Family- patient# | Age of death (months) | Clinical presentation | VLCFA C26:01 | VLCFA C26 / C222 | PLG synthesis3 | Liver biopsy |
---|---|---|---|---|---|---|
A1 4 | 0.5 | Hypotonia, seizures, brain malformations (hypoplastic corpus callosum, nodular heterotopia, dysplastic dentate nucleus), large fontanelle, clouded cornea, ASD, bilateral microcystic kidneys, elevated liver enzymes, severe jaundice, hepatomegaly with microvesicular steatosis on autopsy, ectopic patellar calcifications. | ND | ND | ND | Absence of peroxisomes |
B1 4 | <12 | Hypotonia, brain malformations (agenesis of corpus callosum, ventriculomegaly), kidney disease (?glomerulosclerosis), cryptorchidism, ectopic patellar calcifications, bilateral club feet. | 2912 μg/ml (plasma) | 0.61 | ND | ND |
C1 | 5 | Prematurity and intrauterine growth retardation, hypotonia, brain malformation (polymicrogyria), large fontanelle, increased nuchal fold, VSD, renal cysts, ectopic patellar and cervical calcifications, agenesis of cervical vertebrae (C3). | 3.37 μM (plasma) | 0.68 | ND | ND |
D1 | 6 | Meconial amniotic fluid, respiratory insufficiency, hypotonia, seizures, nystagmus, deafness, brain malformation (ventriculomegaly), large fontanelle, increased nuchal fold, hepatosplenomegaly, equinovarus deformity, cryptorchidism, ectopic patellar calcifications, low platelets. | 22.53 μM (plasma) | 0.63 | ND | ND |
D2 | 0.5 | Meconial amniotic fluid, respiratory distress, seizures, brain malformations (ventriculomegaly), large fontanelle, congenital cataracts, jaundice, ectopic patellar calcification. | 0.79 μg/mg (CVS) | 2.86 (CVS) | 4.43 (CVS) | ND |