Work

Favorable response to ketogenic diet therapy in a patient with DYNC1H1-related epilepsy

Year: 2024

Type: article

Abstract: • DYNC1H1 disorders involve epilepsy, brain malformation, and neuromuscular diseases. • Epilepsy associated with DYNC1H1 -related disorders often becomes drug-resistant. • We report a case of DYNC1H1-related epilepsy who became seizure-free with the KD Dynein Cytoplasmic 1 Heavy chain 1 ( DYNC1H1) -related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments. To date, there is no specific epilepsy treatment that is particularly effective in this disorder. We report our experience in a case of a 3-year-old girl with a pathogenic variant in DYNC1H1 who presented with a developmental epileptic encephalopathy consistent with IESS and achieved seizure freedom on classic ketogenic diet (KD) after failing Adrenocorticotropic Hormone (ACTH), vigabatrin, and clobazam. The patient remained seizure free for more than 2 years on dietary monotherapy and had reported improvement in alertness, cognitive ability, muscle tone, and a normalized EEG. The ketogenic diet therapy, therefore, has shown to be highly effective in this case with DYNC1H1- related epilepsy .

Source: Epilepsy & Behavior Reports

DOI: 10.1016/j.ebr.2024.100740

Authors: Chalongchai Phitsanuwong, Stephanie Schimpf, Sho T. Yano

Institutions: University of Chicago, Comer Children's Hospital

Language: English

Topic: Diet and metabolism studies

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,310