Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood

Abstract

Alternating hemiplegia of childhood (AHC) is a rare disorder caused by heterozygous mutations in ATP1A3. AHC is associated with early-onset plegic and tonic/dystonic attacks and permanent neurologic deficits. Attacks tend to persist through life. Flunarizine therapy occasionally reduces the severity, duration and frequency of attacks. A ketogenic diet/modified Atkins diet (KD/MAD) can attenuate paroxysmal movement disorders associated with GLUT1 deficiency syndrome (GLUT1DS), but there are no reports on the effect of KD/MAD in AHC. We describe the case of a young girl with AHC who had tonic/dystonic and plegic attacks, mostly triggered by exercise, together with mild permanent dystonia and mental retardation. Her family had a history of dominant (three affected generations) paroxysmal exercise-induced dystonia. A history of plegic attacks that ceased after childhood was retraced from the medical records of the three affected adults, leading to the diagnosis of familial AHC due to ATP1A3 p.Asp923Asn mutation (Roubergue et al 2013). KD/MAD was considered for the proband when she was 3½ years old, following initial misdiagnosis of GLUT1DS. MAD, a KD variant, was chosen because it is easier to manage than KD and is similarly effective to KD in most GLUT1DS patients. MAD resulted in complete disappearance of the attacks during 15 months of follow-up. Conclusions: A modified Atkins diet had a sustained beneficial effect on attacks associated with AHC. Although preliminary, this observation suggests that a ketogenic diet might be a therapeutic option for paroxysmal disorders in some patients with alternating hemiplegia of childhood.

Competing interests: None declared

Appendices

Synopsis

This is the first report on the effect of a ketogenic diet in a patient with alternating hemiplegia of childhood.

Compliance with Ethics and Guidelines

Conflict of Interest

• Anne Roubergue, Bertrand Philibert, Agnès Gautier, Alice Kuster, Karine Markowicz, Thierry Billette de Villemeur, Sandrine Vuillaumier-Barrot, and Diane Doummar declare that they have no conflict of interest.

• Sophie Nicole has received research grants from the French association against alternating hemiplegia (AFHA).

• Emmanuel Roze declares he is the recipient of a grant “poste d’accueil” AP-HP/CNRS. He received research support from INSERM (COSSEC), AP-HP (DRC-PHRC), Fondation pour la Recherche sur le Cerveau (FRC), the Dystonia Coalition (Pilot project), Ipsen, and Merz-Pharma, Novartis, Teva, Lundbeck, Orkyn; served on scientific advisory boards for Orkyn, Ipsen, and Merz-pharma; received speech honorarium from Novartis and Orkyn; received travel funding from Teva, Novartis, the Dystonia Coalition, the Movement Disorders Society, the World Federation of Neurology Association of Parkinsonism and Related Disorders, International Federation of Clinical Neurophysiology

Informed Consent

No ethical approval was required for this work.

The child’s parents have given their consent for the publication of this case study.

Animal Rights

This article does not contain any studies with human or animal subjects performed by the any of the authors.

Details of the Contributions of Individual Authors

• Planning: AR, BP, AG, AK, KM, TBV, SV, SN, ER, DD

• Conduct: AR, TBV, DD

• Reporting of the work described in the article: AR, BP, AG, AK, KM, DD

• Drafting/revising: AR, ER, DD