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Succinic semialdehyde dehydrogenase deficiency

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    My patient was the daughter of Pakistani parents. She presented with typical features of subacute sclerosing panenecephalitis (SSPE) and the diagnosis was confirmed by a high cerebrospinal fluid measles antibody titre. She had had mild to moderate learning difficulties before the onset of SSPE and a younger brother presented later with developmental slowness and was shown to have …

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