Mitochondrial Disorders

Question 1

Myoclonus
Myoclonic epilepsy
Ataxia

Ragged red fibers on muscle biopsy

Answer 1

MERF

Myoclonic epilepsy with ragged red fibers

Question 2

Lactic acidoses -> GABA connection formation

Stroke-like episodes

Causes generalized tonic-clonic seizures often associates with hemiparesis and cortical blindness

Answer 2

MELAS

Mitochondrial encephalopathy

Question 3

Recurrent headaches and vomiting

Eventually leads to progressive neuro abnormalities, coma and death

Answer 3

MELAS

Mitochondrial encehalopathy

Question 4

MELAS

Mitochondrial encephalopathy on MRI will show

Answer 4

Multiple strokes but not in a vascular pattern

Question 5

Increased lactic acid in blood and urine

Muscle biopsy will also show ragged red fibers

Answer 5

MELAS

Mitochondrial encephalopathy

Question 6

Rare neurometabolic disorder that affects the CNS

Crucial cells in the brainstem and basal ganglia are affected with mutations in mitochondrial DNA

Answer 6

Leigh Subacute Necrotizing Encephalomyelopathy (SNEM)

Leigh disease

Question 7

Cells have NO ENERGY -> affecting CNS -> inhibits motor function

Answer 7

Leigh disease

Subacute necrotizing encephalomyelopathy

Question 8

Characterized by movement disorders

Vomiting, irritability, continuous cry and seizures

A later sign can also be episodes of lactic acidosis

Answer 8

Leigh Subacute Necrotizing Encephalomyelopathy

Question 9

Treatment for Leigh

Answer 9

High fat

Low carbohydrate diet