Table 3 Comparison between our proband and previously reported patients with neonatal lethal form of CPTII deficiency
Authors | Genetic variants | Clinical features | Laboratory tests | Enzymatic activity | Day of exitus |
|---|---|---|---|---|---|
Taroni et al., 1994 [3] | c.680 C> T p.(Pro227Leu) | Respiratory distress Cardiac arrhythmia Heart failure Cardiomyopathy Polymicrogyria Intraventricular haemorrhage | <15% | 4 | |
Smeets et al., 2003 [24] | c.534_558del25insT and c.520G> A p.(Leu178_Ile186delinsPhe) and p.(Glu174Lys) (compound heterozygosity) | Lethargy Cardiac arrhythmias Cardiomegaly | 2% | 10 | |
Isackson et al., 2008 [2] | c.680 C> T p.(Pro227Leu) c.164 C> G p.(Pro55Arg) c.359 A> G p.(Tyr120Cys) (each mutation for a different patient) | Hypothermia Seizures Polycystic kidney Periventricular calcifications Hypoketotic hypoglycaemia Ventricular arrhythmia | Acylcarnitines | 3 to 14 | |
Elpeleg et al., 2001 [25] | c.1237 A> G p.(Phe448Leu) | Corpus callosum agenesis Ventriculomegaly Polycystic kidneys/tubular lipidosis Cardiomegaly Hepatic steatosis (autoptic findings) | Unknown | Abortion | |
Hissink-Muller et al., 2009 [15] | c.680 C> T p.(Pro227Leu) | Cardiomegaly Cardiac arrhythmias | Acylcarnitines | Unknown | 196 |
Present report | c.680 C> T p.(Pro227Leu) | Renal insufficiency Nephromegaly Kidney hyperechogenicity Cardiac arrhythmias Hydrocephalus Encephalic subependymal calcification and parenchymal haemorrhagic foci | Acylcarnitines Metabolic acidosis Hyperkalemia Increased cardiac enzymes Hypertransaminasemia | Unknown | 5 |