Table 1 Clinical and laboratory investigations of the studied CDG cases
SLC35A2-CDG | SRD5A3-CDG | |
|---|---|---|
Age at diagnosis | 3 year | 1 10/12 year |
Milestones | Delayed | Delayed |
Neurological assessment | Hypotonia with preserved reflexes Good sensation and coordination | Axial hypotonia Limb hypertonia Grasped hands Brisk reflexes |
Fundus examination | Normal | Bilateral optic nerve hypoplasia, mottle fundus Marked reduced scotopic in both eyes Bilateral low amplitude in VEP Rotatory nystagmus |
Anthropometric measurements | Weight 12.5 kg (− 1.5SD), Length 85 (− 2.1SD) and Head circumference 45 cm(-3.4SD) | Weight 9.1 kg (− 2.3SD) Length 82 cm (− 0.5SD) Head circumference 44.5 cm (− 2.5SD) |
MRI | Short malformed corpus callosum Inferior vermis hypoplasia (Fig. 2, top images) | Mild prominent cortical sulci frontally dilated lateral ventricles Abnormal white matter signal at T-FLAIR Significant reduction of vermian size (Fig. 2, bottom images) |
EEG | Bitemporal epileptogenic activity | Bilateral temporoparietal epileptogenic discharge |
Facies | Long face Narrow forehead Straight and down slanting eyebrows Synophrys Depressed nasal bridge Bulbous nasal tip Long philtrum Straight lips Flat chin Low set ears with folded helix | Long face Trichomegaly Prominent nose Low set large ears |
Bone | Delayed bone age. The hands showed single transverse palmar creases and hypoplastic distal phalanges of the 5th finger bilaterally | The left congenital hip dislocation was identified at the age of 8 months |
Serum transferrin isoelectric focusing | Increased mono-, di-, and tri-sialotransferrin (Additional file 1: Figure S1) | Increased asialyl-, mono-, di-, and tri-sialotransferrin (Additional file 1: Figure S1) |