PDF herunterladen
Am J Perinatol 2000; Volume 17(Number 04): 201-206
DOI: 10.1055/s-2000-9419
Copyright © 2000 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

PERINATAL LETHAL FORM OF GAUCHER'S DISEASE PRESENTING WITH HEMOSIDEROSIS

Renu Sharma, Mark L. Hudak, Anthony A. Perszyk2 , Bangalore R. Premachandra, Hongbo Li1 , Carmela Monteiro1
  • Departments of Pediatrics
  • 1Pathology at the University of Florida Health Science Center, and the
  • 2Division of Genetics, Nemours Children's Clinics, Jacksonville, Florida
Weitere Informationen

Publikationsverlauf

Publikationsdatum:
31. Dezember 2000 (online)

Auch verfügbar auf
   Lizenzen und Reprints

ABSTRACT

A term infant with hydrops fetalis presented with hypotonia, massive splenomegaly, renal failure, and severe hyperferritinemia. Multiple organ failure, myoclonus, and opisthotonus ensued and she died at 15 days of age. High rounded forehead, large open fontanel, and a small recessed chin led to initial premortem diagnosis of Zellweger syndrome, but her plasma profile of long chain fatty acid was normal. Her subsequent clinical course and findings of postmortem examinations were consistent with perinatal lethal form of Gaucher's disease (PLGD). The diagnosis was confirmed by deficiency of enzyme beta-glucocerebrosidase in white blood cells and in cultured fibroblasts. In addition to the crossover features of Zellweger phenotype, this infant exhibited a number of unusual features including, severe hyperferritinemia, rapid progression of splenomegaly, and absence of icthyosis.

KEYWORD

Perinatal lethal form of Gaucher's disease - nonimmune hydrops fetalis - hyperferritinemia - splenomegaly in neonate - icthyosis

REFERENCES

  • 1 Beutler E, Grabowski G A. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease New York: McGraw-Hill 1995: 2641-2670
    Suche in Google Scholar
  • 2 Tayebi N, Reissner K J, Lau E K. Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.  Pediatr Res . 1998;  43 571-578
    CrossrefPubMedSuche in Google Scholar
  • 3 Erikson A, Bembi B, Schiffmann R. Neuronopathic forms of Gaucher's disease.  Balliere's Clin Haematol . 1997;  10 711-723
    PubMedSuche in Google Scholar
  • 4 Sidransky E. New perspectives in type 2 Gaucher's disease.  Adv Pediatr . 1997;  44 73-107
    PubMedSuche in Google Scholar
  • 5 Stone D L, Van Diggelen O P, De Klerk J B. Is the perinatal lethal form of Gaucher's disease more common than classic type 2 Gaucher's disease?.  Eur J Hum Genet . 1999;  7 505-509
    PubMedSuche in Google Scholar
  • 6 Tybulewicz V, Tremblay M L, LaMarca M E. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.  Nature . 1992;  357 407-410
    CrossrefPubMedSuche in Google Scholar
  • 7 Chang C C, Gould S. Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenes disorders.  Am J Hum Genet . 1998;  52 1294-1306
    PubMedSuche in Google Scholar
  • 8 Peters S P, Coyle P, Glew R H. Differentiation of beta-glucosidase in human tissues using sodium taurocholate.  Arch Biochem Biophys . 1976;  175 569-592
    CrossrefPubMedSuche in Google Scholar
  • 9 Sidransky E, Sherer D M, Ginns E I. Gaucher's disease in the neonate: a distinct Gaucher's phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.  Pediatr Res . 1992;  32 494-498
    PubMedSuche in Google Scholar
  • 10 Tayebi N, Cushner S R, Kleijer W. Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.  Am J Med Genet . 1997;  73 41-47
    CrossrefPubMedSuche in Google Scholar
  • 11 Hansen W F, Katz V L, Watson W J, Bethea M. Gaucher's disease and non-immune hydrops.  J Mat Fet Med . 1992;  1 56-59
    PubMedSuche in Google Scholar
  • 12 Lui K, Commens C, Choong R, Jaworski R. Collodion babies with Gaucher's disease.  Arch Dis Child . 1988;  63 854-856
    PubMedSuche in Google Scholar
  • 13 Sherer D M, Metlay L A, Sinkin R A, Monfeon C, Lee R E, Woods J R. Congenital icthyosis with restrictive dermopathy and Gaucher's disease: a new syndrome with associated prenatal diagnostic and pathology findings.  Obstet Gynecol . 1993;  81 842-844
    PubMedSuche in Google Scholar
  • 14 Prierto J, Barry M, Sherlock S. Serum ferritin in patients with iron overload and with acute and chronic liver disease.  Gastroenterology . 1975;  68 525
    PubMedSuche in Google Scholar
  • 15 Pastores G M. Pathological features.  Balliere's Clin Haematol . 1997;  10 739-749
    PubMedSuche in Google Scholar
  • 16 Aerts J MFG, Hollak C EM. Plasma and metabolic abnormalities in Gaucher's disease.  Balliere's Clin Haematol . 1997;  10 691-709
    PubMedSuche in Google Scholar
  • 17 Schiano T D, Grinberg M, Nawabi I. Blue nasal secretions: A presentation of Gaucher's disease and concurrent hemosiderosis.  Am J Hematol . 1993;  44 219-220.
    PubMedSuche in Google Scholar
  • 18 Page A, Anderson W, Kleinman C S, Lister G, Talner N S. Cardiovascular function during normal fetal and neonatal development and with hypoxic stress. In: Polin RA, Fox WW, eds. Fetal and Neonatal Physiology Philadelphia: WB Saunders Co 1998: 837-890
    Suche in Google Scholar
  • 19 Holleran W M, Ginns E I, Menon G K. Consequences of β-glucocerebrosidase deficiency in epidermis: ultrastructure and permeability barrier alterations in Gaucher's disease.  J Clin Invest . 1994;  93 1756-1764
    PubMedSuche in Google Scholar
  • 20 Sidransky E, Fartasch M, Lee R E. Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher's disease.  Pediatr Res . 1996;  39 134-141
    PubMedSuche in Google Scholar
  • 21 Fujimoto A, Tayebi N, Sidransky E. Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher's disease.  Am J Med Genet . 1995;  356-358
    PubMedSuche in Google Scholar
  • 22 Brito T, Gomes D R, Penna D O, Camargo M E. Glomerular involvement in Gaucher's disease. A light, immunofluorescent, and ultrastructural study based on kidney biopsy specimens.  Arch Pathol . 1973;  95 1
    PubMedSuche in Google Scholar
  • 23 Frederickson D S, Sloan H R. Glucosyl ceramide lipidoses: Gaucher's disease. In: Stanbury JB, Wyngarden JB, Frederickson DS, eds. The Metabolic Basis of Inherited Diseases New York: McGraw-Hill 1972: 730-759
    Suche in Google Scholar
  • 24 Kaye E M, Ulman M D, Wilson E R, Barranger J A. Type 2 and type 3 Gaucher's disease: a morphological and biochemical study.  Ann Neurol . 1986;  20 223-230
    CrossrefPubMedSuche in Google Scholar
  • 25 Grabowski GA and Horowitz M. Gaucher's disease: Molecular, genetic and enzymological aspects.  Balliere's Clin Haematol . 1997;  10 635-656
    PubMedSuche in Google Scholar
  • 26 Grace M E, Ashton-Prolla P, Pastores G M, Soni A, Desnick R J. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 Gaucher's disease.  J Clin Invest . 1999;  103 817-823
    PubMedSuche in Google Scholar