Unravelling variants in Farber disease: diagnostic and prenatal challenges in atypical presentations

Ehlert K, Frosch M, Fehse N, Zander A, Roth J, Vormoor J (2007) Farber disease: clinical presentation, pathogenesis and a new approach to treatment. Pediatr Rheumatol Online J 5:15

Article  PubMed  PubMed Central  Google Scholar 

Farber S, Cohen J, Uzman LL (1957) Lipogranulomatosis: a new lipoglycoprotein storage disease. J Mt Sinai Hosp N Y 24:816–837

PubMed  Google Scholar 

Farber S (1952) A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease. AMA Am J Dis Child 84(4):499–500

PubMed  Google Scholar 

Sugita M, Dulaney JT, Moser HW (1972) Ceramidase deficiency in Farber’s disease (lipogranulomatosis). Science 178:1100–1102

Article  PubMed  Google Scholar 

Devi AR, Gopikrishna M, Ratheesh R, Savithri G, Swarnalata G, Bashyam M (2006) Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. J Hum Genet 51:811–814

Article  PubMed  Google Scholar 

Ahmad A, Mazhar AU, Anwar M (2009) Farber disease: a rare neurodegenerative disorder. J Coll Phys Surg Pak 19(1):67–68

Google Scholar 

Moser HW, Linke T, Fensom AH, Levade T, Sandhoff K (2001) Acid ceramidase deficiency: Farber lipogranulomatosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited diseases, 8th edn. Mc-Graw Hill, New York, pp 3573–3588

Google Scholar 

Levade T, Sandhoff K, Schulze H, Medin JA (2014) Acid ceramidase deficiency: Farber lipogranulomatosis. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A (eds) Scriver’s OMMBID (online metabolic and molecular bases of inherited diseases). McGraw-Hill, New York

Google Scholar 

Beck M, Moser H, Sandhoff K (2014) Acid ceramidase deficiency: Farber lipogranulomatosis and spinal muscular atrophy associated with progressive myoclonic epilepsy. In: Rosenberg RNPJ (ed) Rosenberg’s molecular and genetic basis of neurological and psychiatric disease. Elsevier, London, pp 395–402

Google Scholar 

Kraoua I, Ben Younes T, Garcia V, Benrhouma H, Klaa H, Rouissi A, Levade T, Ben Y-T (2020) Farber disease: a fatal childhood disorder with nervous system involvement. J Rare Dis Res Treat 5(3):1–4

Article  Google Scholar 

Willis A, VanHuse C, Newton KP, Wasserstein M, Morotti RA (2008) Farber’s disease type IV presenting with cholestasis and neonatal liver failure: report of two cases. Pediatr Dev Pathol 11(4):305–308

Article  PubMed  Google Scholar 

Eviatar L, Sklower SL, Wisniewski K, Feldman RS, Gochoco A (1986) Farber (lipogranulomatosis): an unusual presentation in a black child. Pediatr Neurol 2:371–374

Article  PubMed  Google Scholar 

Fusch C, Huenges R, Moser HW, Sewell AC, Roggendorf W, Kustermann- Kuhn B, Poulos A, Carey WF, Harzer K (1989) A case of combined Farber and Sandhoff disease. Eur J Pediatr 148(6):558–562

Article  PubMed  Google Scholar 

Harzer K, Paton BC, Poulos A, Kustermann-Kuhn B, Roggendorf W, Grisar T, Popp M (1989) Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. Eur J Pediatr 149(1):31–39

Article  PubMed  Google Scholar 

Hulkova H, Cervenkova M, Ledvinova J, Tochackova M, Hrebicek M, Poupetova H, Befekadu A, Berna L, Paton BC, Harzer K (2001) A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. Hum Mol Genet 10(9):927–940

Article  PubMed  Google Scholar 

Fabian P, Amintas S, Levade T, Medin JA (2018) Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis 13(1):121

Article  Google Scholar 

Bao XH, Tian JM, Ji TY, Chang XZ (2017) A case report of childhood Farber’s disease and literature review. Zhonghua Er Ke Za Zhi 55(1):54–58

PubMed  Google Scholar 

Schuchman EH, Mitchell J, Solyom A (2017) Morbidity and mortality associated with Farber disease and prospects for therapy. Expert Opin Orphan Drugs 5(9):717–726

Article  Google Scholar 

Lee BH, Mongiovi P, Levade T, Marston B, Mountain J, Ciafaloni E (2020) Spinal muscular atrophy and Farber disease due to ASAH1 variants: a case report. Am J Med Genet A 182(10):2369–2371

Article  PubMed  Google Scholar 

Bashyam MD, Chaudhary AK, Kiran M, Reddy V, Nagarajaram HA, Dalal A, Bashyam L, Suri D, Gupta A, Gupta N, Kabra M, Puri RD, RamaDevi R, Kapoor S, Danda S (2014) Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. Clin Genet 86(6):530–538

Article  PubMed  Google Scholar 

Muranjan M, Agarwal S, Lahiri K, Bashyam M (2012) Novel biochemical abnormalities and genotype in Farber disease. Indian Pediatr 49(4):320–322

PubMed  Google Scholar 

Al JF (2012) A novel mutation in an atypical presentation of the rare infantile Farber disease. Brain Dev 34(6):533–535

Article  Google Scholar 

Kucukardali Y, Solmazgul E, Kunter E, Oncul O, Yildirim S, Kaplan M (2007) Kikuchi-Fujimoto disease: analysis of 244 cases. Clin Rheumatol 26(1):50–54. https://doi.org/10.1007/s10067-006-0230-5

Article  PubMed  Google Scholar 

Schmoeckel C (1980) Subtle clues to diagnosis of skin diseases by electron microscopy: “Farber bodies” in disseminated lipogranulomatosis (Farber’s disease). Am J Dermatopathol 2(2):153–154

Article  PubMed  Google Scholar 

Kostik MM, Chikova IA, Avramenko VV, Vasyakina LI, Le Trionnaire E, Chasnyk VG, Levade T (2013) Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis. J Inherit Metab Dis 36(6):1079–1080

Article  PubMed  Google Scholar 

Moghadam SH, Tavasoli AR, Modaresi M, Ziaee V (2019) Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis. J Musculoskelet Neuronal Interact 19(4):521–525

PubMed  PubMed Central  Google Scholar 

Solyom A, Mitchell J, Beck M, Hügle B, Schuchman EH (2017) Farber disease: design of the first observational and cross-sectional cohort study capturing retrospective and prospective data on the natural history and phenotypic spectrum of patients, including novel methodologies for assessment of disease-specific symptoms. Mol Genet Metab 120(1):S125

Article  Google Scholar 

留言 (0)

沒有登入
gif