Objective: To report a familial case of severe dystonia associated with Pantothenate kinase associated neurodegeneration (PKAN).

Background: Pantothenate kinase associated neurodegeneration (PKAN) is named previously Hallervorden-Spatz syndrome (HSS). PKAN is rare autosomal recessive disorder of childhood characterized by mutations in the pantothenate kinase -2 (PANK 2) gene and iron accumulations in the brain. Clinical manifestation is characterized progressive extrapyramidal syndrome and typical MRI finding as the eye of the tiger sign.

Method: Case report of two sisters with PKAN.

Results: A 5 years old girl came with her mother to clinic with 6 months history of foot inversion when walking. Family history revealed that her old sister had the same problem. Her symptom began at the age of 4 with walking difficulties. Progression was rapid with loss of independent ambulation within 1 year. She had severe pain from generalized dystonia mostly truncul, retrocolis caused dislocation minor artropathy and renal dysfunction. Magnetic resonance imaging (MRI) showed specific pattern of globus pallidus as the eye of the tiger sign. PANK2 mutation test was not done due to unavailability in Mongolia. Administration of anticholinergic, levodopa and antiepileptic drugs had no clinical effect. She died at the age of 6 due to renal dysfunction and pulmonary arrest due to severe generalized dystonia. Second daughter’s symptom developed gradually compared to the older daughter, after 2.5 years of onset she had lost her independence. Clinical feature was similar with her sister as they both had a generalized dystonia that causes severe painful contractions of the spine muscle. MRI showed a specific finding. PANK2 mutation test was done abroad and revealed positive result. She had Botox injection with temporary improvement of her severe dystonic contraction muscle. Unfortunately she had died at the age of 8 due to cardiac arrest from generalized dystonia. Now, the family is waiting to get a genetic test done abroad on the third daughter, who is turning 4 years old this year.

Conclusion: Familial case of two sisters had classical signs of PKAN with progressive generalized painful dystonia, specific MRI finding and PANK2 mutations. Even though PKAN is autosomal recessive disorder, future genetic testing and consultation are needed for possibility of having healthy child in this family.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/pantothenate-kinase-associated-neurodegeneration-a-familial-case-report-of-two-sisters-with-severe-dystonia/