Objective: We present a case of Niemann-Pick disease type C (NP-C) with adult onset. We review the clinical presentation, diagnosis and treatment of this rare metabolic disease.

Background: NP-C is a rare neurovisceral genetic lysosomal lipid storage disease caused by mutations in the NPC1 or NPC2 gene. Their age at presentation is highly variable. Most cases reported in the literature involved disease onset during childhood, the adult neurological onset form is infrequent.

Method: A 45-year-old female. Family history was unremarkable. His psychomotor development was normal. At the age of 30 years she developed schizoaffective disorder. She was hospitalized in a psychiatric unit repeatedly because of treatment-resistant psychiatric disorders. At the age of 40 years she begins with tremor that did not improve with drug changes and progressive gait impairment ataxia-like. Progressively appeared memory impairment. Her motor skills and the cerebellar syndrome progressively worsened. Neurological examination found impaired vertical saccadic movements of the eyes, gait and limb cerebellar ataxia and cognitive impairment with MMSE 24/30. NPC index percentile 72%(Figure 1-2).

Results: Laboratory investigations including routine chemistries, copper level, ceruloplasmin and thyroid antibodies, serologies and autoimmunity study were unremarkable. MRI reported generalized cortical atrophy. DAT SCAN did not show alterations. Electroneuromyography, abdominal ultrasonography were normal. EEG showed generalized slowing. Neuropsychological evaluation showed diffuse cognitive alterations, with predominant frontal lobe dysfunction. 2-[18F]-fluoro-2-deoxy-d-glucose (FDG) PET/TC showed frontal, parietal and temporal right hypometabolism(Figure3). NPC1 Gene sequencing two pathogenic alleles in heterozygosis confirming the diagnosis (p.Q775P and p.D1097N), normal chiotirosidase activite; CCL18/PARC 447 ng/ml and high 7-KC levels.
She was treated with Miglustat at the age of 43 years: neurological symptoms stabilized, and behavioral symptoms improved. Nowadays, at the age of 48, she can walk with supervision and is dependent in activities of daily living.

Conclusion: In adults onset NP-C can mimic other diseases because at this age NP-C is particularly difficult to diagnose. Delays to diagnosis and subsequent initiation of disease-specific treatment may affect disease course. This work contributed to increased knowledge of the disease, their detection and earlier treatment.

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