Objective: Report a case of adult-onset Niemann-Pick disease type C (NPC) with Huntington disease-like (HDL) phenotype.

Background: NPC is a neurodegenerative autosomal recessive lysosomal storage disorder, included in rare diseases. The clinical presentations are heterogenous and depend on the age of onset. In the adult, the psychiatric symptoms are the most common and may occur isolated as initial symptom. Other frequent characteristics are cerebellar ataxia, cognitive dysfunction, dysarthria, vertical supranuclear gaze palsy (VSGP) and less frequent splenomegaly. Movement disorders may present in the adult-onset form as dystonia and unusually as parkinsonism or chorea. The heterogeneous clinical and atypical presentations such as HDL phenotype generate delay in correct diagnosis. There are red flags as VSGP, present in 70-80% of the patients, what makes us think in NPC. The treatment starts with the presence of neurological symptoms, therefore the importance of the early detection.

Method: Analysis of a clinical history of patient with NPC evaluated in our neurology department.

Results: 59-years-old patient, hypothyroid, without neurological family history, with a previous diagnosis of dementia. Referred to our center for a second opinion for involuntary movements and gait disorders with genetic test for Huntington disease (HD) negative. Neurological examination showed choreic movements in trunk and upper extremities and instability gait associated with cognitive impairment (Montreal Cognitive Assessment: 13/30), dysarthria, dystonia in left upper limb, hung-up knee reflex and vertical supranuclear gaze palsy (VSGP) with blink and cephalic accompaniment before making a saccade. Laboratory test and Magnetic Resonance were normal.  The chorea and cognitive dysfunction with a negative genetic test for HD, and the presence of VSGP made us think in NPC. NPC confirmed by Sanger sequencing of the NPC gene, where it was identified a homozygous pathogenic variant in the NPC-1 gene (c.2292G>A p.(Ala764Ala). The patient underwent treatment with miglustat 600 mg/day and she died 3 years after diagnosis.

Conclusion: In the presence of characteristics of HDL in adult patients and the absence of the autosomal dominant family history, the finding of VSGP suggest the diagnosis of NPC. As NPC is a treatable degenerative disease, with a variable survival, because the treatment could slowdown the progression of the disease early recognition is necessary.

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