Vol. 35 (2) 2014 Neuro endocrinology letters

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.

OBJECTIVES: A 10-year-old boy presented with cleft palate, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, hypoglycemia, hyperuricemia, short stature, obesity, hypothyroidism, microcephaly and mild intellectual disability. The multi-systemic manifestation involving certain distinct clinical features prompted us.....