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
Self 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.
GRH Madurai
Mbbs
Madurai Medical College
MBBS
Krishna Children'S Hospital
Consultant Pediatrician
Gandhi Hospital
DNB PEDIATRICS
Self Employed
Primary General Ob Gyn
ENS
Fellowship in Ob. Gynaecology
PGIMER, Chandigarh
MD
Trending Diseases
Trending Cases
Which of the drugs do you recommend for symptomatic management of fever and pain in children?
Doc Insights11 Likes27 AnswersPlease share your overall clinical experience with the Ibuprofen + Paracetamol combination in treating Paediatric Fever and pain?
Doc Insights7 Likes15 Answers- Login to View the image
A 57 yrs old male patient c/o sudden vision loss/left side weakness/agitated/fever bodyache *Chief Complaints* Sudden vision loss Left side weakness Unable to walk Agitated urge to pee/poop but nothing comes out when he go Bodyache *History* CVA with left hemisphere 3 yrs back K/c/o HTN/DM *Vitals* BP 150/80 Pulse 68 Spo2 98 *Physical Examination* B/L Pupils dilated Left side weakness Chest -B/L clear P/A- soft no any tenderness or distension CNS -Alert and aware Genitals -Normal *Investigations* Attached *Diagnosis* CVA with HTN/DM ?TIA/Retinal detachment *Management* Medically conservative Kindly suggest
Dr. Manoj Kumar0 Like3 Answers Artificial intelligence (AI) in medicine & dentistry have been on the rise in recent years. It has the potential to enhance efficiency, accuracy, and patient outcomes by analyzing data, detecting patterns, and providing outcome to the practitioners. What is your opinion about AI in dentistry?
Dental-Insights2 Likes3 Answers- Login to View the image
Penile fracture or rupture is a rare event but requires urgent diagnosis and intervention. It is a rupture of the penile albuginea of the corpora cavernosa or corpus spongiosum due to trauma to the erect penis, most commonly during sexual intercourse. Dr. Vivek Jha is sharing a clinical case of “Penile Fracture” managed with surgical expertise by him. Share your views on the case & learn new things.
Expert Insights2 Likes2 Answers