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[Hereditary coproporphyria (author's transl)]

K H Pflüger, M Doss

    Deutsche Medizinische Wochenschrift (1946)
    |May 21, 1982
    PubMed
    Summary
    This summary is machine-generated.

    A rare genetic disorder, hereditary coproporphyria, caused severe neurological symptoms including paralysis. This case highlights the diagnostic challenges and delayed identification of acute hepatic porphyria.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Neurology

    Background:

    • Hereditary coproporphyria is a rare autosomal dominant disorder.
    • Acute hepatic porphyria presents with diverse and often severe symptoms.

    Observation:

    • A 28-year-old female presented with tetraplegia and respiratory paralysis.
    • The patient had a 12-year history of polysymptomatology, including abdominal, neuropsychiatric, and cardiovascular issues.
    • She received 46 incorrect diagnoses and underwent numerous hospitalizations and surgeries without relief.

    Findings:

    • Acute hepatic porphyria of the hereditary coproporphyria type was diagnosed.
    • Epilepsy was noted in the patient's medical history.
    • Porphyria diagnostics were not previously considered.

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    Implications:

    • This case underscores the importance of considering rare genetic disorders in complex clinical presentations.
    • Timely porphyria diagnostics can prevent prolonged suffering and unnecessary interventions.
    • Improved diagnostic pathways are needed for patients with undiagnosed, multi-systemic diseases.