Table 1

 Clinical picture of four CDG-Ih patients compared with the typical CDG-Ia and Ib presentation

Patient IDGB024315GB0244 (sib of GB0243)NL0097MP4CDG-IaCDG-Ib
SexMFMF
Reduced fetal movements++−−−
Oligohydramnios++−−−
Intrauterine growth retardation+−−−
Cardiorespiratory problems+++
Dysmorphic+++− →+−
Oedema++++
Diarrhoea+−+− →++/++
Vomiting+−− →++/++
Ascites+++− →+++
Central hypotonia++++ →++− →+
Anaemia++− →+
Thrombocytopenia+++
Hypoalbuminaemia+++++++
Coagulopathy+++++
Electrolyte disturbance+++
Raised creatinine++
Low thyroxine++
Abnormal electroretinogram−+Retinitis pigmentosa−
OutcomeDied at 3 monthsDied at 3 daysDied at 3 monthsRequired parenteral nutrition, albumin infusions. Alive at 3 years. Normal developmentMild to severeMild to severe