13y/female ,abnormal since birth having raised S.Homocystiene Level with visual disturbance came with c/o left handed pain and swelling radiating from ring finger till axilla in a patchy manner as indicated....c/o severe pain and o/E signs of inflammation is there...


Having known that patient has Homocysteinemia and Homocysteinuria. Current manifestation should alert the physician to think about thromboemolic Episodes..thrombocysosis..is another Feature of the disease...I am not Genetist., How I remember about this disease is Knowing Marfan Syndrome.These two Are like Twins.phenotypically(physical signs)almost similar.Marfan is connective tissue disease...AD tranmitted...Homocysteinuria is Metabollic disorder of Methionine..AR onherited. Thrombocytosis and thromboembolic Phenomenon chharecteristically differentiate Homocysteinuria from Marfan symptomatically.Both can present With Lense dislocation...but they are opposite.One up and outwards(Marfan) Other down..and ? Putwards(check it out for sure). With current senerio..Knowing that pt has High levels hpmocysteine since birth

Thnx sir. Very helpful information.


Lymphangitis Tenosynovitis

You are welcome...would you please.. What was the diagnosis and how was itmanaged.

Allergic dermatitis