Leukodystrophy

metachromatic leukodystrophy enzyme defect-arylsulfatase A lipid accumulating- cerebroside sulfate salient features-mental retardation, progressive paralysis, dementia in adult form, nerve stain yellowish brown with cresyl violet

Rare Disease Pelizaeus-Merzbacher ******************************************* Pelizaeus-Merzbacher Disease is a rare inherited condition affecting the brain and spinal cord. The condition delays coordination, motor abilities, and intel...See More

For which of the following diseases the enzyme replacement therapy is available? A Albinism B Niemann-pick disease C Metachromatic leukodystrophy D Gaucher disease

1yr10m old baby, perfectly healthy till 4 days ago when she developed fever; Almost continuous ranging from 100- 101°F, ...See More

1. Causes of Apple core sign femur synovial chondromatosis (Most common) pigmented villonodular synovitis amyloidosis rheumatoid arthritis 2. Anterior tibial translation/translocation > 7mm is highly suggestive of Anterior cruciate ligame...See More

a)Asteroid body - sporotrichosis b)Babes -Ernst bodies -metachromatic granules. c)Bamboo bodies - Asbestosis d) Bollinger bodies -Fowlpox e)Chromatid bodies - E.histolytica ...See More

11month old presented with delayed milestones. Developmental age of a 3 month old. On examination right eye micropthalmos and ptosis. Left eye pigmentary retinopathy. Tone increased. Mri brain shows hypomyelinating leukodystrophy. Right eye...See More

A 3-month-old female infant presented with generalized convulsions. Seizures were accompanied by cyanosis & extreme irri...See More