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Year 2015, Volume: 4 Issue: 2, 104 - 110, 25.06.2016

Fatma Müjgan Sönmez Ahsen Dönmez Serdar Ceylaner Eyüp Üçtepe Halil İbrahim Aydın

Abstract

References

  • Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003; 348: 33-40.
  • Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet.2009; 46: 73-80.
  • Sunwoo YK, Lee JS, Kim W-H, et al. Psychiatric disorder in two siblings with Hallervorden-Spatz disease.Psychiatry Invesig.2009; 6: 226-229.
  • Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. MovDisord.2012; 27: 42-53.
  • Hayflick SJ. Neurodegeneration with brain iron accumulation: from genes to pathogenesis. SeminPediatr Neurol. 2006; 13: 182-185.
  • Antonini A, Goldwurm S, Benti R, et al. Genetic, clinical and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration. MovDisord.2006; 21: 417-418.
  • Aggarwal A, Schneider SA, Houlden H, et al. Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms. MovDisord. 2010; 25: 1424-1431.
  • Yoon WT, Lee WY, Shin HY, et al. Novel PANK2 gene mutations in Korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor. MovDisord.2010; 25: 245-247.
  • Vansteenkiste I, van Gool WA, Hofstee DJ, Tijssen MA. Conversion disorder as initial diagnosis in pantothenate kinase associated neurodegeneration. J Neurol. 2011; 258: 152-154.
  • del Valle-López P, Pérez-García R, Sanguino-Andrés R, González-Pablos E. Adult onset Hallervorden-Spatz disease with psychotic symptoms. ActasEsp Psiquatr. 2011; 39: 260-262.
  • Oner O, Oner P, Deda G, Icagasioglu D. Psychotic disorder in a case with Hallervorden-Spatz disease.ActaPsychiatr Scand. 2003; 108: 394-397.
  • McNeill A, Birchall D, Hayflick SJ, et al. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology.2008; 70: 1614-1619.

An atypical case of pantothenate kinase-associated neurodegeneration (PKAN) initially presenting with stammering and speech disorder

Year 2015, Volume: 4 Issue: 2, 104 - 110, 25.06.2016

Fatma Müjgan Sönmez Ahsen Dönmez Serdar Ceylaner Eyüp Üçtepe Halil İbrahim Aydın

Abstract

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) (previously called Hallervorden-Spatz disease) is an autosomal recessive neurodegenerative disorder that is characterized by pyramidal and extrapyramidal findings. We describe a 15-year-old Turkish male with an atypical form of PKAN whose only early symptoms were stammering and hyperactivity, leading to a misdiagnosis of speech disorder and attention hyperactivity; he had been treated with speech therapy and methylphenidate until admission to our clinic. Cranial magnetic resonance imaging (MRI) revealed a typical eye-of-the-tiger sign, and PANK2 mutation was determined. We should note that the atypical type of PKAN could appear as stammering and ADHD in the initial stage. Thus, the juvenile patient with stammering and slowly progressive speech disorder, parental consanguinity and a similar family history should be evaluated by brain MRI to search for the eye-of-the-tiger sign to elucidate PKAN before initiating the other psychiatric treatments.

Keywords: pantothenate kinase-associated neurodegeneration, atipik; stammering; speech disorder

Özet

Pantotenat kinaz ile ilişkili nörodejenerasyon (PKAN) (önceden Hallervorden-Spatz hastalığı olarak bilinen) otozomal nörodejeneratif bir hastalıktır ve pramidal ve ekstrapramidal bulgular ile karakterizedir. Burada atipik bir PKAN formu ile başvuran 15 yaşında bir Türk erkek olguyu sunuyoruz. İlk bulgularının sadece kekeleme ve hiperaktivite olması nedeniyle kliniğimize başvurmadan önce konuşma bozukluğu ve hiperaktivite tanıları ile konuşma tedavisi ve metilfenidat tedavileri almıştır. Kraniyal manyetik rezonans görüntüleme (MRI) ile atipik kaplan gözü bulgusu ve. PANK2 mutasyonu bulunmuştur. Bu bilgiler ışığında PKAN olgularının kekeleme ve konuşma bozukluğu ile de başvurabileceğine dikkat çekmek istiyoruz. Jüvenil hastalarda kekeleme ve yavaş ilerleyen konuşma bozukluğu gözlendiğinde parenteral akrabalık ve benzer aile öyküsü gibi ek etkenlerde var ise beyin MRI incelemesi ile kaplan gözü bulgusunun aranması PKAN ayırıcı tanısının psikiyatrik tedavilerden önce konulmasına yardımcı olabilir.

Anahtar sözcükler: pantotenat kinaz ile ilişkili nörodejenerasyon, atipik; kekeleme; konuşma bouzkluğu

References

  • Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003; 348: 33-40.
  • Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet.2009; 46: 73-80.
  • Sunwoo YK, Lee JS, Kim W-H, et al. Psychiatric disorder in two siblings with Hallervorden-Spatz disease.Psychiatry Invesig.2009; 6: 226-229.
  • Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. MovDisord.2012; 27: 42-53.
  • Hayflick SJ. Neurodegeneration with brain iron accumulation: from genes to pathogenesis. SeminPediatr Neurol. 2006; 13: 182-185.
  • Antonini A, Goldwurm S, Benti R, et al. Genetic, clinical and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration. MovDisord.2006; 21: 417-418.
  • Aggarwal A, Schneider SA, Houlden H, et al. Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms. MovDisord. 2010; 25: 1424-1431.
  • Yoon WT, Lee WY, Shin HY, et al. Novel PANK2 gene mutations in Korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor. MovDisord.2010; 25: 245-247.
  • Vansteenkiste I, van Gool WA, Hofstee DJ, Tijssen MA. Conversion disorder as initial diagnosis in pantothenate kinase associated neurodegeneration. J Neurol. 2011; 258: 152-154.
  • del Valle-López P, Pérez-García R, Sanguino-Andrés R, González-Pablos E. Adult onset Hallervorden-Spatz disease with psychotic symptoms. ActasEsp Psiquatr. 2011; 39: 260-262.
  • Oner O, Oner P, Deda G, Icagasioglu D. Psychotic disorder in a case with Hallervorden-Spatz disease.ActaPsychiatr Scand. 2003; 108: 394-397.
  • McNeill A, Birchall D, Hayflick SJ, et al. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology.2008; 70: 1614-1619.
There are 12 citations in total.

Details

Journal Section Clinical Sciences
Authors

Fatma Müjgan Sönmez

Ahsen Dönmez This is me

Serdar Ceylaner

Eyüp Üçtepe This is me

Halil İbrahim Aydın This is me

Publication Date June 25, 2016
Published in Issue Year 2015 Volume: 4 Issue: 2

Cite

APA Sönmez, F. M., Dönmez, A., Ceylaner, S., Üçtepe, E., et al. (2016). An atypical case of pantothenate kinase-associated neurodegeneration (PKAN) initially presenting with stammering and speech disorder. Basic and Clinical Sciences, 4(2), 104-110.
AMA Sönmez FM, Dönmez A, Ceylaner S, Üçtepe E, Aydın Hİ. An atypical case of pantothenate kinase-associated neurodegeneration (PKAN) initially presenting with stammering and speech disorder. Basic and Clinical Sciences. June 2016;4(2):104-110.
Chicago Sönmez, Fatma Müjgan, Ahsen Dönmez, Serdar Ceylaner, Eyüp Üçtepe, and Halil İbrahim Aydın. “An Atypical Case of Pantothenate Kinase-Associated Neurodegeneration (PKAN) Initially Presenting With Stammering and Speech Disorder”. Basic and Clinical Sciences 4, no. 2 (June 2016): 104-10.
EndNote Sönmez FM, Dönmez A, Ceylaner S, Üçtepe E, Aydın Hİ (June 1, 2016) An atypical case of pantothenate kinase-associated neurodegeneration (PKAN) initially presenting with stammering and speech disorder. Basic and Clinical Sciences 4 2 104–110.
IEEE F. M. Sönmez, A. Dönmez, S. Ceylaner, E. Üçtepe, and H. İ. Aydın, “An atypical case of pantothenate kinase-associated neurodegeneration (PKAN) initially presenting with stammering and speech disorder”, Basic and Clinical Sciences, vol. 4, no. 2, pp. 104–110, 2016.
ISNAD Sönmez, Fatma Müjgan et al. “An Atypical Case of Pantothenate Kinase-Associated Neurodegeneration (PKAN) Initially Presenting With Stammering and Speech Disorder”. Basic and Clinical Sciences 4/2 (June 2016), 104-110.
JAMA Sönmez FM, Dönmez A, Ceylaner S, Üçtepe E, Aydın Hİ. An atypical case of pantothenate kinase-associated neurodegeneration (PKAN) initially presenting with stammering and speech disorder. Basic and Clinical Sciences. 2016;4:104–110.
MLA Sönmez, Fatma Müjgan et al. “An Atypical Case of Pantothenate Kinase-Associated Neurodegeneration (PKAN) Initially Presenting With Stammering and Speech Disorder”. Basic and Clinical Sciences, vol. 4, no. 2, 2016, pp. 104-10.
Vancouver Sönmez FM, Dönmez A, Ceylaner S, Üçtepe E, Aydın Hİ. An atypical case of pantothenate kinase-associated neurodegeneration (PKAN) initially presenting with stammering and speech disorder. Basic and Clinical Sciences. 2016;4(2):104-10.