Objective: To present a rare case of adult onset NPC patient and pointing out varying response of her distinct symptoms on long term follow up by miglustat.

Background: NPC at adult onset has a wide variety of presentations including ataxia, dystonia, vertical gaze paresis, cognitive impairment and psychiatric symptoms. Early diagnosis of NPC is very important as stabilization and even recovery of some symptoms are shown by prompt starting of miglustat therapy.

Methods: Follow up data of an adult onset NPC patient on miglustat 3x200mg daily for 24 months will be presented. On visits by 3 to 6 months intervals; besides detailed neurological examinations, NPC Functional Disability Rating Score and International Cooperative Ataxia Rating Scale were evaluated. Video recordings of her neurological examinations at the beginning and at 24th month were performed.

Results: A 43-year-old female admitted to our center with 10-year history of gait disturbance exacerbated during turnings and complaints of involuntary movements of all limbs as well as lisping and swallowing difficulties that had started two years ago. Neurological examination revealed dysarthria; supranuclear downgaze paralysis; dystonic movements involving arms, legs and face; dysmetria and ataxic gait. Genetic study performed on the clinical suspicion of NPC resulted positive for NPC1 gene mutation [(c.852delIT) 284Phefs309Ile mutation in 6. exon of NPC1 gene]. Hence, miglustat was started. On the 24th month of follow-up, her swallowing problem was totally recovered, and mild improvement in gait disturbances and dysarthria was achieved. During this period, NPC Functional Disability Rating Score improved from 9 to 8 as well as International Cooperative Ataxia Rating Scale from 24 to 20. Nonetheless, dystonic movements and her cognitive level mildly deteriorated.

Conclusions: This report illustrates a long term, detailed follow up of an adult onset NPC patient who showed dramatic improvement in dyphagia; mild improvement in gait ataxia and dysathria by miglutat; while dystonic movements and cognition failed to respond. Based on our case and some reported case series reports, we think that the efficiency of miglustat may vary according distinct symptoms as well as responsible brain networks which may be addressed in future larger case studies. To clarify this hypothesis may give crucial information for understanding the pathogenesis of NPC and the mechanisms of efficiency of miglustat.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/adult-onset-niemann-pick-type-c-24-month-follow-up-on-miglustat/