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Question

3.5 yrs girl,II degree consaguinity product,2 normal older sibs,mother had jaundice in 1st TM of pregnancy,mild dev.delay. Had grade I hepatic encephalopathy with HAV 6mths back. 3 episodes of para/quadriparesis of mod-severe degree & loss/grossly altered speech lasting for 5-10days over last 15 mths.fever ppt.once,focal seizures once. Workup(KEM-PUNE)-gen.Spikes & wave on EEG,CT(old)-WNL,MRI-enhancement-rt.temporal/parietal lobes & choroid plexus,normal myelination.blood & csf lactates raised. LFT-WNL. ?MELAS/Leighs suggest diagnosis & further workup...

Answer

Since CSF lactate is raised and there have been 3 episodes of encephalopahty, one must work up for inborn error. A urine organic acids and urine for dicarboxylic acid should be done. Do a serum ammonia. Also and EMG to look for myopathy. A muscle biopsy may be indicated if strongly suspecting MERRF or MELAS. Specific enzyme analysis will depend on the further workup .
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