All of the following groups are at high risk for eye pathology and will require ophthalmologic follow-up, except:
Correct Answer E:
Bacterial conjunctivitis, as long as the cornea is not affected, seldom leads to complications. General concerns include membrane formation and subsequent scarring of the punctum; corneal ulcer when the epithelium is not intact; and symblepharon from severe inflammation.
→ Family history of amblyopia is a risk factor for amblyopia.
→ Premature infants are at risk for retinopathy of prematurity.
→ Patients with cerebral palsy are at risk for strabismus.
→ Maternal intrauterine TORCH infections may result in cataracts or chorioretinitis.
You are called to evaluate a term newborn in the delivery room. The pregnancy and delivery were uneventful, but the baby has remained cyanotic despite routine delivery room care. A hyperoxia test is performed; the results of which are printed below:
Which statement is the correct interpretation of the test results above?
Correct Answer A:
The hyperoxia test is used as an early tool to evaluate the cyanotic neonate to determine if the etiology of the cyanosis is cardiac or non-cardiac in origin. A right radial artery (pre-ductal) blood gas is performed with the child inspiring room air and 100% oxygen. The change in PaO2 with the administration of oxygen issued as a guide to determine the etiology of the cyanosis. A PaO2 of less than 150 with the administration of 100% oxygen suggests a cardiac lesion. The cardiac lesions may be further classified based upon the absolute value of the PaO2. A PaO2 of less than 50 on 100% oxygen suggests a cardiac disorder, in which there is restricted pulmonary blood flow or a separate venous and arterial circulation, whereas a PaO2 between 50 and 150 on 100% oxygen suggests that there is no restriction of pulmonary blood flow in the presence of complete mixing of oxygenated and deoxygenated blood. In this case, the PaO2 on 100% oxygen was less than 50, suggesting restricting pulmonary blood flow or a separate circulation.
A 3-week-old Caucasian male is brought to your clinic by his parents for a red growth on his face. He was a healthy term baby weighing 3650 g. He was seen previously in your office at 3 days of age and had no skin findings at that time. There is a 1.5 cm x 2 cm bright red, raised lesion on the left temple. It is soft and nontender to palpation without blanching.
The parents are very concerned. You advise them:
Correct Answer C:
This presentation is consistent with a capillary hemangioma, which is not uncommon in infants. They often develop shortly after birth, increase in size over the first year of life, then involute over several years. They usually disappear by age 8-10 years. They should be treated only if they are excessively large or in vital areas (eyelid, airway, vaginal). Treatments include excision, steroids, laser treatment, or interferon.
A. Punch biopsy is unnecessary and could be dangerous due to heavy bleeding.
B. These lesions are benign but usually grow larger over the first year, then gradually involute.
D. Steroid injection is not necessary in most cases.
E. This is not an infectious lesion and antibiotics would be unhelpful.
A 3-year-old boy presents to your office for evaluation of speech delay. On examination, he is at the 90th percentile for height, 50th percentile for weight, and greater than the 98th percentile for head circumference. He has a long face with large protuberant ears, velvety skin, and is extremely hyperactive with no eye contact.
Which of the following is true?
This boy has fragile X syndrome, an X-linked disorder caused by expansion of a trinucleotide repeat region in the FMR-1 gene on chromosome Xq. Mothers of affected patients are obligate gene carriers with an intermediate size gene expansion and may have mild learning and behavior problems.
→ Both parents are gene carriers only in autosomal recessive conditions.
→ Boys with fragile X syndrome have normal genitalia and may develop macro-orchidism at puberty.
→ In an X-linked condition, there is a 50% recurrence risk for brothers to be affected, but a much lesser risk for sisters.
→ Fragile X chromosome analysis will reveal a “fragile site” on one X chromosome, not an extra chromosome DNA analysis of the CGG repeat region of the FMR-1 gene is now the preferred testing method.
Fragile X syndrome is associated with each of the following characteristics, except:
Fragile X syndrome is more common in males than females, affecting 1 in 2000 and 1 in 4000, respectively. It is the most common inherited form of mental retardation and second only to Down’s syndrome as a cause of mental impairment. As the name implies, the syndrome is the result of a fragile site on the long arm of the X chromosome attributed to the excess amplification of the trinucleotide CGG sequence. It is thought that the protein produced by this gene is responsible for guiding the connections between neurons involved in learning and memory. The symptoms of this pervasive developmental disorder include mental retardation ranging from learning disabilities to severe intellectual impairment, hyperactivity, unstable mood, and autistic-like behaviors. The diagnosis can now be made by a DNA probe to pinpoint the defective gene. Presently gene repair is not possible, so treatments include behavioral and pharmacologic management of the symptoms.
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