Posted On :
12 Dec 2006
3.5 yrs girl born of second degree consaguinity with 2 normal older sibs and mother had jaundice in 1st trimester of pregnancy presents with mild developmental delay. She had grade I hepatic encephalopathy with Hepatitis A 6 months back. 3 episodes of para,quadriparesis of mod-severe degree and loss,grossly altered speech lasting for 5-10days over last 15 mths. She once had fever precipitated focal seizures. Workup{KEM-PUNE}-generalised Spikes and wave on EEG. CT brain - normal, MRI-enhancement of right temporal , parietal lobes and choroid plexus with normal myelination. Blood and csf lactate are raised. Liver function tests are normal. Is it MELAS,Leighs?
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