WBR0245

Author	[[PageAuthor::William J Gibson (Reviewed by Yazan Daaboul, M.D.)]]
Exam Type	ExamType::USMLE Step 1
Main Category	MainCategory::Genetics, MainCategory::Pathophysiology
Sub Category	SubCategory::Neurology, SubCategory::General Principles
Prompt	[[Prompt::A 36-year-old woman is brought to the emergency department (ED) by EMS following a seizure. Her husband reports that she was watching television when she began to see the colors on the screen blend, and the room began to “wave”. As her vision normalized, she experienced a sharp migraine headache and vomited twice. She lost consciousness for 10 minutes but regained consciousness by the time EMS arrived. Physical examination in the ED is remarkable for weakness in the right upper and lower limbs and presence of a wide-based ataxic gait. Laboratory studies demonstrate a lactate concentration of 58.4 mmol/L (reference: < 2.1 mmol/L). What is the most appropriate diagnostic modality for this patient's condition?]]
Answer A	AnswerA::MRI
Answer A Explanation	[[AnswerAExp::A patient with stroke-like symptoms and lactic acidosis suggests MELAS syndrome. An MRI might show ventricular enlargement but an MRI would be nonspecific for MELAS. Many other conditions including stroke could cause macroscopic alterations in the brain that could be visualized by MRI.]]
Answer B	AnswerB::Blood smear
Answer B Explanation	[[AnswerBExp::Certain conditions, such as G6PD, can cause lactic acidosis due to widespread hemolysis. However, the lactic acidosis of G6PD is not typically as severe as the acidosis in this patient. Furthermore, G6PD is an X-linked condition and therefore highly unlikely to occur in a female. A blood smear would show bite cells.]]
Answer C	AnswerC::Muscle biopsy
Answer C Explanation	AnswerCExp::Ragged red fibers on muscle biopsy are characteristic of mitochondrial diseases, including MELAS.
Answer D	AnswerD::Glucose tolerance test
Answer D Explanation	AnswerDExp::A glucose tolerance would more likely be used to diagnose diabetes.
Answer E	AnswerE::Liver enzymes
Answer E Explanation	AnswerEExp::Liver enzymes, such as ALT and AST, can indicate hepatitis, which is not a feature of MELAS.
Right Answer	RightAnswer::C
Explanation	[[Explanation::The patient in this scenario is likely suffering from mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like symptoms (MELAS Syndrome). MELAS is a hereditary disorder affecting the mitochondria. Individuals with MELAS often develop severe lactic acidosis due to insufficient mitochondrial metabolism activity. Therefore, the body symptoms most affected by MELAS are those most dependent on oxidative phosphorylation, such as the nervous system and muscles. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia). Muscle biopsy of affected patients will likely demonstrate clumps of diseased mitochondria and appear as ragged red fibers on trichome stain. Educational Objective: MELAS and other mitochondrial diseases cause ragged red fibers on muscle biopsy. References: First Aid 2014 page 86]]
Approved	Approved::Yes
Keyword	WBRKeyword::Genetics, WBRKeyword::Mitochondria, WBRKeyword::Mitochonrdial, WBRKeyword::MELAS, WBRKeyword::MELAS syndrome, WBRKeyword::Ragged red fibers
Linked Question	Linked::
Order in Linked Questions	LinkedOrder::