Phenotypic continuum of type 2 Gaucher's disease: An intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease

Journal of Perinatology

Volumn 29, Issue 2, 2009, Pages 170-172

  Ben Turkia, H ^a   Tebib, N ^a   Azzouz, H ^a   Abdelmoula, M S ^a   Ben Chehida, A ^a   Caillaud, C ^b   Ben Dridi, M F ^a  

^a LA RABTA HOSPITAL   (Tunisia)

^b Cochin Hospital ^*  (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTHROPOMETRIC PARAMETERS; ARTICLE; BILE DUCT ATRESIA; BONE MARROW BIOPSY; CASE REPORT; DEGENERATIVE DISEASE; DIFFERENTIAL DIAGNOSIS; DIGESTIVE SYSTEM HEMORRHAGE; DISEASE SEVERITY; ERYTHROPHAGOCYTOSIS; FACE DYSMORPHIA; GAUCHER DISEASE; HEMATOLOGIC DISEASE; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRAUTERINE GROWTH RETARDATION; JAUNDICE; LABORATORY TEST; LUNG DISEASE; MALE; NEUROLOGIC DISEASE; NEWBORN; NEWBORN MORTALITY; PHENOTYPE; PHYSICAL EXAMINATION; RECURRENT DISEASE; RESPIRATORY DISTRESS; RESUSCITATION; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA;

FEMALE; GAUCHER DISEASE; HUMANS; INFANT, NEWBORN; MALE; PHENOTYPE;

EID: 59549092031     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/jp.2008.179     Document Type: Article

References (11)

1. Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease Mc Graw-Hill, New York 2001; 3635-3668.
2. Tayebi N, Stone DL, Sidransky E. Type 2 Gaucher disease: An expanding phenotype. Mol Genet Metab 1999; 68: 209-219.
3. Mignot C, Doummar D, Maire I, De Villemeur TB. French Type 2 Gaucher Disease Study Group. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev 2006; 28: 39-48.
4. Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F et al Perinatal-lethal Gaucher disease. Am J Med Genet A 2003; 120: 338-344.
5. Eblan MJ, Goker-Alpan O, Sidransky E. Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum. Fetal Pediatr Pathol 2005; 24(4-5): 205-222.
6. Zay A, Choy FY, Macleod P, Tan-Dy CR. Perinatal lethal Gaucher's disease without prenatal complications. Clin Genet 2008; 73: 191-195.
7. Cormand B, Grinberg D, Gort L, Chaba's A, Vilageliu L. Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome. Hum Mutat 1998; 11: 295-305.
8. Barbier C, Devisme L, Dobbelaere D, Noizet O, Nelken B, Gottrand F. Neonatal cholestasis and infantile Gaucher disease: A case report. Acta Paediatr 2002; 91: 1399-1401.
9. Holleran WM, Ziegler SG, Goker-Alpan O, Eblan MJ, Elias PM, Schiffmann Re et al. abnormalities as an early predictor of neurologic outcome in Gaucher disease. Clin Genet 2006; 69: 355-357.
10. Choulot JJ, Bargiarelli M, Saint-Martin J. Portal hypertension complicating Gaucher's disease. Arch Fr Pediatr 1981; 38: 267-268.
11. Lachmann RH, Wight DG, Lomas DJ, Fisher NC, Schofield JP, Elias E et al. Massive hepatic fibrosis in Gaucher's disease: clinico-pathological and radiological features. QJM 2000; 93 237-244.