An 8-year-old girl is brought to the emergency department by her mother for evaluation of blurry vision. The patient reports that she woke up this morning with a sudden onset of blurry vision. Her mother states, "She has worn thick glasses since age 2, but this morning she said that everything was blurry in her left eye, even with her glasses on." There is no associated erythema or discharge. The patient does not recall any trauma. The girl has no chronic medical conditions and has had no surgeries. She is an honor roll student in the 3rd grade. The patient lives with her mother, and her father left when she was an infant. The mother's medical history is unremarkable but she says, "I think her father had a similar problem when he was younger and had a weak heart." The patient is at the 50th and 95th percentiles for weight and height, respectively. She is alert and in no distress. The right pupil is 4 mm and briskly reactive; the left pupil is 1 mm. Bilateral globes appear intact with no conjunctival injection. Extraocular eye movements are intact bilaterally and visual fields are full to confrontation bilaterally. A dilated direct ophthalmoscopic examination followed by a slit-lamp examination of the left eye reveals the following: Which of the following conditions is this patient at greatest risk of developing?

Question

An 8-year-old girl is brought to the emergency department by her mother for evaluation of blurry vision.  The patient reports that she woke up this morning with a sudden onset of blurry vision.  Her mother states, "She has worn thick glasses since age 2, but this morning she said that everything was blurry in her left eye, even with her glasses on."  There is no associated erythema or discharge.  The patient does not recall any trauma.  The girl has no chronic medical conditions and has had no surgeries.  She is an honor roll student in the 3rd grade.  The patient lives with her mother, and her father left when she was an infant.  The mother's medical history is unremarkable but she says, "I think her father had a similar problem when he was younger and had a weak heart."  The patient is at the 50th and >95th percentiles for weight and height, respectively.  She is alert and in no distress.  The right pupil is 4 mm and briskly reactive; the left pupil is 1 mm.  Bilateral globes appear intact with no conjunctival injection.  Extraocular eye movements are intact bilaterally and visual fields are full to confrontation bilaterally.  A dilated direct ophthalmoscopic examination followed by a slit-lamp examination of the left eye reveals the following:  Which of the following conditions is this patient at greatest risk of developing?

Quizplus · Accepted Answer

Explanation: 11ec2b69_be37_2c19_8f63_9d8886e63684_MD0005_00 Marfan syndrome (MFS) is an autosomal dominant condition due to a defect in the connective tissue glycoprotein fibrillin-1. Fibrillin-1 is found throughout the musculoskeletal and cardiovascular systems (eg, aorta, heart valves) as well as in the zonular fibers that suspend the ocular lens in place. Lens subluxation or dislocation (ectopia lentis) occurs due to failure of these fibers to support the lens. Ectopia lentis, particularly in the superotemporal direction, is a hallmark feature of MFS. This finding on slit-lamp examination in a child with minimal to no preceding trauma is concerning for MFS as an underlying etiology. The most concerning comorbidity of MFS is aortic root disease. Aortic root dilation occurs in the majority of patients with MFS and can lead to life-threatening aortic dissection; therefore, echocardiography is performed at the time of diagnosis and annually to monitor progression. A beta blocker is typically prescribed to decrease myocardial contractility and to reduce the stress on the aortic wall. In addition, if the aortic root diameter is significantly or rapidly enlarging, surgical replacement may be considered to reduce the risk of aortic dissection or rupture. (Choice B) Berry aneurysms occur in patients with Ehlers-Danlos syndrome (EDS) due to increased fragility of the cerebral artery walls. EDS causes joint hypermobility and skin hyperextensibility, features not present in this patient. (Choice C) Gigantism is typically due to a growth hormone-secreting pituitary adenoma. Growth hormone hypersecretion causes tall stature and often results in glucose resistance due to impaired insulin signaling. Typical findings include coarse facial features and frontal bossing, not seen in this patient. In addition, bitemporal hemianopsia may occur from the pituitary adenoma compressing the optic chiasm, not ectopia lentis. bitemporal hemianopsia (Choice D) Retinoblastoma is a common childhood eye cancer that presents with leukocoria and a white, fluffy intraocular mass on ophthalmologic examination. It is not a complication of ectopic lens or MFS. leukocoria (Choice E) Homocystinuria is an autosomal recessive disorder with features similar to MFS (eg, Marfanoid habitus, myopia, ectopia lentis). However, venous thromboembolism and intellectual disability are unique findings absent in this child. Also, the lens classically displaces downward in homocystinuria versus upward in MFS. Educational objective: Patients with a nontraumatic ectopia lentis should be evaluated for Marfan syndrome, an autosomal dominant condition with an increased risk for aortic root disease (eg, dilation, dissection). References: Ectopia lentis as the presenting and primary feature in Marfan syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/21932315) Health supervision for children with Marfan syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/24081994)

An 8-Year-Old Girl Is Brought to the Emergency Department by Her