Thursday, 23 June 2016


Farbers- mimicks rheumatoid arthritis

Fabry's- angiokeratomas, debilitating pain, Maltese crosses, Fabry Crises/cries

Gm1 gangliosidosis- Angiokeratomas, HSM, typical facial features like frontal bossing, long philtrum, wide set ears,cherry red spot, blind n deaf by 1yr and death by 3-4 yrs

Taysach's disease- macular pallor, cherry red spot, Macrocephaly, seizures, death by 4-5 yrs

Sandhoff- similar to taysachs except with having HSM, cardiac and bone involvement in sandhoff.

Gaucher's- pancytopenia, bleeding, Bone crises (severe swelling n pain), No cherry red spot n No MR.pathological hallmark is Gaucher cell in BM, Xray femur shows erlen meyer flask deformity..

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