1309 - Pantothenate kinase-associated neurodegeneration also known as Hallervorden-Spatz disease

Case Diagnosis:
Pantothenate kinase-associated neurodegeneration also known as Hallervorden-Spatz disease.

Case Description:
A 28-year-old female who presented with dystonia, dysphagia, and both gait and cognitive difficulty was subsequently diagnosed with Pantothenate kinase-associated neurodegeneration (PKAN), also known as Hallervorden-Spatz disease after genetic testing showed mutations in PANK2 gene. The patient also presented with intermittent retropulsion of the head and neck, truncal flexion when seated, and exaggerated plantar flexion of both feet. The patient eventually had four surgeries for placement of a deep brain stimulator. After placement of the deep brain stimulators along with physical and speech therapy, her dystonia, gait, swallowing and overall function significantly improved. The patient continued to follow physiatry for management of her bilateral distal upper and lower extremity spasticity with oral baclofen, which continued to assist with ambulation and activities of daily living.

Discussions:
Pantothenate kinase-associated neurodegeneration, is a rare autosomal recessive disease characterized by iron accumulation in the brain and progressive extrapyramidal dysfunction and dementia. PKAN is distinguished from other neurodegenerative disorders with brain iron accumulation by mutations in the PANK2 gene. PKAN typically presents between the ages of 7 and 15, but patients can also have a late onset and present in adulthood, with most patients presenting with dystonia as the primary symptom, amongst other neurological symptoms including spasticity. The standard diagnostic evaluation done via Brain MRI shows hypointensity reflecting areas of iron deposition. Deep brain stimulation and pharmacologic spasticity management have been know to improve quality of life in these patients.

Conclusions:
Although a rare disorder, PKAN should be considered in patients with cognitive deficits, spasticity and cervical dystonia. Early recognition with MRI, management with deep brain stimulation and baclofen, and physical and speech rehabilitation are crucial in improving the patient’s deficits and their overall quality of life.