PMM2-CDG

PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

Stroke

Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.

Total: 2

(per page)

PMID (PMCID)
17308246	FEMALE	Child
	Radiologic and neurophysiologic aspects of stroke-like episodes in children with congenital disorder of glycosylation type Ia.
	Dinopoulos A, Mohamed I, Jones B, Rao S, Franz D, deGrauw T. Pediatrics. 2007;119(3):e768-72.
	Epileptic phenomena can complicate the stroke-like events of patients with congenital disorder of glycosylation type Ia, and the cause of the hemiparesis may indeed be an active epileptic inhibitory process.
17308246	FEMALE	Child
	Radiologic and neurophysiologic aspects of stroke-like episodes in children with congenital disorder of glycosylation type Ia.
	Dinopoulos A, Mohamed I, Jones B, Rao S, Franz D, deGrauw T. Pediatrics. 2007;119(3):e768-72.
	In an effort to shed light on the mechanism of hemiparetic stroke-like events experienced by patients with congenital disorder of glycosylation type Ia, we evaluated 3 children with this disorder by brain imaging studies and continuous electroencephalogram monitoring during such events.