A 29-year-old woman has progressive gait disorder and dysmetria. Laboratory studies include a hematocrit of 55% and a routine urinalysis, which reveals excess protein and some RBCs in the urine. Urine culture is negative. The initial physical examination reveals an enlarged liver and spleen. Additional physical findings will most likely include which of the following?
a. A Kayser-Fleischer ring around the cornea
b. Hypopigmented (ash-leaf) spots on the trunk
c. Telangiectasias in the fundi on retinal examination
d. Bilateral hearing loss
e. Generalized hyporeflexia
the answer is below…
The United States Medical Licensing Examination, or USMLE for short, is a three-part licensing examination that is required in order to receive a license to practice medicine within the United States.
The USMLE assesses a physician’s ability to apply knowledge, concepts, and principles, and to determine fundamental patient-centered skills that are important in health and disease and that constitute the basis of safe and effective patient care.Examination committees composed of medical educators and clinicians from across the United States and its territories prepare the examination materials each year.
This exam is designed by the Federation of State Medical Boards and the National Board of Medical Examiners to determine whether or not an individual understands and can apply the knowledge necessary to practice medicine safely and intelligently.
The USMLE is actually comprised of three different exams that are referred to as steps, which examine the individual’s knowledge of specific topics related to the field of medicine such as basic science, medical knowledge, medical skills, clinical science, and the application of all of these skills and areas of knowledge in the medical field.
All three steps of the USMLE include a series of computerized multiple-choice questions, but the format of the exam and the information covered in each multiple-choice section is different for each step of the USMLE. The USMLE Step II also has a clinical skills portion that examines an individual’s ability to work with real patients and the USMLE Step III has a computerized patient simulation portion in addition to the multiple-choice section of the exam. In order for an individual to receive a license to practice medicine, the individual must pass all three steps of the USMLE.
The correct answer is c; Telangiectasias in the fundi on retinal examination.
The association of erythrocytosis with cerebellar signs, microscopic hematuria, and hepatosplenomegaly suggests von Hippel-Lindau syndrome. This hereditary disorder is characterized by polycystic liver disease, polycystic kidney disease, retinal angiomas (telangiectasia), and cerebellar tumors. This is an autosomal dominant inherited disorder with variable penetrance. Men are more commonly affected than women. Although neoplastic cysts may develop in the cerebellum in persons with von Hippel-Lindau syndrome, these usually do not become sufficiently large to cause an obstructive hydrocephalus. Other abnormalities that occur with this syndrome include adenomas in many organs. Hemangiomas may be evident in the bones, adrenals, and ovaries.
Hemangioblastomas may develop in the spinal cord or brainstem, as well as in the cerebellum. This syndrome is not associated with acoustic schwannomas that could cause bilateral hearing loss, and it is not accompanied by peripheral neuropathy, which could cause diffuse hyporeflexia.