6.8.2 Headache attributed to mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

Identification:

Sex/Age: Male adolescent, 16 years

History: Previous history of short stature, type 1 diabetes mellitus diagnosed at age 10, and progressive bilateral sensorineural hearing loss

Family history: Mother with a history of migraine and diabetes mellitus

History of Present Illness (HPI):

Main symptom: Severe headache for 2 days

Characteristics of the pain:

Location: Holocranial

Character: Pulsatile

Intensity: 9/10

Duration: Continuous

Associated symptoms:

Acute episode of transient right hemiparesis (duration: 6 hours)

Repeated nausea and vomiting

Photophobia and phonophobia

Progressive mental confusion

Physical/Neurological Examination:

General state: Patient conscious but disoriented in time and space

Neurological examination:

Mild right facial hemiparesis (residual)

Asymmetric brisk deep tendon reflexes (R>L)

Gait ataxia

Bilateral horizontal nystagmus

Complementary Examinations:

Cranial MRI: Bilateral parieto-occipital cortico-subcortical lesions not respecting vascular territories

Laboratory:

Metabolic acidosis with elevated serum lactate (5.8 mmol/L)

Blood glucose: 210 mg/dL

Elevated CK (450 U/L)

Genetics: m.3243A>G mutation in mitochondrial DNA