A 26-year-old female patient presented with recurrent abdominal pain, limb numbness and weakness, autonomic neuropathy, and peripheral neuropathy following a COVID-19 infection that subsequently progressed to respiratory and circulatory failure. Initially misdiagnosed as having neurosis, intestinal obstruction, and Guillain-Barré syndrome, she received treatment for inflammatory peripheral neuropathy—including immunoglobulin therapy and plasma exchange—yet her symptoms failed to improve.
During the clinical assessment, the patient’s urine exhibited a brown coloration that transformed to reddish-brown upon exposure to sunlight. Whole exome sequencing (WES) revealed a mutation in the HMBS gene (exon 10, c.651G>C, p.Gln217His) in the proband; this finding was subsequently confirmed through Sanger sequencing. The genetic diagnosis indicated rare acute intermittent porphyria complicated by severe peripheral nerve damage.
Following initiation of treatment with chlorophyllin and a high-carbohydrate diet, the patient’s symptoms of numbness and weakness gradually improved.
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