Leukodystrophy

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

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

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

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