Gaucher disease
Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly.There are three types:Type 1, the most common form, causes liver and spleen enlargement, bone pain and fractures (broken bones), and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age.Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence.Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.NIH: National Institute of Neurological Disorders and Stroke
D is the correct answer
13 Views
, 1 Like
, 3 Answers
85 Views
, 1 Answer
Recent Cases of Gaucher disease
Browse recently discussed Gaucher disease cases by specialistsTop Cases of Gaucher disease
Selected by editors, top cases are known for unique problem or best solutionTop Gaucher disease Doctors on Curofy
Top doctors who continously share their opinions on Gaucher diseaseSelf Emploid(private Clinic)
Morbi
Shri M P Shah Medical College Jamnagar
M B B S
The Health City Hospital
Intensivist
Maharashtra University of Health Sciences Nashik
bhms
Super Specialist in Reproductive Endocrinology
Dhanvantri Children Hospital
Consultant
Mrmc
MBBS,,,DCH
Jagadguru Jayadeva Murugarajendra Medical College
Retired Professor and Head Pediatrics
Jagadguru Jayadeva Murugarajendra Medical College
md,frcpch(uk),ficpcc(London),masp(usa),phd, fams ,fimsa.
Trending Diseases
Trending Cases
Astra Zeneca vaccine against Covid-19 has the potential to cause Thrombosis with Thrombocytopenia Syndrome (TTS), a rare side effect associated with blood clotting. TTS causes blood clots & leads to low blood platelet count. Experts say, the adverse effects related to vaccine usually occur within a few weeks (1-6 weeks) after the administration. Hence, people in India who took the vaccine 2 years ago need not worry. What do you think about it?
Doc Insights8 Likes18 Answers- Login to View the image
60 year old female patient presented with difficulty in passing urine and swelling near urethral opening. USG KUB report normal. What will be the diagnosis in this case?
Dr. Vivek Jha4 Likes10 Answers - Login to View the image
M.62yrs. Pain & stiffness neck 1 year.
Dr. Syam Sundar Patro0 Like8 Answers - Login to View the image
This is a case of my brother - A 47-year-old male complains of pain in his right wrist while lifting anything with hand or twisting the wrist even a little bit. Pain occurs occasionally on rest. He also has pain in his both shoulders. Radiographic images of wrist are attached. Can you diagnose the cause? Let me know if you have any query.
Dr. Neelam Chauhan0 Like7 Answers - Login to View the image
Upper limb fractures & dislocations are those associated with the arms & shoulders. The clavicle & the wrist are the most common sites of fractures of the upper limb. Learn & update your basic radiological approach for “Bone Fractures - Upper Limb” & interpretation knowledge & patient care approach with this post.
Radiology Essential6 Likes7 Answers
21 Views
, 1 Like
, 14 Answers