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Table 1 Zellweger syndrome patients diagnosed in Saguenay-Lac-St-Jean

From: A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

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

  1. VLCFA: very long chain fatty acid; PLG: plasmalogen; CVS: chorionic villous sample; VSD: ventricular septal defect; ASD: atrial septal defect; ND: not done
  2. 1Normal values: plasma 0.33 ±0.18 μg/mL (mean ± SD) or 0.11 – 0.89 μM (5th-95th centile), CVS 0.05 ±0.02 μg/mg (mean ± SD); 2Normal values: plasma 0 – 0.030 (5th-95th centile), CVS 0.10 ±0.04 (mean ± SD), 3 Ratio of 3 H (ER steps in plasmalogen synthesis) and 14C (peroxisomal steps in plasmalogen synthesis)): normal 0.67 ± 0.19 (mean ± SD) and ZSD 9.92 ± 4.4. 4A1 and B1 were diagnosed prior the establishment of the VLCFA reference laboratory in Quebec.