Pantothenate kinase-associated neurodegeneration (Hallerworden–Spatze disease): clinical aspects, diagnosis, treatment (literature review and own data)

Authors

  • Yu. H. Antypkin State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv, Ukraine https://orcid.org/0000-0002-8018-4393
  • L. H. Kyrylova State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv, Ukraine https://orcid.org/0000-0002-9879-1132
  • O. O. Miroshnykov State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv, Ukraine https://orcid.org/0000-0002-7614-6335
  • O. O. Yuzva State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv, Ukraine https://orcid.org/0000-0002-0918-4788
  • L. Yu. Silaieva State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv, Ukraine
  • O. V. Berehela State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv, Ukraine
  • L. A. Myroniak SI “Institute of Nuclear Medicine and Diagnostic Radiology of the NAMS of Ukraine”, Kyiv, Ukraine

DOI:

https://doi.org/10.14739/2310-1210.2021.5.222677

Keywords:

pantothenate kinase-associated neurodegeneration, brain, Hallervorden–Spatz disease, neurodegeneration with brain iron accumulation

Abstract

Aim. To analyze current data of scientific literature on the etiology, pathogenesis, approaches to the diagnosis and treatment of rare orphan disease – pantothenate kinase-associated neurodegeneration and to describe the clinical case of this disease.

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare inherited autosomal recessive disorder caused by mutations in the PANK2 gene, which is located at the chromosomal locus: 20p13-p12.3.

The article presents a literature review and a case report of the diagnosis and treatment of 8-year-old girl with pantothenate kinase-associated neurodegeneration who suffered from progressive motor impairment.

Among the dominant clinical manifestations is a growing extrapyramidal motor disorder, the so-called “dystonic storm”, which can range from severe sensorimotor motor deficits in infants and young children to mild parkinsonism in adults. MRI signs in the form of specific changes in the T2-weighted mode, which detects typical areas of hyperintensive signal in globus pallidus, surrounded by a border of hypointensive signal (“tiger’s eye”) are particular important. Neuroimaging data most likely make possible to suspect a correct diagnosis, reducing the time and cost of additional examinations.

There is no pathogenetic treatment of this disease now. The main directions of currently available symptomatic drug therapy are described. Clinical trials of detoxifying drugs that reduce iron levels in the body (chelation) and surgical treatments are currently underway.

Conclusions. The presented clinical observation once again confirms the complexity of the diagnostic search for orphan diseases of the nervous system. A key place in the diagnosis of pantothenate kinase-associated neurodegeneration belongs to the neuroimaging methods and molecular genetic testing data.

Author Biographies

Yu. H. Antypkin, State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv

MD, PhD, DSc, Prof., Academician of the National Academy of Medical Sciences of Ukraine, Director of the State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv.

L. H. Kyrylova, State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv

MD, PhD, DSc, Scientific Director of the Department of Psychoneurology for Children with Perinatal Pathology and Orphan Diseases

O. O. Miroshnykov, State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv

MD, PhD, Senior Researcher of the Department of Psychoneurology for Children with Perinatal Pathology and Orphan Diseases

O. O. Yuzva, State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv

Junior Researcher of the Department of Psychoneurology for Children with Perinatal Pathology and Orphan Diseases

L. Yu. Silaieva, State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv

Head of the Department of Psychoneurology for Children with Perinatal Pathology and Orphan Diseases

O. V. Berehela, State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O. M. Lukyanova of the NAMS of Ukraine”, Kyiv

MD, Pediatric Neurologist of the Department of Psychoneurology for Children with Perinatal Pathology and Orphan Diseases

L. A. Myroniak, SI “Institute of Nuclear Medicine and Diagnostic Radiology of the NAMS of Ukraine”, Kyiv

MD, PhD, Head of MRI Reference-centrum

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Published

2021-09-01

How to Cite

1.
Antypkin YH, Kyrylova LH, Miroshnykov OO, Yuzva OO, Silaieva LY, Berehela OV, Myroniak LA. Pantothenate kinase-associated neurodegeneration (Hallerworden–Spatze disease): clinical aspects, diagnosis, treatment (literature review and own data). Zaporozhye Medical Journal [Internet]. 2021Sep.1 [cited 2024Jul.17];23(5):715-22. Available from: http://zmj.zsmu.edu.ua/article/view/222677

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Section

Review