Vascular and ocular complications in a child with homocystinuria
Leuenberger, S.; Faulborn, J.; Sturrock, G.; Gloor, B.; Rehorek, R.; Baumgartner, R.
Schweizerische Medizinische Wochenschrift 114(22): 793-798
1984
ISSN/ISBN: 0036-7672 PMID: 6610936 Document Number: 238428
Homocystinuria, only partially responsive to pyridoxine, was first diagnosed at the age of 14 years in a boy with high myopia, spherophakia and subluxated lenses, when surgical removal of a dislocated lens became necessary. 2 years previously a fracture of the left tibia, treated conservatively, had been followed by ischemia of the leg necessitating amputation. Postoperatively, deep vein thrombosis had developed in the right leg. Plasma homocysteine was lowered to undetectable levels by treatment with betaine in addition to pyridoxine, folic acid and reduction of protein intake. During the two years on treatment no further thromboembolic complications have occurred.