P0301 - The Unlikely Culprit of A Headache

We present a case of a 5 year-old boy who came to the emergency department after a week long history of worsening, throbbing headaches and episodes of unresponsiveness and nystagmus, lasting 20-30 seconds. The patient’s mother reported the patient had normal development and no significant past medical history, except a recent hospital visit for viral gastroenteritis. Labs and hypercoagulability studies were done, all of which were normal except a slight elevation in lactic acid. An EEG was ordered, showing a slowing of the left hemisphere with some seizure focus in the left occipital region. An MRI demonstrated a PCA subacute infarct. He was discharged on aspirin and lacosamide with a diagnosis of ischemic stroke and symptomatic localization epilepsy. The patient was instructed to follow up with a neurologist. Three months later, the patient returned due to recurrent episodes of visual impairment, gait ataxia, and myoclonic jerks. On exam, significant findings included: left hemianopsia, truncal ataxia, and brief seizure-like episodes. Lactic acid was elevated, initially 2.3 then 4.8. Upon this admission, the MRI demonstrated two apparent strokes in the posterior circulation without MRA evidence of blood vessel abnormalities. The EEG showed abnormal generalized frontal dominant high-voltage spikes and polyspikes. At this point, a mitochondrial disease was suspected and work-up included: a spinal tap to assess lactic acid and pyruvate as well as MELAS genetic mutation analysis. The results indicated that the patient had MELAS syndrome. He was stable upon discharge and given instructions to follow up with cardiology, hematology, and neurology.

MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke) syndrome is a rare mitochondrial disorder that often arises in the pediatric population. This case presents classical findings associated with MELAS syndrome, including severe headaches, stroke-like episodes, seizures, nausea/vomiting, myopathy, myoclonus, visual impairments, and hearing loss. The signs of this disorder often appear in childhood after an initial normal development. Because MELAS syndrome involves multiple organ systems, it is vital to have a multidisciplinary approach for treatment, aimed at lessening the overall symptom burden. There is no cure for MELAS syndrome, and it is ultimately fatal. However, an understanding of the classical features of this syndrome is vital to ensuring early diagnosis to minimize complications and improve quality of life.