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Prateek Malik1, Pavithra Mannam2, Manas Sharma1

  • 1From the Division of Neuroradiology (P.M., M.S., S.P.), Department of Medical Imaging, London Health Sciences Centre, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Radiodiagnosis (P.M., R.S.N., B.T.S.), Neurological Sciences (A.S.), Christian Medical College, Vellore, Tamil Nadu, India and Department of Radiology (S.M.), Jerudong Park Medical Centre, Bandar Seri Begawan, Brunei.

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Acute intermittent porphyria (AIP) shows diverse brain MRI findings, not limited to PRES. Dysautonomia, ileus, and hyponatremia suggest a shared autonomic basis in AIP neurovisceral episodes.

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Area of Science:

  • Neurology
  • Radiology
  • Medical Genetics

Background:

  • Acute intermittent porphyria (AIP) central nervous system (CNS) imaging findings are not well-defined.
  • Previous studies have not systematically characterized AIP's MRI brain manifestations.

Purpose of the Study:

  • To define the spectrum of MRI brain findings in acute intermittent porphyria (AIP).
  • To investigate the relationship between autonomic dysfunction, CNS findings, and gastrointestinal symptoms in AIP.

Main Methods:

  • Retrospective analysis of 27 neurovisceral episodes in 23 biochemically confirmed AIP patients (2008-2018).
  • Review of 28 brain MRI studies performed during acute AIP episodes.
  • Categorization of MRI findings by anatomical distribution: lobar-cortical, hippocampal, cortical-subcortical, deep gray matter, and normal.
  • Analysis of clinical and biochemical data, including autonomic dysfunction status.

Main Results:

  • The lobar-cortical pattern was the most common MRI finding (32.1%), followed by hippocampal (21.4%).
  • 25% of MRI studies were normal; some patients showed evolving changes on serial imaging.
  • Autonomic dysfunction occurred in 44.4% of episodes and was significantly linked to ileus and hyponatremia.

Conclusions:

  • AIP presents with varied MRI brain appearances, overlapping with PRES, seizure, metabolic, and electrolyte disturbances.
  • The co-occurrence of autonomic dysfunction, ileus, and hyponatremia suggests a common autonomic pathway in AIP.
  • Recognizing this pattern aids in considering AIP as a diagnosis.