Review Note
Last Update: 04/01/2024 02:31 AM
Current Deck: Neurology::Stroke
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Text
A previously healthy 5-year-old girl presents with acute onset headache, vomiting, encephalopathy, seizure, and right-sided hemiplegia. On further questioning, her parents report a similar episode a year prior which presented with sensorineural hearing loss which never fully returned to baseline. On exam, the patient is noted to have short stature. Workup for which mitochondrial disease should be included in the evaluation?
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
- Kearns-Sayre syndrome
- Pediatric diabetic ketoacidosis
- Posterior circulation stroke
Answer: {{c1::Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)}}
Notes
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a mitochondrial disease affecting primarily the nervous system and muscles.
- MELAS presents in childhood as recurrent episodes of encephalopathy, myopathy, headache, and focal neurological deficits.
- MELAS is relentlessly progressive, resulting in neurological impairment by adolescence or early adulthood.
- Evaluation of MELAS patients reveals ragged red fibers on muscle biopsy and elevated lactate in serum, urine, and cerebral spinal fluid.
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