
This manuscript summarizes the topics of neurometabolic diseases of the newborn, which can be subdivided in various groups depending on the predominantly involved tissue, the involved metabolic processes and primary age of the child at presentation.
α2‐Antiplasmin and its deficiency: fibrinolysis out of balance
- Biology, MedicineHaemophilia : the official journal of the World Federation of Hemophilia
- 2008
The history of the discovery of α2‐antiplasmin, the understanding of its genetics and function, and the current knowledge of its congenital deficiency are reviewed.
Carbohydrate biomarkers for future disease detection and treatment
- BiologyScience China. Chemistry
- 2010
This review presents selected examples of important carbohydrate biomarkers and how they can be targeted for the development of therapeutic and diagnostic agents.
Acute hoofdpijn bij een meisje van 9 jaar veroorzaakt door een spontaan chronisch subduraal hematoom
- Medicine
- 2010
A previously healthy 9-year-old girl presented at the emergency department with severe progressive headache since four days and diplopia since three weeks, and MR-imaging showed a chronic subdural hematoma with mild midline shift.
MRI and In Vivo Spectroscopy of the Brain
- ChemistryPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
- 2022
References
SHOWING 1-10 OF 53 REFERENCES
Congenital disorders of glycosylation: a booming chapter of pediatrics.
- MedicineCurrent opinion in pediatrics
- 2004
It is strongly recommended that congenital disorders of glycosylation be considered in any child with an unexplained clinical syndrome, especially in children with a neurologic or a multisystem disease.
Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.
- MedicineMolecular genetics and metabolism
- 2001
The results suggest that the clinical manifestations of PMI deficiency, although serious in childhood, can improve with age, even without mannose therapy, and allow for a normal adult life.
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
- BiologyThe Journal of clinical investigation
- 2001
Retroviral-based expression of the normal Lec35 cDNA in primary fibroblasts of patients restored normal lipid-linked oligosaccharide biosynthesis and it was concluded that mutations in the Lec 35/MPDU1 gene cause CDG.
Delayed umbilical bleeding--a presenting feature for factor XIII deficiency: clinical features, genetics, and management.
- MedicinePediatrics
- 2002
The importance of recognizing delayed umbilical hemorrhage as a presenting feature for congenital FXIII deficiency is demonstrated, and the value of early diagnosis and prophylaxis is demonstrated.
A Unique Pattern of Coagulation Abnormalities in Carbohydrate-Deficient Glycoprotein Syndrome
- Medicine, BiologyPediatric Research
- 1993
A systematic study of factors and inhibitors in nine patients with carbohydrate-deficient glycoprotein syndrome showed a decreased activity of factor XI and of the coagulation inhibitors antithrombin III and protein C, which could explain the stroke-like episodes occurring in these children.
Gastrointestinal and Other Clinical Manifestations in 17 Children With Congenital Disorders of Glycosylation Type Ia, Ib, and Ic
- MedicineJournal of pediatric gastroenterology and nutrition
- 2004
The study confirms the heterogeneity of the clinical picture in children with CDG type Ia, Ib, and Ic, and confirms that children with protein-losing enteropathy should be tested for CDG.
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.
- Biology, MedicineMolecular genetics and metabolism
- 2005
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.
- Medicine, BiologyBiochemical and biophysical research communications
- 1998
Serum transferrin isoelectric focusing showed increased asialo- and disialotransferrin isoforms as seen in the carbohydrate-deficient glycoprotein (CDG) syndrome type I, which suggested a defect in the early glycosylation pathway.
A new variant of the carbohydrate deficient glycoproteins syndrome
- Medicine, BiologyJournal of Inherited Metabolic Disease
- 2005
A patient with some unusual features suggestive of a new variant of the 'carbohydrate deficient glycoproteins syndrome' is presented, which was reported on in five girls manifesting with severe neurological disturbances, variable hepatomegaly, abnormal subcutaneous fat depositions and skeletal anomalies.
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications
- Medicine, BiologyJournal of Inherited Metabolic Disease
- 2004
Normal glycosylation of platelet glycoproteins in CDG Ia enhances nonspecific platelet interactions, in agreement with a thrombotic tendency, and the reduced GP Ib-mediated platelet reactivity with vessel wall components in the CDG IIa patient under flow conditions provides a basis for his bleeding tendency.

