H. Antoun et al., Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1, PEDIAT RAD, 29(3), 1999, pp. 194-198
We report three children, all younger than 2 years of age, presenting with
cerebellar atrophy related to carbohydrate-deficient glycoprotein syndrome
type 1, an autosomal recessive metabolic disease. One patient had multisyst
em disease; two others had mental retardation with ataxia, In all cases the
cerebellar atrophy was diagnosed on magnetic resonance imaging and, in one
case, confirmed by autopsy, The cerebellar atrophy predominantly affected
the anterior lobe. Vertical orientation of the tentorium cerebelli from the
neonatal period in two cases suggests antenatal onset of the disease. Biol
ogical tests confirmed the diagnosis in all cases.