SSIEM 2024 Annual Symposium, Porto, Portugal, 3 - 06 September 2024, pp.224
Background: Niemann-Pick disease type C(NPC) is a lysosomalstorage disorder which is characterized by accumulation ofunesterified cholesterol that result in progressive neurologicaldeterioration. The only approved medication in NPC ismiglustat. Given miglustat’s limited efficacy, new therapies areunder development.Ketogenic diet(KD)is beneficial in variousneurodegenerative conditions such as Alzheimer'sdisease,Parkinson's disease,and amyotrophic lateralsclerosis.Here we report a patient with NPC who was treatedwith miglustat in combination with modified Atkins diet.Case Study/Methods: A 14year-old female was referred forinvestigation of gait instability.Physical examination revealedmild vertical supranuclear gaze palsy, ataxia and mildsplenomegaly.Considering NPC score(100), further study wascarried out.The plasma oxysterols resulted elevated 7-ketocholesterol levels.Diagnosis was confirmed by molecularanalysis which showed compound heterozigot variants in NPC1gene. Miglustat was initiated immediately, stabilization of thefindings were observed in the first six months oftreatment.However neurodegenerative deterioration wasobserved over the next years, such as swallowing difficultiesthat led to malnutrition.We re-considered therapeutic option and initiated a classical KDT,energy ratio (fat to nonfat)of4:1.Due to the difficulties of extreme weight loss and severedietary restriction it was switched to Modified Atkins diet(MAD)(2:1).In the third year of therapy, when combinationtherapy was compared with isolated miglustat therapy, asignificant stabilization in progression of NPC score wasobservedDiscussion/Conclusion: KDT in this patient with juvenil NPChas stabilized neurological manifestations.After itinitiation ofKDT,patient’s life quality and alertness increased, and reductionin hospital admissions observed.The concomitant use ofmiglustat and KDT in patients with NPC has been mentioned inonly one case before.This case report may encourage furtherresearch on ketogenic diet in NPC patients.