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

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30 Questions

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

Postural orthostatic tachycardia syndrome (POTS)

Which neurotransmitter is released by sympathetic preganglionic neurons?

Acetylcholine

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

Parasympathetic 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.

True

Which of the following is associated with autonomic neuropathy?

Constipation

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

Urinary urgency

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

Serum and urine amino acid testing

What is the mechanism of action for dabigatran?

It is a thrombin inhibitor

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

Avoiding iron deficiency anemia

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

Mutation in the KRIT1 gene

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

Pyridoxine

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

Platelet receptor binding prevention test

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

To estimate the risk for stroke

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

Hypertension

What is the acronym CHADS2 derived from?

Congestive heart failure Hypertension Age Diabetes Stroke

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

CHA2DS2-VASc

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

Estimate the 1-year risk for major bleeding

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

Rivaroxaban

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

Media

Which gene mutation is responsible for causing CADASIL?

Missense mutation of NOTCH3 gene

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

Hyperintensities in the anterior temporal poles

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

CADASIL

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

Skin biopsy

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

Mutations in HTRA1 gene

What factor increases the risk for recurrence of lobar hemorrhage?

Microbleeds on gradient echo MRI

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

l-Asparaginase

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

Suboccipital craniectomy

Which condition may result in acquired protein C deficiency?

Liver disease

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

Putamen

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

Lumbar puncture

Explore a medical case study involving a 15-year-old girl presenting with lightheadedness, headaches, and fatigue following a viral illness. Analyze symptoms such as palpitations, sweating, and heart rate changes upon standing. Test your knowledge of diagnostic indicators and potential underlying conditions.

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