title: Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage.
abstract: The congenital disorder of glycosylation characterized by a deficiency of phosphomannomutase 2 (PMM2-CDG) is the most common variant of congenital disorders of glycosylation. Besides typical clinical features, such as dysmorphism and abnormal body fat distribution, coagulation abnormities often lead to thromboembolic and hemorrhagic events in these patients. However, only 2 cases of intracerebral bleeding in patients with PMM2-CDG have been described so far. A 4-year-old girl who initially presented with symptoms resulting from raised intracranial pressure underwent acute neurosurgical intervention for intracranial hemorrhage. The differential diagnoses after MRI included arteriovenous malformation and intraparenchymal brain tumor. However, clinical investigations promoted the diagnosis of PMM2-CDG, which was supported further by neuropathological findings and finally confirmed by isoelectric focusing and mutational analysis. No major complications or neurological deficits were evident after surgery, and the patient was able to attend an integrated kindergarten. Unexplained intracranial hemorrhage should raise suspicion of a metabolic disorder and should be discussed with specialists to rule out an orphan disease such as PMM2-CDG.
authors.affiliation: Departments of Neurosurgery and.
authors.forename: Harald
authors.initials: H
authors.lastname: Stefanits
authors.forename: Vassiliki
authors.initials: V
authors.lastname: Konstantopoulou
authors.forename: Magnus
authors.initials: M
authors.lastname: Kuess
authors.forename: Ivan
authors.initials: I
authors.lastname: Milenkovic
authors.forename: Christian
authors.initials: C
authors.lastname: Matula
mesh_terms: D002543:Cerebral Hemorrhage / Q000601:surgery*; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis*; D004252:DNA Mutational Analysis; D005260:Female; D006031:Glycosylation; D006801:Humans; D008279:Magnetic Resonance Imaging; D019635:Neurosurgical Procedures; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency*
chemical_list: D017875:Phosphotransferases (Phosphomutases)
keywords: AT III = antithrombin III; CDG = congenital disorder of glycosylation; CDG1a; PMM2 = phosphomannomutase 2; PMM2-CDG deficiency; PNET = primitive neuroectodermal tumor; disordered blood clotting; intracerebral hemorrhage; vascular disorders