A 26-year-old female patient presented with recurrent abdominal pain, accompanied by numbness and weakness in the limbs, as well as autonomic and peripheral neuropathy following a COVID-19 infection. Her condition subsequently deteriorated, resulting in respiratory and circulatory failure. Initially misdiagnosed with neurosis, intestinal obstruction, and Guillain-Barré syndrome, she underwent treatment for inflammatory peripheral neuropathy, which included immunoglobulin therapy and plasma exchange; however, these interventions did not yield any symptomatic relief.
Upon further investigation, it was noted that the patient’s urine exhibited a brown coloration that shifted to a reddish-brown hue when exposed to sunlight. Utilizing whole exome sequencing (WES), a mutation in the HMBS gene (exon 10, c.651G>C, p.Gln217His) was identified in the proband. This finding was subsequently validated through Sanger sequencing, leading to a diagnosis of rare acute intermittent porphyria complicated by severe peripheral nerve damage.
Following the initiation of treatment with chlorhexidine and a high-carbohydrate diet, the patient’s symptoms of numbness and weakness began to show gradual improvement.
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