Work

The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias

Year: 2025

Type: article

Abstract: Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37-year-old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting of chronic abdominal pain, presyncope, weight loss, and neuropsychiatric symptoms. Examination revealed profound proximal arm weakness, sensory deficits, bulbar involvement, and autonomic features. MRI of the brain and spine and cerebrospinal fluid analysis were normal. Electrodiagnostic studies demonstrated a severe diffuse motor neurogenic process. Markedly elevated urinary porphobilinogen and aminolevulinic acid levels confirmed the diagnosis of acute intermittent porphyric neuropathy, supported by identification of a variant of uncertain significance in the HMBS gene. This case underscores the importance of considering AIP in patients with subacute motor-predominant neuropathy accompanied by abdominal pain and autonomic dysfunction, as early diagnosis enables timely treatment and improved outcomes.

Source: Annals of Clinical and Translational Neurology

DOI: 10.1002/acn3.70289

Authors: Peter Pacut, Joy Cannon, Neel Dixit, Qihua Fan

Institutions: Virginia Commonwealth University, Virginia Commonwealth University Medical Center

Language: English

Topic: Porphyrin Metabolism and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $4,100