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Washington University Experience | METABOLIC | Leigh's Dz | 7A0 Case 7 - History

7A0 Case 7 - History
Case 7 History ---- The patient was a 14 year old male with a progressive neurological disorder dating from approximately the age of 18 months with deteriorating gait, development of spastic quadriparesis, and pseudobulbar palsy. He had epileptiform attacks and eventual blindness secondary to bilateral optic atrophy. Intensive investigations were carried out but no definitive diagnosis was established during life. He developed contractures during the course of the illness with reduced muscle bulk and increased muscle tone. He showed slow intellectual deterioration. There was evidence of white matter changes of the brain on CT and MRI scans. Prior to final admission, the child was ill for the previous 24 hours with frequent suctioning by the parents. He was listless and later found pulseless.



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