GAUCHER DISEASE
Abstract
Gaucher disease is a lysosomal storage disorder. A 4 year old male child presented with growth retardation and unexplained organomegaly. Evaluation revealed gaucher disease. Child planned for enzyme replacement therapy and now is on followup. This case has been presented for its rarity.
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Gaucher disease: pediatricconcerns.Elstein D1, Abrahamov A, Dweck A, Hadas-Halpern I, Zimran A.Paediatr Drugs. 2002;4(7):417-26.
Bilateral Femoral Osteolytic Lesions in a Patient with Type 3 Gaucher Disease. Teefe E1, Kim J1, Lopez G1, Sidransky E 1Mol Genet Metab Rep. 2015 Dec 1;5:107-109.
A new variant neuropathic type of Gaucher disease Koji Inui, MD, Keiko Yanagihara, MD, KazumasaOtani, MD, Yasuhiro Suzuki, MD, MotohiroAkagi, MD, Masahiro Nakayama, MD, Hiroyuki Ida, MD, Shintaro Okada, MD January 2001Volume 138, Issue 1, Pages 137–139
Profile of eliglustat tartrate in the management of Gaucher disease. Sechi A1, Dardis A1, Bembi B1.TherClin Risk Manag2016 Jan 11;12:53-8
Bone-Marrow Transplantation in Severe Gaucher Disease. Joel M. Rappeport, M.D., and Edward I. Ginns, M.D., Ph.D. N Engl J Med 1984; 311:84-88July 12, 1984
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