Carlos II of Spain, 'The Bewitched': cursed by aspartylglucosaminuria?

Andrew Martin; Robert Heard; Victor S C Fung

doi:10.1136/bmjno-2020-000072

Carlos II of Spain, 'The Bewitched': cursed by aspartylglucosaminuria?

BMJ Neurol Open. 2021 Sep 27;3(2):e000072. doi: 10.1136/bmjno-2020-000072. eCollection 2021.

Authors

Andrew Martin¹, Robert Heard^{2

3}, Victor S C Fung¹

Affiliations

¹ Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, New South Wales, Australia.
² Department of Neurology, Gosford Hospital, Gosford, New South Wales, Australia.
³ Westmead Millennium Institute, The University of Sydney, Sydney, New South Wales, Australia.

Abstract

Carlos II of Spain (1661-1700), last of the Spanish Habsburgs, was known as The 'Bewitched' due to his multiple medical issues and feeble nature. He suffered from a range of ailments extending beyond the well-known Habsburg jaw, including developmental delay, intellectual disability, dysarthria, skeletal deformity, recurrent infections, epilepsy and infertility, among others. The Habsburg dynasty of Spain was characterised by marked inbreeding, and the male line died out with Carlos II. Various diagnoses have been proffered to explain Carlos II's infirmity, though none have been full satisfactory to explain the full breadth of his ailments. As illustrated here, it may be that aspartylglucosaminuria, an autosomal recessively inherited lysosomal storage disorder, can account for both the characteristic facial features and the wide variety of other features exhibited by Carlos II.

Keywords: epilepsy; genetics; metabolic disease.