Sunday 5 April 2015

MELAS

A 15 y o male with altered sensorium. 

Here is CT Brain study. 


CT study of Brain shows bilateral symmetric chronic lacunes in bilateral caudate nuclei.
Rest of the CT brain normal.
No associated atrophy or cortical involvement.

I really got surprised when I noted the clinical history.
Patient was a known case of MELAS, laboratory Studies with abnormal reports of Serum lactic acid, serum pyruvic acid, cerebrospinal fluid (CSF) lactic acid, and CSF pyruvic acid noted.

Imaging findings are actually atypical for MELAS.

The typical radiographic features of MELAS includes multiple acute and chronic infarcts in multiple vascular territories, may be either symmetrical or asymmetrical. Parieto-occipital and parieto-temporal involvement is most common. Associated basal ganglial calcification and atrophy.

MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is one of many mitochondrial disorders, only inherited from the mother, characterised by 'stroke-like' episodes, typically in childhood or early adulthood. 90% present before 40 years of age.
Clinical presentation usually has a relapsing remitting course with or without superimposed accretion of permanent deficits.
Clinical presentation is characterized by stroke like episodes, encephalopathy, seizures, dementia, lactic acidosis, muscle weakness, deafness. 

No comments: