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Question

a child on the unit, known to have hemiplegic cerebral palsy, came with status epilepticus, also had persistent metabolic acidosis, deranged liver function tests, which improved after 3-4 days. vital signs were stable,airway was self maintained except that she did not wake up after the anticonvulsants were stopped.on day 5, she had 2 massive pneumothoraces, requiring intensive care. urine organic and amino acids were normal, no infective focus was found.EEG reveals an encephalopathic picture. echocardiogram was normal.we still do not know the cause for her persistent metabolic acidosis.she has also required platelet transfusion for falling platelet counts.she also has gone into Acute tubular necrosis.she is currently being ventilated.what could be the reason for the presistent metabolic acidosis?

Answer

ONe must rule out sepsis and infection including leptospira, dengue, viral encephalitis and bacterial infection in view of status epilepticus, deranged liver enzymes, kidney problems, metabolic acidosis and thrombocytopenia. If infection is ruled out, one must rule out metabolic disorders such as mitochodrial disorders, fatty acid oxidation defect and organic acidemia. Since UAA and PAA are normal, mitochondrial disorders and fatty acid defects should be kepot in mind. Lastly heavy metal poisoning should be kept in mind.
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