Case details A boy was born normal but started flinching at loud noises (enhanced startle response) at the age of 6 months. The child initially could sit up but then regressed so that he could not roll over or recognize his parents. Ophthalmological examination revealed a central red area of the retina surrounded by white […]
Tay-Sachs disease- a case based discussion Read More »
Case Details A 25 –year-old woman presents, with a history that includes- a) Hepatosplenomegaly with eventual removal of the spleen b) Bone and joint pains with several fractures of the femur. c) A liver biopsy that shows wrinkled-looking cells with an accumulation of Glucosyl ceramide, What would be the likely diagnosis for this patient? Case
Case study- Gaucher disease Read More »
Case details A 6-year-old boy is seen by a pediatrician because his parents are concerned about his aggressive behavior, hyperactivity, and a loss of language skills. He also has recently become increasingly unsteady on his feet and has experienced a recent seizure. Slight facial feature coarsening is noted. In which of the following processes is this child
Sanfilippo syndrome Read More »
Case details Infants have decreased ability to conjugate Glucuronic acid on to drugs such as Chloramphenicol. Administration of this antibiotic during the neonatal period can result in elevated plasma levels of the drug and a fetal shock-like syndrome referred to as Gray Baby syndrome. (Image courtesy-Gray Baby Syndrome: What You Need to Know) Glucuronic acid
Gray Baby Syndrome and the Role of Glucuronic acid Read More »
“Explore the role of heparin in managing deep vein thrombosis (DVT). Learn about its chemical nature, anticoagulant mechanism, clinical applications, and potential side effects like thrombocytopenia and osteoporosis.”
Heparin in DVT Management: Mechanism, Uses, and Adverse Effects Read More »
