@2024 Afarand., IRAN
ISSN: 2251-8215 Sarem Journal of Reproductive Medicine 2018;2(3):
ISSN: 2251-8215 Sarem Journal of Reproductive Medicine 2018;2(3):
Farber Disease or Lipogranulomatosis; 4 Case Reports of New Mutations in the Ceramidase Gene
ARTICLE INFO
Article Type
Case ReportAuthors
Hadipour F. (1)Hadipour Z. (1)
Tavassoli A.R. (2)
Shafaghati Y. (*)
(*) Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran
(1) Genetic Department, Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran
(2) Children's Medical Center, Medicine Faculty, Tehran University of Medical Sciences, Tehran, Iran
Correspondence
Address: Sarem Women’s Hospital, Basij Square, Phase 3, Ekbatan Town, Tehran, Iran. Postal Code: 1396956111Phone: +98 (21) 44670888
Fax: +98 (21) 44670432
dr.yshafagh@gmail.com
Article History
Received: March 2, 2017Accepted: June 21, 2017
ePublished: August 15, 2017
ABSTRACT
Information & Methods
Farber's lipogranulomatosis or ceramidosis is a rare lysosomal storage disease with autosomal recessive transmission. This disease is caused by the ceramidase acid deficiency, which leads to the accumulation of ceramides in the tissues. Children with a clear neuropathy die early in infancy, and those with no or negligible neurologic symptoms develop malignant deformation due to the appearance of granuloma in the joints, subcutaneous nodules, acoustic harshness and respiratory failure, and, ultimately, interstitial pneumonia; they die in the third and fourth decades.
In this study, 6 patients with Farber disease (5 females and 1 male) were examined in the last 7 years. In most patients, clinical symptoms included stiffness of joints and pain, weak cry, and granules around the joints. Three patients had large liver and spleen. All patients were genetically evaluated.
Conclusion We analyzed acid ceramidase gene and detected 4 novel mutations on them. Currently, 3 patients are alive.
Conclusion We analyzed acid ceramidase gene and detected 4 novel mutations on them. Currently, 3 patients are alive.
CITATION LINKS
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[2]Abul-Haj SK, Martz DG, Douglas WF, Geppert LJ. Farber's disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material. J Pediatr. 1962;61:221-32.
[3]Koch J, Gartner S, Li CM, Quintern LE, Bernardo K, Levran O, et al. Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. J Biol Chem. 1996;271(51):33110-5.
[4]Bar J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K. Molecular analysis of acid ceramidase deficiency in patients with Farber disease. Hum mutat. 2001;17(3):199-209.
[5]Zarbin MA, Green WR, Moser HW, Morton SJ. Farber's disease. Light and electron microscopic study of the eye. Archives of ophthalmology (Chicago, Ill: 1960). 1985;103(1):73-80.
[6]Kattner E, Schafer A, Harzer K. Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. Eur j pediatr. 1997;156(4):292-5.
[7]Alves MQ, Le Trionnaire E, Ribeiro I, Carpentier S, Harzer K, Levade T, et al. Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene. Mol Genet Metab. 2013;109(3):276-81.
[8]Ben-Yoseph Y, Gagne R, Parvathy MR, Mitchell DA, Momoi T. Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease. Clin Genet. 1989;36(1):38-42.
[2]Abul-Haj SK, Martz DG, Douglas WF, Geppert LJ. Farber's disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material. J Pediatr. 1962;61:221-32.
[3]Koch J, Gartner S, Li CM, Quintern LE, Bernardo K, Levran O, et al. Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. J Biol Chem. 1996;271(51):33110-5.
[4]Bar J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K. Molecular analysis of acid ceramidase deficiency in patients with Farber disease. Hum mutat. 2001;17(3):199-209.
[5]Zarbin MA, Green WR, Moser HW, Morton SJ. Farber's disease. Light and electron microscopic study of the eye. Archives of ophthalmology (Chicago, Ill: 1960). 1985;103(1):73-80.
[6]Kattner E, Schafer A, Harzer K. Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. Eur j pediatr. 1997;156(4):292-5.
[7]Alves MQ, Le Trionnaire E, Ribeiro I, Carpentier S, Harzer K, Levade T, et al. Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene. Mol Genet Metab. 2013;109(3):276-81.
[8]Ben-Yoseph Y, Gagne R, Parvathy MR, Mitchell DA, Momoi T. Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease. Clin Genet. 1989;36(1):38-42.