Akademik Veri Yönetim Sistemi
17th Annual ICORD Meeting, İzmir, Türkiye, 14 - 16 Kasım 2025, ss.14-15, (Özet Bildiri)
Introduction: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare and
progressive neurodegenerative disorder caused by mutations in the PANK2 gene, with an
estimated prevalence of approximately 1–2 per 1,000,000 individuals.
This disorder primarily arises due to dysfunction of the PANK2 enzyme, which plays a critical
role in the biosynthesis of coenzyme A from vitamin B5 (pantothenic acid). Mutations in the
PANK2 gene result in impaired coenzyme A, iron, and dopamine metabolism, leading to the
pathological accumulation of iron, lipofuscin, and neuromelanin within the substantia nigra
and globus pallidus.
PKAN typically presents before the age of six and follows a progressive course. Clinical
features include motor, cognitive, and language impairment, spasticity, extrapyramidal signs,
and visual disturbances. Dystonia is the most common manifestation. The most common ocular
manifestation in PKAN is retinitis pigmentosa. Ocular involvement arises as a consequence of
retinal degeneration, which is attributed to iron accumulation, mitochondrial energy
dysfunction associated with coenzyme A deficiency, and the subsequent oxidative stress.
Homozygous mutations usually result in the classic form (75%), whereas compound
heterozygous mutations are associated with the atypical form. The classic phenotype typically
manifests before age six, progresses rapidly, and may lead to death within 1–2 years.
Diagnosis of PKAN is primarily based on clinical suspicion, the characteristic “eye-of-thetiger”
sign visible on magnetic resonance imaging (MRI), and subsequent genetic
confirmation. As of now, no disease-modifying therapies are available for PKAN. Treatment
of the movement disorders associated with PKAN typically involves symptomatic
management, including oral medications, botulinum toxin injections, physiotherapy,
occasionally, surgical interventions.
Objective: PKAN is a progressive neurodegenerative disease in which the most severe
complication is status dystonicus, a potentially fatal condition. In this study, we aimed to present
our clinical experience with PKAN patients, focusing on the course of their movement
disorders, therapeutic strategies for uncontrolled dystonia, and our management approach to
status dystonicus.
Methods: We analyzed the medical records of four genetically confirmed PKAN patients
followed at the Department of Pediatric Neurology, Gazi University Faculty of Medicine.
Clinical data, including medical history, physical examination findings, neuroimaging results,
genetic analyses, longitudinal clinical course, and treatment modalities, were reviewed.
Results: The four PKAN patients, currently aged between 16 and 20 years, initially presented
with frequent falls and visual disturbances. Diagnosis was established based on characteristic
MRI findings and was subsequently confirmed by genetic testing.
All patients received a combination of lifestyle modifications, oral pharmacological therapy,
and physiotherapy to control movement disorders and prevent the development of status
dystonicus. Despite these interventions, the patient developed status dystonicus subsequent to
a humeral fracture secondary to dystonia, and the condition was managed through surgical
intervention.
Conclusion: PKAN is a rare and progressive neurodegenerative disorder. Due to the potentially
severe complications associated with movement disorders, particularly status dystonicus,
therapeutic strategies should prioritize effective symptom management and prevention of this
life-threatening condition.