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[Autonomic dysfunctions in acute intermittent porphyria]
Rinsho Shinkeigaku = Clinical Neurology
|June 1, 1989
Summary
This study details a young woman with acute intermittent porphyria experiencing a severe attack with flaccid quadriplegia and autonomic nervous system dysfunction. Findings highlight significant autonomic impairment, particularly vagal nerve dysfunction, during porphyria attacks.
Area of Science:
- Neurology
- Internal Medicine
- Genetics
Background:
- Acute intermittent porphyria (AIP) is a rare genetic disorder affecting heme synthesis.
- AIP attacks can present with diverse neurological and autonomic symptoms.
Observation:
- A young woman with AIP presented with prolonged attack, flaccid quadriplegia, and significant autonomic dysfunction.
- Pupillary abnormalities, gastrointestinal disturbances (constipation, abdominal pain), and cardiovascular changes (tachycardia, hypertension) were noted.
- Impaired vagal function was indicated by decreased R-R interval variability and lack of response to atropine, while sympathetic function appeared less impaired initially.
Findings:
- The patient exhibited marked impairment of vagal nerve function during the AIP attack.
- Sympathetic nervous system function showed less impairment, despite elevated plasma and urinary noradrenaline levels.
- Other observed autonomic manifestations included sweating disorders, loss of sphincter control, fever, and amenorrhea.
Implications:
- This case underscores the profound impact of AIP attacks on the autonomic nervous system.
- Understanding these autonomic manifestations is crucial for comprehensive patient management and treatment strategies.
- Further research into the neuroautonomic mechanisms of porphyria is warranted.