Clinical manifestations and laboratory investigations in CDG Ib, Ic, and Ix patients
| Patients | ||||||
|---|---|---|---|---|---|---|
| 21 | 22 | 23 | 24 | 25 | 26 | |
| Sex | M | F | F | F | F | F |
| First symptom | D | H | N | N | T | O |
| Age at diagnosis | AD | 3 mth | 9 y | 9 mth | 2 mth | 3 mth |
| Neurological symptoms | ||||||
| Hypotonia | + | + | + | + | + | + |
| Strabismus | − | − | − | − | − | − |
| Cerebellar hypoplasia | − | − | − | − | − | + |
| Psychomotor retardation | − | − | + | + | + | + |
| Areflexia | − | − | + | − | − | − |
| Seizures | − | − | + | + | − | + |
| ERG alteration | − | − | ND | + | − | − |
| Digestive symptoms | ||||||
| Failure to thrive (−SD) | 3 | 4 | − | − | 3 | 2.5 |
| Diarrhoea | + | + | − | − | − | + |
| Vomiting | + | + | − | − | − | − |
| Hepatomegaly | + | + | − | − | + | + |
| Steatorrhoea | + | + | − | − | − | − |
| Oedema | + | − | − | − | − | + |
| Liver histology | FSC | ND | ND | ND | ND | FCS |
| Gut histology | VLy | ND | ND | ND | ND | n |
| Renal anomaly | ||||||
| Tubulopathy | + | − | − | − | + | − |
| Renal cysts | + | + | − | + | + | + |
| Cardiac failure | ||||||
| Pericarditis | − | − | − | − | − | − |
| Cardiomyopathy | − | − | − | − | − | − |
| Death (mth) | 18 | − | − | − | 6 | |
| Present age (y) | − | 1.3 | 10 | 2 | 2.5 | − |
| Type CDGS | Ib | Ib | Ic | Ix | Ix | Ix |
| Mutations | S102L | Y255C | S170I | |||
| M138T | I399T | DeltaL444 | ||||
F: female; M: male; N: neurological manifestations; O: oedema; T: tubulopathy; D: diarrhoea; H: hypoglycaemia; ND: not done; S: steatosis; C: cirrhosis; F: fibrosis; n: normal; V: intestinal villous atrophy; Ly: lymphangiectasia; AD: after death; +: present; −: absent.