Q1:
A
2-year-old boy you have followed up since birth presents to your office for a
health supervision visit. He was born at
term and has had normal growth and development. The mother recently noticed
that he looks “cross-eyed” at times. There is no family history of eye
abnormalities. On physical examination, his left eye is deviated nasally with a
white pupillary reflex . There is no proptosis, conjunctival injection, or pain
with eye movements. The remainder of results for the physical examination are normal.
Results of the complete blood cell count are within normal limits.
Of
the following, the MOST likely diagnosis for this patient is
A. bilateral retinoblastoma
B. congenital cataract
C. leukemia with chloroma
D.
E. unilateral retinoblastoma
Answer:
E
Answer:
E
In
this vignette, the age of the child, the lack of findings in right eye, and the
relatively higher frequency of unilateral disease over bilateral disease make
unilateral retinoblastoma the most likely diagnosis in this patient. Leukemia
with chloroma, or intraocular leukemic infiltration, is a less likely diagnosis
given the normal blood cell count. Neuroblastoma can present in this age group
but is not associated with leukocoria.
Ocular findings typically seen in neuroblastoma include Horner syndrome
(miosis, ptosis, enophthalmos, and anhydrosis), periorbital hemorrhage,
proptosis, papilledema, retinal hemorrhage, strabismus, and opsoclonus.
Congenital cataracts are also a common cause of leukocoria but are usually
apparent at birth or early infancy (Item C12). Cataracts can be associated with
congenital infections or various systemic disorders (eg, diabetes mellitus,
galactosemia, Turner syndrome, Down syndrome, peroxisomal disorders).
One
of the most common causes of leukocoria (white pupillary reflex) in children is
retinoblastoma (47% of cases); therefore, all children with a new finding of
leukocoria should be referred immediately to an ophthalmologist who is
experienced in examining children. Other causes include persistent fetal
vasculature, retinopathy of prematurity, cataracts, optic disc abnormalities,
uveitis, or vitreous hemorrhage.
ليست هناك تعليقات:
إرسال تعليق