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Macha's curse: an Ulster pedigree

Published online by Cambridge University Press:  13 June 2014

Robert C Montgomery ,
Norman C Nevin  and
David J King
Robert C Montgomery
Affiliation:
Holywell Hospital
Norman C Nevin
Affiliation:
Department of Medical Genetics, The Queen's University of Belfast
David J King*
Affiliation:
Department of Therapeutics and Pharmacology, The Queen's University of Belfast, and Consultant Psychiatrist, Holywell Hospital, Antrim, Northern Ireland
*
Department of Therapeutics and Pharmacology, The Whitla Medical Building, 97 Lisburn Road, Belfast, BT9 7BL, Northern Ireland
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Abstract

Two individuals, a father and son with idiopathic intestinal pseudo-obstruction (IIPO), a familial visceral neuropathy, and major depressive illness are presented. In both the bowel symptoms preceded the onset of the depressive illness – the bowel symptoms presenting in mid-adolescence and the depressive illness presenting in middle age. Both patients required numerous laparotomies and both were treated with a series of ECTs. Both developed vitamin B12 deficiency anaemia and other evidence of malabsorption. At post-mortem both patients showed evidence of distension of the small bowel with volvulus. An extensive pedigree of both conditions overlapping in two inter-related families now extending to the fourth generation with 28 children under the age of 30 is described. Pending further investigation and genetic studies we postulate a possible common neurotransmitter pathology and recommend further neurochemical and histopathological studies of the myenteric plexus in IIPO. Furthermore, the genetic locus of familial IIPO might provide a genetic marker for some forms of primary affective disorder.

Keywords

Unipolar affective disorderBipolar affective disorderGenetic markersIdiopathic intestinal pseudo-obstructionBowel symptomsDiseases of folklore
Type
Clinical & Brief Reports
Information
Irish Journal of Psychological Medicine , Volume 9 , Issue 2 , November 1992 , pp. 115 - 119
Copyright
Copyright © Cambridge University Press 1992

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