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Old 01-29-2012
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Question Capillary hemangioma and losing developmental milestones

A 4-year-old boy is brought to your office because he has recently begun losing developmental milestones. The parents are concerned because the child does not seem to socialize well with other kids. Last night, the boy had a seizure that lasted 2 minutes and resulted in the loss of urinary continence. As you examine the child you notice that he has a prominent capillary hemangioma on the right side of his forehead. You also notice a prominent and markedly enlarged right eye.

In addition to the markedly enlarged eye, what is the most likely ophthalmologic diagnosis?
A. Closed-angle glaucoma
B. Congenital cataracts
C. Start of a retinal detachment
D. Congenital glaucoma
E. None of the above
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Old 01-29-2012
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Ans A .. closed angle glaucoma .....
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Old 01-29-2012
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This is obviously a neuro-cutaneous syndrome. Sounds like Sturge Weber, which may present with a glaucoma as well. I'd agree- closed angle glaucoma
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Old 01-30-2012
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Closed angle glaucoma
sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma. It is characterized by proliferation of arteries of the brain, resulting in multiple angiomas that occur on the same side as the physical signs described above. As a consequence, arteriovenous malformations often form. Normally, only one side of the head is affected.
Sturge-Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary etiology).
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The above post was thanked by:
magsMD (06-30-2013), nishkid64 (04-08-2013), steps_8186 (01-30-2012)



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Nervous-System-, Pathology-, Step-1-Questions, Syndromes-Acronyms

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