Delayed diagnosis of homocystinuria presenting as bilateral congenital lens subluxation

Bilateral lens subluxation associated with atopic

PU R P O S E. Ectopia lentis remains a therapeutic challenge for ophthalmologists. It classically p resents with a preceding history of blunt or penetrating ocular trauma, or it may be associated with other ocular disorders such as congenital glaucoma and aniridia, or concomitant here d i t a ry systemic diseases such as Marfan syndrome and homocystinuria. ME T H O D S. Case re p o r t . RE S U...

Congenital leukaemia presenting as bilateral renal masses.

Congenital leukemia is a rare and poorly defined disease. Many authors define it as leukemia occurring from birth to four week. Others recognize it as being synonymous with leukemia of the neonatal period and infancy. It is commonly acute myeloblastic but may be acute lymphoblastic or juvenile myeloid in type. It is associated with several trisomies, especially trisomy 21. Trisomy 13, trisomy 1...

Supero-nasal Subluxation of Lens in Homocystinuria – A Rare Case Report

Lens fringe in homocystinuria.

The lens from a patient with homocystinuria was examined by scanning and transmission electron microscopy. A fringe of zonular remnants was found attached to the anterior lens capsule, and was observed to be composed of masses of short filaments in disarray, together with occasional bundles of normal-appearing zonular filaments. Although a pericapsular membrane (zonular lamella) was not observe...

Delayed diagnosis of neuroborreliosis presenting as bell palsy and meningitis.

Lyme disease is most prevalent in the northeast and upper Midwest regions of the United States. While early symptoms may be mild (eg, rash, flu-like symptoms, joint pain), late or persistent infection can cause chronic neurologic impairments. Because of this range of symptoms, physicians can have difficulty diagnosing Lyme disease, especially in the absence of erythema chronicum migrans. We rep...