Congenital Disorder of Glycosylation in a Child with Macrosomia

Abstract

Clinical History and Background An 18-month-old presented with hypotonia, developmental delay, macrosomia, macrocephaly, right ptosis, strabismus, and sacral dimples. Birth was term to a 32-year-old gravida 1 para 0 > 1 mother with a birth weight 4.3 kg, length 53.3 cm, and occipital frontal circumference 38 cm. On physical exam, weight was at 89, length 48, body mass index 99, occipital frontal circumference >99 (Z-score +2.85) percentiles. In addition, frontal bossing, prominent forehead, dolichocephaly, bi-temporal narrowing, ridging along sagittal suture, and shawl scrotum were noted. Head ultrasound demonstrated extra subarachnoid spaces. Brain magnetic resonance imaging identified periventricular white matter, T2 hyperintensities, thickened superior aspect of dens soft tissue, and mild hypoplasia of the posterior arch of C1 without C2 spinal canal stenosis. Differential diagnosis included chromosome aberration, monogenic disorder, methylation defect, trinucleotide repeat disorder, lyso-somal storage disorder, and inborn errors of metabolism.