Objective: To describe an atypical presentation of a PANK2 mutation.

Background: PKAN (Pantothenate-Kinase-Associated Neurodegeneration) is the most common NBIA (Neurodegeneration with brain iron accumulation) disorder, accounting for approximately half of NBIA cases. PKAN may present from early childhood to mid-adulthood. Generally, early-onset disease heralds a more rapid rate of progression, while later-onset disease typically advances in a more insidious pattern. The designation of classic vs. atypical PKAN recognizes that the pediatric phenotype tends to be rather homogeneous while acknowledging that a much wider phenotypic spectrum may occur due to mutations in PANK2.

Methods: Case-report.

Results: A 27-year-old young woman presents with a history of progressive cervical dystonia, starting at 20 years-old, characterized by a left torticollis and slight retrocollis, dystonic cervical tremor, and frequent painful dystonic contractures, with clear worsening on voluntary action. The patient also presents dystonic smile, stuttering voice, and blepharospasm. A slight bilateral distal upper limb dystonic posturing was also present, with 4-5th fingers cubital deviation. The left lower limb presented mild dystonic posture, with an inward deviation of the left foot. The patient presented bilateral pyramidal signs and freezing of gait, present mainly in turns, but no other parkinsonian or cerebellar features were present. Impulsivity and some degree of emotional incontinence were the main existing neuropsychiatric features. The patient family history was positive for 2-second degree cousins with NBIA (paternal lineage). The brain MRI performed revealed the typical “eye-of-the-tiger” sign. The genetic analysis of PANK2 gene showed homozygous missense mutation G1070C (Arg357Pro) in exon 3.

Conclusions: This case highlights the importance of considering PKAN, in adult-onset focal dystonia’s, in the presence of typical brain imaging features, even in patients with atypical phenomenological presentations.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/atypical-presentation-of-pank2-mutation-a-case-report/