Abstract
<strong>Background:</strong> Hereditary coproporphyria (HCPO) is a low-penetrance, autosomal dominant, acute hepatic porphyria characterized by the overproduction and excretion of coproporphyrin. The most common neurological manifestations of this entity include peripheral, predominantly motor dysfunction, and central nervous system dysfunction. Ataxia associated with HCPO has not been reported previously. The aim of this article is to report a patient with HCPO presenting with acute ataxia. <strong>Case Report:</strong> We describe a 44-year-old patient presenting clinically with acute ataxia who was diagnosed with HCPO; mutations were analyzed in the <em>coproporphyrin-oxidase III</em> (<em>CPOX</em>) gene in the patient and in six asymptomatic first-degree relatives. <strong>Discussion:</strong> The patient was heterozygous for a mutation causing the amino acid exchange Q306X in the <em>CPOX</em> gene. No relatives carried the same or another mutation in the <em>CPOX</em> gene. HCPO should be considered in the differential diagnosis for patients presenting with ataxia.
Highlights
Porphyrias are metabolic diseases that develop from either inherited or, more infrequently, acquired disturbances of heme biosynthesis, leading to an overproduction of heme precursors in liver and bone marrow
We report a patient who was diagnosed with hereditary coproporphyria associated with a mutation in the coproporphyrin-oxidase III (CPOX) gene presenting with acute ataxia
Because urine analysis showed a marked excretion of coproporphyrins and of total porphyrins, the patient was diagnosed with hereditary coproporphyria
Summary
Porphyrias are metabolic diseases that develop from either inherited or, more infrequently, acquired disturbances of heme biosynthesis, leading to an overproduction of heme precursors in liver and bone marrow. Patients suffering from acute porphyrias share a common clinical symptom of acute, severe abdominal pain attacks. Symptoms such as nausea, vomiting, hypertension, tachycardia, and hyponatremia are present in most porphyric crises. Severe or prolonged attacks are accompanied by peripheral, predominantly motor dysfunction, and central nervous system dysfunction.[3] The presence of light-induced skin symptoms due to the dermal accumulation of the photosensitizing porphyrins, mainly blisters, ulcers, and skin fragility, are common in some acute porphyrias.[3]. The aim of this article is to report a patient with HCPO presenting with acute ataxia. Case Report: We describe a 44-year-old patient presenting clinically with acute ataxia who was diagnosed with HCPO; mutations were analyzed in the coproporphyrin-oxidase III (CPOX) gene in the patient and in six asymptomatic first-degree relatives. HCPO should be considered in the differential diagnosis for patients presenting with ataxia
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
