A 6-year-old light skinned caucasian female with blue eyes presents to the ED with right sided weakness and slurred speech. She has normal birth and medical history, and is tall for her age with long limbs and extremely long fingers when compared to the palm of her hand. Eye exam also reveals inferiorly dislocated lens. What is the most likely diagnosis?
a. Marfan Syndrome
b. Def. cYSTATHIONINE SYNTHASE
peds 4
treatment of pertusis**********
C.. Homocystinuria / CBS deficiency
thanks mdinmd
peds 3. ans.
Deficiency of Cystathionine Synthase
This is an autosomal recessive disease that causes homocystineuria. Think of this diagnosis whenever you get a history of hypercoagulability, mental retardation, Marfanoid features, with downward dislocation of the lens. These patients are normal at birth but then start to have developmental delays.
Remember that Marfan's syndrome presents with superior dislocation of the lens (upward=they look up to Mars) and that they do not have any thromboembolic events.
Confirm your diagnosis by finding increased serum homocystine and methionine levels, and treat with high dose vitamin B6 (Pyridoxine), restrict methionine and supplement cysteine if there is no response to B6 therapy.
mdinmd when is your exam?