Published online June 30, 2006
PEDIATRICS Vol. 118 No. 2 August 2006, pp. e514-e521 (doi:10.1542/10.1542/peds.2005-1307)

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EXPERIENCE AND REASON

Intracranial Hemorrhage as the Initial Manifestation of a Congenital Disorder of Glycosylation

Ronald D. Cohn, MD^a, Erik Eklund, MD, PhD^b, Amanda L. Bergner, MS, CGC^a, James F. Casella, MD^c, S. Lee Woods, MD^d, Janyne Althaus, MD^e, Karin J. Blakemore, MD^e, Harold E. Fox, MD^e, Julie E. Hoover-Fong, MD^a, Ada Hamosh, MD^a, Nancy E. Braverman, MD^a, Hudson H. Freeze, PhD^b and Simeon A. Boyadjiev, MD^a

^a McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland
^c Divisions of Hematology
^d Neonatology, Department of Pediatrics
^e Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology
^b Glycobiology and Carbohydrate Chemistry Program, Burnham Institute for Medical Research, La Jolla, California

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.

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Key Words: intracranial hemorrhage • congenital • glycosylation disorder

Abbreviations: CDG, congenital disorder(s) of glycosylation • ESI-MS, electrospray-ionization mass spectrometry • DOL, day of life • EEG, electroencephalography

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Accepted Jan 27, 2006.

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