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.
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
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.
