C. Klinfelter syndrome is the only option in this list without evidence of prominent epicanthal folds. Be sure to know other conditions besides Down syndrome and Fetal Alcohol syndrome. Blepharophimosis is an eyelid condition that demonstrates REVERSE epicanthal folds.

B. Contact dermatitis is an example of a Type IV hypersensitivity reaction, also referred to as delayed or cell-mediated hypersensitivity. T-lymphocytes are the primary immune response in this type of reaction. Type I hypersensitivity uses IgE. Type II hypersensitivity is the more common IgM/IgG response. Type III hypersensitivity utilizes antigen/antibody complexes.

A,C,D: The Congenital Syphilis triad consists of Hutchinson’s teeth (small and widely spaced), deafness, and interstitial keratitis. The remaining options are associated with HSV.

A. SLE is an example of a Type III hypersensitivity reaction – involves ag/ab complexes. SLE most often presents in young women in their teens and twenties. These patients may experience a malar rash, joint pain, and other consequences of inflammation in the body. Blood work will reveal a positive ANA.

D. This patient has Ankylosing Spondylitis – an inflammatory condition that causes sacroiliitis in young males that improves with exercise. AS is the most common cause of acute, unilateral anterior nongranulomatous uveitis. You can recall the UCRAP conditions as the most common causes of acute, unilateral anterior nongranulomatous uveitis and for their association with HLA-B27. The last option refers to sarcoidosis – causes chronic, bilateral granulomatous anterior uveitis.

D. Rheumatoid arthritis is not expected in Primary Sjogren’s syndrome. Primary Sjogren’s syndrome is defined as dry eye, dry mouth, and presence of autoantibodies. To diagnosis Secondary Sjogren’s, a patient must present with all the previous findings AND an autoimmune disease such as RA, SLE, and other connective tissues diseases.

A. An ESR of 30 mm/hr is considered normal in a female of this age. This patient suffers from Giant Cell Arteritis. Abnormal GCA results include: elevated ESR, CRP, and platelet count as well as inflammation of the temporal artery noted on biopsy. Recall that elevated ESR in males is greater than their age divided by 2 (> age/2) and in females it is their age plus ten (> (age+10)/2). Elevated CRP is considered greater than 2.45 mg/dL. Elevated platelet count is any value > 400,000.

B. Kaposi’s sarcoma is a malignant lesion that develops secondary to an active herpes infection in an immunocompromised individual. The remaining options are all opportunistic infections that develop as CD4 cell count declines.

B. Pseudodendritic keratitis is a complication of Herpes Zoster Virus. One would expect to find dendritic keratitis in HSV. Dendrites appear as branching areas of staining on the cornea with terminal end bulbs. Use of Rose Bengal or Lissamine Green staining is important in this diagnosis. Recall that HSV can lead to development of follicles.

D. Behcet’s disease is an inflammatory disease that occurs more commonly in young males of Middle Eastern or Asian descent. It is defined as recurrent mouth, eye and/or genital sores. One must have two of these to receive a formal diagnosis. Behcet’s is associated with acute recurrent hypopyon as well as all forms of uveitis.

A,B,D: The classic triad of Neurofibromatosis 1 includes cafe au lait spots, neurofibromas, and iris Lisch nodules. It is important to examine a patient for these signs in the presence of at least one of these findings. Other findings may include optic nerve gliomas and congenital glaucoma.

C.Sickle cell anemia results from a single pair amino acid substitution of glutamic acid for valine. This is the most common form of sickle cell anemia.

C. Fabry’s disease is associated with development of verticillata, also known as whorl or vortex keratopathy. Several medications (recall CHAI-T) as well as the condition sphingolipidoses can cause verticillata as well.

C. The above most accurately describes Leber’s hereditary optic neuropathy – transmitted through maternal inheritance. A single AA base substitution can describe many conditions including, but not limited to, Sickle Cell anemia. Abnormal collagen synthesis may lead to changes in vision due to corneal malformation and weakness of lamina cribrosa. Neither Trisomy 21 (Down Syndrome) nor Turner Syndrome (absent X) are known to cause these findings.

E. One would not expect bronchodilation but rather bronchospasm. The list of signs of anaphylactic shock include, but not limited to: hypotension, tachycardia, sneezing, itching, wheezing, bronchospasm, nausea, vomiting, diarrhea, urticaria, pruritus, headache, syncope, and/or seizure.

C. An aneurysm is the most likely cause of this CN3 palsy. The fixed, dilated pupil is indicative of a compressive CN 3 palsy. As the pupillary fibers course along the outside of cranial nerve 3, any growth, lesion, or pressure on the outside of the nerve will prevent the pupil from constricting. Vascular diseases affect the nerve from the inside and spare the pupillary fibers. HSV is more often correlated with Bell’s Palsy.

A. Age is the most highly associated risk factor for hypertension. The remaining options are also risk factors.

B. A tumor that causes compression of both the posterior and middle cerebral arteries is most likely to cause a macula-only homonymous hemianopsia. The macular center of the occipital lobe is superficial and fed by both arteries. Vascular events often only damage one of the sources, thus leading to macular sparing homonymous hemianopsia.

D. Cluster headaches are characterized by periods of attacks that occur for several weeks before going into remission. These headaches most commonly affect males between the ages of 30 and 50 years. These headaches can be accompanied with red eyes, nasal congestion, and transient or permanent Horner’s syndrome.

A. The most common primary malignant brain tumor is the glioblastoma multiforme. Meningiomas are the most common benign brain tumor. Schwannoma are rare tumorsof the schwann cells (the myelinating cell of the peripheral nervous system). Pituitary adenomas are infamous for causing bitemporal hemianopia or junctional scotomas.Acoustic neuromas affect CN8 with some ocular manifestations.

B. Optic neuritis is the most common presenting symptom of MS. Other findings include APD, INO, and diplopia. Uthoff’s phenomenon and LHermitte’s signs can also be seen in patients with MS. To be diagnosed with MS, a patient must have either two lesions separated by space or time.

C. Myasthenia gravis is caused by antibodies that target acetylcholine receptors. This condition leads to reduced muscle innervation over the course of a day leading to symptoms worse at night. Ocular findings include ptosis and diplopia. Recall the ice pack test and tensilon (Edrophonium) test.

B. Dementia is not a classic sign of Parkinson’s. To recall the signs, think of the mnemonic TRAP – Tremor at rest, Rigidity, Akinesia, and Postural instability.

B. Between the CCB and the SCG. A lesion of the sympathetic pathway leads to development of Horner’s syndrome. These lesions can be defined by one of three regions: preganglionic central, preganglionic, and postganglionic. See answer choices for description.

C. A patient diagnosed with T1DM should have a dilated fundus exam within 5 years of diagnosis. Patients diagnosed with T2DM are recommended to have a DFE upon diagnosis.

A. Heat intolerance is not associated with Hypothyroidism (low amounts of sympathetic innervation). Rather, the classic symptoms include COLD intolerance, weight gain, decreased appetite, weakness and lethargy.

D. Hyperthyroidism is characterized by elevated levels of T3/T4 hormones and low levels of TSH. This condition is caused by constant thyroid stimulation leading to increased production of T3/T4. Elevated levels of T3/T4 inhibits the production of TSH by the thyroid gland leading to decreased levels of TSH.

B. Cushing’s Disease is characterized by excess corticosteroids in the body. Patient may present with a moon face and buffalo hump. Addison’s disease is due to a deficiency of steroids in the body. This leads to weakness, fatigue, and weight loss. Pheochromocytoma is caused by excessive amounts of norepinephrine and epinephrine. These hormones are elevated due to tumor secretion. Hyperparathyroidism is associated with elevated calcium levels.

A,E: Recall that “vowels follow the bowels”, Hep A and E are transmitted via fecal oral route. Hep B and C are spread via blood, IV drugs, and sex. Hep D is a superinfection with Hep B.

A. Osteogenesis imperfecta is NOT associated with presenile cataracts. Recall “MAD Mr. Wilson develops early Cataracts”. The “C” stands for calcium issues.

B. Wernicke-Korsakoff Syndrome is caused by a deficiency of Vitamin B1 (thiamine). This condition is seen most commonly in alcoholics.

C. Folic acid supplementation can significantly reduce the risk of spina bifida in a newborn. Spina bifida is a defective closure of the spinal cord that leads to lower body dysfunction and decreased mental function.

D. LON is NOT considered a perinatal infection as it is transmitted through maternal mitochondrial DNA. The acronym for this group of infections is TORCH: Toxoplasmosis, Other (Hep B, syphilis, varicella, HIV), Rubella, Cytomegalovirus, and Herpes Simplex.