Subscribe to RSS
DOI: 10.1055/s-2000-9419
PERINATAL LETHAL FORM OF GAUCHER'S DISEASE PRESENTING WITH HEMOSIDEROSIS
Publication History
Publication Date:
31 December 2000 (online)
![](https://www.thieme-connect.de/media/ajp/200004/lookinside/thumbnails/10.1055-s-2000-9419-1.jpg)
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
- 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
- 3 Erikson A, Bembi B, Schiffmann R. Neuronopathic forms of Gaucher's disease. Balliere's Clin Haematol . 1997; 10 711-723
- 4 Sidransky E. New perspectives in type 2 Gaucher's disease. Adv Pediatr . 1997; 44 73-107
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 12 Lui K, Commens C, Choong R, Jaworski R. Collodion babies with Gaucher's disease. Arch Dis Child . 1988; 63 854-856
- 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
- 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
- 15 Pastores G M. Pathological features. Balliere's Clin Haematol . 1997; 10 739-749
- 16 Aerts J MFG, Hollak C EM. Plasma and metabolic abnormalities in Gaucher's disease. Balliere's Clin Haematol . 1997; 10 691-709
- 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.
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 25 Grabowski GA and Horowitz M. Gaucher's disease: Molecular, genetic and enzymological aspects. Balliere's Clin Haematol . 1997; 10 635-656
- 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