Lysosomal storage diseases Presentations Flashcards
Which one’s have “cherry-red” spot on macula
Niemann-Pick and Tay-Sachs [The ones with hyphenated names like Cherry-Red]
Niemann-Pick and Tay-Sachs similarities and dissimilarities
NP and TS both have progressive neurodegeneration, cherry red spots.
NP has hepatosplenomegaly
TS has developmental delay [Think TS, think MR]
Niemann-Pick histology
Foam cells (lipid laden macrophages, so much sphingomyelin (standard phospholipid)
Tay-Sachs histology
Lysosomes with onion skin
Gaucher disease features
Hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises [Think about my patient’s fractures, so the bone and bone marrow is fucked, and she was chubby so she has hepatosplenomegaly]
Gaucher disease histology
Gaucher cells: lipid laden macrophages with crumpled tissue paper. [The most common so have their own cells]
Tx for Gaucher’s
Glucocerebrosidase
Fabry disease findings
Peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease. [ceramic skin lesions]
Krabbe disease presentation
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells [like a crab shell, can’t feel anything, globoid cells like how crabs are round, can’t see well b/c they are crabs]
Metachromatic leukodystrophy presentation
Central and peripheral demyelination with ataxia, dementia [leukodystrophy means white matter decay, so think of demyelination]
Hurler syndrome
Developmental delay, garoylism [hurl off the gargoyl], airway obstruction, corneal clouding, hepatosplenomegaly
Hunter syndrome
Mild hurler + aggressive behavior [Hunter is vicious], no corneal clouding [Hunters see clearly]
Inheritance of Lysosomal Storage diseases
All are aut. rec. except for Hunter [Aim for the X] and Fabry which are XR
