Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation
(2006) In Pediatrics 118(2). p.21-514- Abstract
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 a well-known clinical complication of several types of congenital disorders of glycosylation, intracranial hemorrhage has not been reported as an initial manifestation of this entity. Here we report the detailed history of a family with 2... (More)
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 a well-known clinical complication of several types of congenital disorders of glycosylation, intracranial hemorrhage has not been reported as an initial manifestation of this entity. Here we report the detailed history of a family with 2 consecutive male infants, both born at term with intracranial hemorrhage diagnosed within the first 24 hours of life. The diagnosis of a congenital disorder of glycosylation was established in the second infant by an abnormal glycosylation of serum transferrin detected by electrospray-ionization mass spectrometry. Both infants showed significant neurologic deterioration during the first month of life, and both died at 5 months of age. Intracranial hemorrhage in a term neonate without a potential precipitating factor represents yet another clinical feature that should raise the suspicion for a congenital disorder of glycosylation.
(Less)
- author
- publishing date
- 2006
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Apnea/etiology, Brain/pathology, Carbohydrate Metabolism, Inborn Errors/blood, Cerebral Hemorrhage/congenital, Cholelithiasis/etiology, Clubfoot, Contracture/congenital, Fatal Outcome, Glycoproteins/metabolism, Glycosylation, Hematoma, Subdural/etiology, Humans, Infant, Newborn, Magnetic Resonance Imaging, Male, Muscle Hypertonia/etiology, Protein Processing, Post-Translational/genetics, Respiratory Insufficiency/etiology, Spectrometry, Mass, Electrospray Ionization, Transferrin/chemistry, alpha-2-Antiplasmin/deficiency
- in
- Pediatrics
- volume
- 118
- issue
- 2
- pages
- 21 - 514
- publisher
- American Academy of Pediatrics
- external identifiers
-
- scopus:33748435829
- pmid:16816004
- ISSN
- 1098-4275
- DOI
- 10.1542/peds.2005-1307
- language
- English
- LU publication?
- no
- id
- 40677b8b-6c4d-4c1d-8e3a-a0e0eec5cce9
- date added to LUP
- 2021-10-11 23:59:43
- date last changed
- 2024-01-05 18:00:44
@article{40677b8b-6c4d-4c1d-8e3a-a0e0eec5cce9,
abstract = {{<p>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 a well-known clinical complication of several types of congenital disorders of glycosylation, intracranial hemorrhage has not been reported as an initial manifestation of this entity. Here we report the detailed history of a family with 2 consecutive male infants, both born at term with intracranial hemorrhage diagnosed within the first 24 hours of life. The diagnosis of a congenital disorder of glycosylation was established in the second infant by an abnormal glycosylation of serum transferrin detected by electrospray-ionization mass spectrometry. Both infants showed significant neurologic deterioration during the first month of life, and both died at 5 months of age. Intracranial hemorrhage in a term neonate without a potential precipitating factor represents yet another clinical feature that should raise the suspicion for a congenital disorder of glycosylation.</p>}},
author = {{Cohn, Ronald D and Eklund, Erik and Bergner, Amanda L and Casella, James F and Woods, S Lee and Althaus, Janyne and Blakemore, Karin J and Fox, Harold E and Hoover-Fong, Julie E and Hamosh, Ada and Braverman, Nancy E and Freeze, Hudson H and Boyadjiev, Simeon A}},
issn = {{1098-4275}},
keywords = {{Apnea/etiology; Brain/pathology; Carbohydrate Metabolism, Inborn Errors/blood; Cerebral Hemorrhage/congenital; Cholelithiasis/etiology; Clubfoot; Contracture/congenital; Fatal Outcome; Glycoproteins/metabolism; Glycosylation; Hematoma, Subdural/etiology; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Muscle Hypertonia/etiology; Protein Processing, Post-Translational/genetics; Respiratory Insufficiency/etiology; Spectrometry, Mass, Electrospray Ionization; Transferrin/chemistry; alpha-2-Antiplasmin/deficiency}},
language = {{eng}},
number = {{2}},
pages = {{21--514}},
publisher = {{American Academy of Pediatrics}},
series = {{Pediatrics}},
title = {{Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation}},
url = {{http://dx.doi.org/10.1542/peds.2005-1307}},
doi = {{10.1542/peds.2005-1307}},
volume = {{118}},
year = {{2006}},
}