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Congenital disorders of glycosylation encompass a group of diseases resulting from abnormal protein glycosylation. This group includes more than 20 described diseases.1 PMM2-CDG, previously referred to as congenital disorder of glycosylation type 1a (CDG 1a), is the most common of the congenital disorders of glycosylation. PMM2-CDG is associated with autosomal recessive inheritance of a mutation in the PMM2 gene. This mutation causes a deficiency of phosphomannomutase, an enzyme coded by PMM2 , and results in decreased GDP-mannose production, abnormal glycosylation of N-linked oligosaccharides, and clinical manifestations.Classically, PMM2-CDG presents in infancy with hypotonia, abnormal fat distribution (accumulation in the buttocks and suprapubic areas), inverted nipples, developmental delay, feeding difficulties, failure to thrive, and esotropia. Infants with PMM2-CDG may have severe multisystemic involvement with up to a 20% mortality rate, but a nonfatal neurologic form has also been observed.2 Currently, more than 100 different mutations in PMM2 have been described and may impact the clinical phenotype.3 We present a patient diagnosed with PMM2-CDG just prior to 4 years of life with primarily neurologic symptoms.Our patient was born at 37 weeks via spontaneous vaginal delivery with no reported complications. Mother reported normal fetal movement. Birthweight was 4,300 g (97th percentile), length was 48 cm (50th percentile), and head circumference was 34.5 cm (50th percentile). During the newborn period, our patient had a short period of feeding difficulty involving gagging and spitting up which seemed to improve after changing formulas.Within the first 2 weeks of life, she was observed to have daily episodes consisting of conjugate …

Child Neurology: A case of PMM2-CDG (CDG 1a) presenting with unusual eye movements