MITOCHONDRIAL DISEASES

Question 1

neonatal subacute encephalopathy with bilateral symmetric midbrain and basal ganglia necrosis on MRI?

Answer 1

Leigh syndrome

Question 2

sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and renal tubulopathy?

Answer 2

Pearson syndrome

Question 3

myoclonic epilepsy with ragged red fibres on muscle biopsy?

Answer 3

MERRF

or myoclonic epilepsy with ragged red fibers

Question 4

neurogenic weakness, ataxia, and retinitis pigmentosa?

Answer 4

NARP

Neuropathy, ataxia, and retinitis pigmentosa

Question 5

mitochondrial encephalopathy with lactic acidosis and stroke like episodes?

Answer 5

MELAS

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes

Question 6

encephalopathy, seizures, and hepatic dysfunction

Answer 6

Alpers syndrome

Question 7

mitochondrial neurogastronintestinal encephalopathy?

Answer 7

MNGIE

Mitochondrial neurogastrointestinal encephalomyopathy

Question 8

external ophthalmolegia, pigmentary retinopathy, elevated CSF protein, cerebellar ataxia, and cardiac conduction defects

Answer 8

Kearas-Sayre syndrome

Question 9

maternally inherited diabetes and deafness

Answer 9

MIDD

Maternally inherited diabetes and deafness

Question 10

sensory ataxia, neuropathy, dysarthria and ophthalmoplegia

Answer 10

SANDO

sensory ataxia neuropathy dysarthria and ophthalmoplegia