L'Encéphale
Volume 40, Issue 4, September 2014, Pages 345–350
Cas clinique

Une porphyrie démentielle ou manifestations psychiatriques chroniques de la porphyrie. À propos d’un cas

State of dementia due to intermittent acute porphyria: A case report
doi:10.1016/j.encep.2012.09.003
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Résumé

Les porphyries sont des maladies métaboliques héréditaires rares causées par le déficit d’une des enzymes intervenant dans la chaîne de biosynthèse de l’hème. Il existe deux grandes formes de porphyries : les formes hépatiques et les formes érythropoïétiques, selon le tissu où prédomine le trouble métabolique. Parmi les formes hépatiques, trois d’entre-elles donnent des formes neuroviscérales aiguës, avec potentiellement des manifestations psychiatriques hétérogènes. Nous présentons le cas d’une patiente âgée de 58 ans, hospitalisée en service de médecine, dont la symptomatologie plutôt évocatrice d’un syndrome démentiel précoce a pu être améliorée de façon spectaculaire, dans un premier temps, dès lors qu’un diagnostic de porphyrie intermittente aiguë a pu être envisagé, et que les médicaments porphyrinogéniques ont été suspendus, mais qui est décédée lors d’une nouvelle crise. Cette situation clinique, avec une maladie ayant probablement évolué pendant plus de 15 ans et de nombreux épisodes aigus, pose la question d’une évolution chronique des troubles psychiatriques associés.

Summary

Introduction

Porphyrias are rare inherited disorders due to specific enzyme abnormalities of heme biosynthesis. We can classify them as hepatic or erythropoïetic, the type depends on the organ in which the enzyme is deficient. Among the hepatic forms, three of them are clinically characterised by acute abdominal pain and neuropathy, sometimes associated with psychiatric disorders.

Case report

This 58-year-old woman has been hospitalized frequently since 1995 with depression, apathy, or for suicide attempts. She has a history of alcohol addiction and since 1992 suffers from non-insulin dependant diabetes. She had been treated by benzodiazepines and neuroleptic medication for several years. Psychiatric examination revealed persecution and megalomania delirium associated with a Capgras syndrome, confusion, disorientation, depression and blunted affect. Results of neurologic examination showed reduced deep tendon reflexes, and nerve conduction revealed sensitive neuropathy. Moreover, she lay down, remained non-responsive and resisted care. The whole clinical picture evoked early dementia. Coloured urine was noticed and porphyria tested. When the diagnosis of intermittent acute porphyria was made, she gradually improved by stopping the drugs not indicated for the case, and by treating her diabetes. A few months later, while hospitalized for a similar episode, she choked on her food and died, probably caused by autonomic neuropathy.

Discussion

Our hypothesis was that chronic and debilitating psychopathology may be due to acute intermittent porphyria. Probably, among patients treated for psychiatric illness, some of them may suffer from this enzyme abnormality. Above all, the psychopathology associated with intermittent acute porphyria is polymorphous such as atypical psychosis, schizoaffective disorder, depression, apathetic withdrawal, and in this case report dementia. In like manner, organic manifestations are numerous and varied, leading to erroneous diagnosis. We suspect that patients with porphyria are common among mentally ill subjects. Do we have to test all our psychiatric patients for porphyria? It seems that the prevalence of intermittent acute porphyria in the psychiatric patient population is 0.21%, whereas the prevalence in the normal population is from 0.001 to 0.002%.

Conclusion

The early detection of porphyria may diminish morbidity and mortality rates, and perhaps heal some chronic atypical psychiatric illnesses.

Mots clés

  • Porphyrie;
  • Porphyrie aiguë intermittente;
  • Troubles neuropsychiatriques;
  • Symptômes psychiatriques chroniques;
  • Médicaments porphyrinogéniques

Keywords

  • Porphyria;
  • Intermittent acute porphyria;
  • Neuro-psychiatric disorders;
  • Chronic psychiatric disorders;
  • Drugs and porphyria
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