Contribution of Fetal MR Imaging in the Prenatal Diagnosis of Zellweger Syndrome

References

1. ↵
   van den Bosch H, Schutgens RB, Wanders RJ, et al. Biochemistry of peroxisomes. Annu Rev Biochem 1992;61:157–97

   CrossRefPubMedWeb of Science
2. ↵
   Wanders RJ, Tager JM. Lipid metabolism in peroxisomes in relation to human disease. Mol Aspects Med 1998;19:69–154

   PubMed
3. ↵
   Moser AE, Singh I, Brown FR 3rd, et al. The cerebrohepatorenal (Zellweger) syndrome: increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. N Engl J Med 1984;310:1141–46

   CrossRefPubMedWeb of Science
4. ↵
   Setchell KD, Vestal CH. Thermospray ionization liquid chromatography-mass spectrometry: a new and highly specific technique for the analysis of bile acids. J Lipid Res 1989;30:1459–69

   Abstract
5. ↵
   ten Brink HJ, Wanders RJ, Stellaard F, et al. Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency. J Inherit Metab Dis 1991;14:345–48

   PubMed
6. ↵
   Wanders RJ, Purvis YR, Heymans HS, et al. Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: implications for postnatal detection of the disease. J Inherit Metab Dis 1986;9:335–42

   PubMed
7. ↵
   Wanders RJ, Ofman R, Romeijn GJ, et al. Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells. J Inherit Metab Dis 995;18 (suppl 1):90–100
8. ↵
   Brul S, Westerveld A, Strijland A, et al. Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions: a study using complementation analysis. J Clin Invest 1988;81:1710–15
9. ↵
   Shimozawa N, Suzuki Y, Orii T, et al. Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. Am J Hum Genet 1993;52:843–44

   PubMedWeb of Science
10. ↵
    Gould SJ, Valle D. Peroxisome biogenesis disorders: genetics and cell biology. Trends Genet 2000;16:340–45

    CrossRefPubMedWeb of Science
11. ↵
    Carey WF, Poulos A, Sharp P, et al. Pitfalls in the prenatal diagnosis of peroxisomal beta-oxidation defects by chorionic villus sampling. Prenat Diagn 1994;14:813–19

    PubMed
12. ↵
    Moser AB, Rasmussen M, Naidu S, et al. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr 1995;127:13–22

    CrossRefPubMedWeb of Science
13. ↵
    Danks DM, Tippett P, Adams C, et al. Cerebro-hepato-renal syndrome of Zellweger: a report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism. J Pediatr 1975;86:382–87

    CrossRefPubMedWeb of Science
14. ↵
    Kelley RI. Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects. Am J Med Genet 1983;16:503–17

    CrossRefPubMedWeb of Science
15. ↵
    Wilson GN, Holmes RG, Custer J, et al. Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. Am J Med Genet 1986;24:69–82

    CrossRefPubMedWeb of Science
16. ↵
    Gould SJ, Raymond GV, Valle D. Lactic acidemia. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The metabolic basis of inherited diseases. Vol2 . 8th ed. New York: McGraw-Hill;2001 :2275–95
17. ↵
    Johnson JM, Babul-Hirji R, Chitayat D. First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome. Ultrasound Obstet Gynecol 2001;17:344–46

    PubMed
18. ↵
    Sonigo PC, Rypens FF, Carteret M, et al. MR imaging of fetal cerebral anomalies. Pediatr Radiol 1998;28:212–22

    CrossRefPubMedWeb of Science
19. ↵
    Passarge E, McAdams AJ. Cerebro-hepato-renal syndrome: a newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys. J Pediatr 1967;71:691–702

    CrossRefPubMedWeb of Science
20. Volpe JJ, Adams RD. Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration. Acta Neuropathol (Berl)1972;20:175–98

    CrossRefPubMed
21. ↵
    Evrard P, Caviness VS Jr, Prats-Vinas J, et al. The mechanism of arrest of neuronal migration in the Zellweger malformation: an hypothesis bases upon cytoarchitectonic analysis. Acta Neuropathol (Berl)1978;41:109–17

    CrossRefPubMed
22. ↵
    Powers JM, Moser HW. Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol 1998;8:101–20

    PubMedWeb of Science
23. ↵
    Barkovich AJ, Peck WW. MR of Zellweger syndrome. AJNR Am J Neuroradiol 1997;18:1163–70

    Abstract
24. ↵
    Takashima S, Chan F, Becker LE, et al. Cortical cytoarchitectural and immunohistochemical studies on Zellweger syndrome. Brain Dev 1991;13:158–62

    PubMed
25. ↵
    Infante JP, Huszagh VA. On the molecular etiology of decreased arachidonic (20:4n-6), docosapentaenoic (22:5n-6) and docosahexaenoic (22:6n-3) acids in Zellweger syndrome and other peroxisomal disorders. Mol Cell Biochem 1997;168:101–15

    CrossRefPubMed
26. ↵
    Powers JM, Moser HW, Moser AB, et al. Fetal cerebrohepatorenal (Zellweger) syndrome: dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses. Hum Pathol 1985;16:610–20

    PubMed
27. ↵
    van der Knaap MS, Valk J. The MR spectrum of peroxisomal disorders. Neuroradiology 1991;33:30–37

    CrossRefPubMedWeb of Science
28. ↵
    Powers JM, Tummons RC, Moser AB, et al. Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome. Acta Neuropathol (Berl)1987;73:333–43

    CrossRefPubMed
29. ↵
    Nakai A, Shigematsu Y, Nishida K, et al. MRI findings of Zellweger syndrome. Pediatr Neurol 1995;13:346–48

    PubMed
30. ↵
    Panjan DP, Meglic NP, Neubauer D. A case of Zellweger syndrome with extensive MRI abnormalities and unusual EEG findings. Clin Electroencephalogr 2001;32:28–31

    PubMed
31. ↵
    Stone JA, Castillo M. MR in a patient with Zellweger syndrome presenting without cortical or myelination abnormalities. AJNR Am J Neuroradiol 1998;19:1378–79

    PubMed
32. ↵
    Garel C, Chantrel E, Elmaleh M, et al. Fetal MRI: normal gestational landmarks for cerebral biometry, gyration and myelination. Childs Nerv Syst 2003;19:422–25

    CrossRefPubMedWeb of Science
33. ↵
    Barkovich AJ, Lindan CE. Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations. AJNR Am J Neuroradiol 1994;15:703–15

    Abstract/FREE Full Text
34. ↵
    Samson JF, Barth PG, de Vries JI, et al. Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications. Eur J Pediatr 1994;153:510–16

    PubMed
35. ↵
    Moroni I, Bugiani M, Bizzi A, et al. Cerebral white matter involvement in children with mitochondrial encephalopathies. Neuropediatrics 2002;33:79–85

    CrossRefPubMedWeb of Science
36. ↵
    van der Knaap MS, Smit LM, Barth PG, et al. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol 1997;42:50–59

    CrossRefPubMedWeb of Science
37. ↵
    Kato T, Funahashi M, Matsui A, et al. MRI of disseminated developmental dysmyelination in Fukuyama type of CMD. Pediatr Neurol 2000;23:385–88

    PubMed