Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand

Vachiravit Sriprakoon; Chalisa Ittagornpunth; Nakorn Puapaiboon; Aekasit Bunyahathaipat; Punnapat Piriyanon; Sookkasem Khositseth; Kitiwan Rojnueangnit

doi:10.12659/AJCR.937695

04 November 2022 : Case report Thailand

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand

Rare disease

Vachiravit Sriprakoon^1BCDEF, Chalisa Ittagornpunth^1BEF, Nakorn Puapaiboon^1C, Aekasit Bunyahathaipat^1C, Punnapat Piriyanon^2BE, Sookkasem Khositseth^2D, Kitiwan Rojnueangnit^2ABCDEF*

DOI: 10.12659/AJCR.937695

Am J Case Rep 2022; 23:e937695

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Figure 1. Magnetic resonance imaging of brain of T2/fluid-attenuated inversion recovery revealed hyperintensity at cortical and subcortical areas of parieto-occipital lobes and cortical area of the left parietal lobe (arrow).

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Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand

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