Medical Case Study: Lightheadedness and Fatigue in a 15-Year-Old Girl
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Questions and Answers

What is the most likely diagnosis for the 15-year-old girl with lightheadedness, headaches, and fatigue?

  • Orthostatic hypotension
  • Diabetes
  • Postural orthostatic tachycardia syndrome (POTS) (correct)
  • Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome

    • Which neurotransmitter is released by sympathetic preganglionic neurons?

  • Acetylcholine (correct)
  • Epinephrine
  • Glycine
  • Norepinephrine

    • What does the absence of a normal increase in blood pressure during phase 4 of the Valsalva maneuver suggest?

  • Orthostatic hypotension
  • Parkinson disease
  • Parasympathetic dysfunction (correct)
  • Sympathetic dysfunction

    • True or False: A patient with anhidrosis on thermoregulatory sweat testing and a normal result on quantitative sudomotor autonomic reflex testing has a preganglionic sudomotor abnormality.

    <p>True</p> Signup and view all the answers

    Which of the following is associated with autonomic neuropathy?

    <p>Constipation</p> Signup and view all the answers

    In a patient with suspected autonomic dysfunction, what symptom would indicate sympathetic dysfunction?

    <p>Urinary urgency</p> Signup and view all the answers

    Which test is most likely to confirm the diagnosis in the text?

    <p>Serum and urine amino acid testing</p> Signup and view all the answers

    What is the mechanism of action for dabigatran?

    <p>It is a thrombin inhibitor</p> Signup and view all the answers

    In a patient with sickle cell disease and high-velocity flow in the middle cerebral artery, what is the best method to prevent stroke?

    <p>Avoiding iron deficiency anemia</p> Signup and view all the answers

    A 30-year-old woman with a history of migraines presents with stroke. What is expected based on the information provided?

    <p>Mutation in the KRIT1 gene</p> Signup and view all the answers

    Which of the following medications is recommended to treat the underlying condition in a 20-year-old man with intellectual disability, myopia, and stroke?

    <p>Pyridoxine</p> Signup and view all the answers

    Which of the following tests antagonizes the vitamin K–dependent clotting pathway?

    <p>Platelet receptor binding prevention test</p> Signup and view all the answers

    What is the purpose of using CHADS2 or CHA2DS2-VASc scores in patients with atrial fibrillation?

    <p>To estimate the risk for stroke</p> Signup and view all the answers

    Which of the following is an element included in the CHA2DS2-VASc score for stroke risk estimation?

    <p>Hypertension</p> Signup and view all the answers

    What is the acronym CHADS2 derived from?

    <p>Congestive heart failure Hypertension Age Diabetes Stroke</p> Signup and view all the answers

    Which score provides better stratification for low-risk patients: CHADS2 or CHA2DS2-VASc?

    <p>CHA2DS2-VASc</p> Signup and view all the answers

    What is the HAS-BLED score primarily used for in patients with atrial fibrillation?

    <p>Estimate the 1-year risk for major bleeding</p> Signup and view all the answers

    Which medication can be used to prevent recurrent stroke or TIA in patients with nonvalvular atrial fibrillation?

    <p>Rivaroxaban</p> Signup and view all the answers

    CADASIL is associated with fibrosis of small arteries and arterioles due to deposition of eosinophilic granular material in which layer of the blood vessels?

    <p>Media</p> Signup and view all the answers

    Which gene mutation is responsible for causing CADASIL?

    <p>Missense mutation of NOTCH3 gene</p> Signup and view all the answers

    What characteristic changes can be observed in the white matter of patients with CADASIL on T2-weighted MRI?

    <p>Hyperintensities in the anterior temporal poles</p> Signup and view all the answers

    Which condition is associated with dilated perivascular spaces and cerebral microbleeds?

    <p>CADASIL</p> Signup and view all the answers

    If gene testing for NOTCH3 mutations is negative but CADASIL is still suspected, what diagnostic procedure can be considered?

    <p>Skin biopsy</p> Signup and view all the answers

    What causes cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)?

    <p>Mutations in HTRA1 gene</p> Signup and view all the answers

    What factor increases the risk for recurrence of lobar hemorrhage?

    <p>Microbleeds on gradient echo MRI</p> Signup and view all the answers

    Which medication causes decreased fibrinogen, antithrombin III, protein C, and protein S?

    <p>l-Asparaginase</p> Signup and view all the answers

    What surgery is recommended for patients with cerebellar hemorrhage and worsening neurologic status?

    <p>Suboccipital craniectomy</p> Signup and view all the answers

    Which condition may result in acquired protein C deficiency?

    <p>Liver disease</p> Signup and view all the answers

    What is the most common site of intracranial hemorrhage due to hypertension?

    <p>Putamen</p> Signup and view all the answers

    Which diagnostic procedure should be performed to rule out subarachnoid hemorrhage in a concerning case?

    <p>Lumbar puncture</p> Signup and view all the answers

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