Pantothenate kinase-associated neurodegeneration (PKAN) – a rare clinical entity

Abstract

Introduction: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by the absence or defciency of PANK2 gene located on chromosome 20p13-p12.3. It is a motor disorder of extrapyramidal type associated with dystonia, rigidity, and involuntary movements (choreoathetosis and tremor). Case Report: A 15-year-old male patient born of third-degree consanguineous marriage with normal developmental mile stones presents with complaints of abnormal posturing of both upper limbs since 1 year, unclear speech since 6 months, and abnormal posturing of both lower limbs since 2 months. General examination revealed dystonic posturing of both hands in the form of fexion of wrist and fst, occasional dystonic smile, and task-specifc dystonia. Neurological examination higher mental functions normal, tone increased in all limbs, power 5/5 in all groups of muscles, refexes 2+ (DTR) plantar fexor response bilaterally. There was no sensory and cerebellar signs. Fundoscopy revealed retinitis pigmentosa and macular dystrophy in both eyes. Magnetic resonance imaging (MRI) of brain revealed focal altered signal intensities symmetrically in globus pallidus which appeared hyperintense on T2-weighted images with surrounding areas of low signal intensity in all sequences (eye-of-the-tiger sign), which was suggestive of neuronal degeneration, probably Hallervorden-Spatz disease. Conclusion: PKAN is a rare syndrome which has to be suspected in child with dystonic posture and MRI features. Currently, treatment is symptomatic. The ongoing involvement of physical, occupational, and speech therapists can delay complications of disease.