Abstract
Neuroacanthocytosis is a rare multisystemic and neurodegenerative disease. That may also occur with a form of polyneuropathy as well as fonik motor tics, generalized chorea, stereotype. In addition dysarthria and dysphagia symptoms are often seen. 36-year-old female patient who has had progressive gait disturbance, speech impairment and involuntary movements in the face, trunk and extremities for about 10 years. These complaints have increased in the last 4-5 years. Her brother had gait disturbance since her childhood. Dysarthri, dystonia in the trunk, right lower extremity and orofasiolingual and choreiform movements especially of the distal extremites were detected in the neurological examination. Deep tendon reflexs DTR were hypoactive. Except for high level of creatine kinase CK 1151u/l reference 129-168 u/l routine blood test results were normal. Cranial MRI showed atrophy in bilateral caudate nucleus and lentiform nucleus. Neuroacanthocytosis was diagnosis because of much more acanthocytes were seen in the peripheric blood smear and moderate sensorimotor polyneuropathy was detected in the EMG
Keywords
References
- Jung HH, Danek A, Walker RH et al. Neuroacanthocytosis Syndromes. Orphanet Journal of Rare Diseases 2011, 6:68)
- Walker RH, Danek A, Dobson-Stone C, Guerrini R, Jung HH, Lafontaine AL, et al. Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes. Mov Disord 2006;Nov 21(11):1794-805.
- Jankovic J. Movement Disorders. In Bradley’s Neurology in Clinical Practice. Robert B. Daroff, Gerald M. Fenichel, Joseph Jankovic, John C. Mazziotta Eds. 6.th. ed, Philadelphia, Saunders Elsevier Inc. 2012, pp1762-801.
- Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, et al. Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21. Am J Hum Genet 1997;61:899-908.
- Fahn S, Jankovic J. Principles and Practice of Movement Disorders. 1st. ed. Churchill Livingstone 2007. Çev. Ed. Akbostancı C. İstanbul: Veri Medikal Yayıncılık, 2008:396-8.
- Özer F, Özben S. Sekonder Parkinsonizm. İçinde Parkinson Hastalığı. Emre M Ed. 1st ed, Ankara, Güneş Tıp Kitabevi 2010, pp 255-6.
- Jung H, Hergersberg M, Kneifel S, Alkadhi H, Schiess R, Weigell- Weber M, at al: McLeod Syndrome: A Novel Mutation,Predominant Psychiatric Manifestations, and Distinct Striatal Imaging Findings. Ann Neurol 2001;49:384–92
- Oğuz E, Özben S, Özer F, Atmaca B, Çetin S. Nöroakantositoz: Olgu Sunumu. Parkinson Hast. Hareket Boz. Der 2008;11: 24-8.
- Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, et al. Chorein Detection for the Diagnosis of Chorea- Acanthocytosis. Ann Neurol 2004;56:299–302
- Brooks DJ, Ibanez V, Playford ED, Sawle GV, Leigh PN, Kocen RS et al. Presynaptic and Postsynaptic Striat Dopaminergic Function in Neuroacanthocytosis: A Positron Emission Tomographic Study. Ann Neurol 1991;30:166-71.
- Nicholl DJ, Sutton I, Dotti MT, Supple SG, Danek A, Lawden M. White matter abnormalities on MRI in neuroacanthocytosis. J Neurol Neurosurg Psychiatry 2004;75:1200-1.
Abstract
Nöroakantositoz; nadir görülen multisistemik ve nörodejeneratif bir hastalıktır. Hastalık distoni, motor ve fonik tikler, jeneralize kore, sterotipi gibi hareket bozukluklarının yanı sıra polinöropati şeklinde de ortaya çıkabilir. Ayrıca disartri ve disfaji sık görülen semptomlardandır.36 yaşındaki bayan hasta, yaklaşık 10 yıldır ilerleyici özellikte olan ve son 4-5 yıldır belirginleşen yürüme güçlüğü, konuşma bozukluğu ile yüz, gövde ve ekstremitelerde istem dışı hareketleri mevcuttu. Erkek kardeşinde de çocukluktan beri olan yürüme bozukluğu varmış ancak herhangi bir tanı almamış. Nörolojik muayenesinde dizartrik konuşma, gövdede, sağ alt ekstremitede ve orofasiolingual bölgede distoni ile özellikle ekstremite distallerinde koreiform hareketler saptandı. Hastanın derin tendon refleksleri DTR total hipoaktif idi. Hastanın rutin kan tetkiklerinde kreatin kinaz CK 1151u/l referans 129-168 u/l yüksekliği dışında anormallik saptanmadı. Kranial MRG’de bilateral caudat nucleus ve lentiform nucleusta atrofi saptandı. Hastanın periferik yaymasında yaygın akantosit görülmesi ve EMG’sinde ılımlı sensorimotor polinöropati saptanması sonucu nöroakantositoz tanısı konuldu
Keywords
References
- Jung HH, Danek A, Walker RH et al. Neuroacanthocytosis Syndromes. Orphanet Journal of Rare Diseases 2011, 6:68)
- Walker RH, Danek A, Dobson-Stone C, Guerrini R, Jung HH, Lafontaine AL, et al. Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes. Mov Disord 2006;Nov 21(11):1794-805.
- Jankovic J. Movement Disorders. In Bradley’s Neurology in Clinical Practice. Robert B. Daroff, Gerald M. Fenichel, Joseph Jankovic, John C. Mazziotta Eds. 6.th. ed, Philadelphia, Saunders Elsevier Inc. 2012, pp1762-801.
- Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, et al. Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21. Am J Hum Genet 1997;61:899-908.
- Fahn S, Jankovic J. Principles and Practice of Movement Disorders. 1st. ed. Churchill Livingstone 2007. Çev. Ed. Akbostancı C. İstanbul: Veri Medikal Yayıncılık, 2008:396-8.
- Özer F, Özben S. Sekonder Parkinsonizm. İçinde Parkinson Hastalığı. Emre M Ed. 1st ed, Ankara, Güneş Tıp Kitabevi 2010, pp 255-6.
- Jung H, Hergersberg M, Kneifel S, Alkadhi H, Schiess R, Weigell- Weber M, at al: McLeod Syndrome: A Novel Mutation,Predominant Psychiatric Manifestations, and Distinct Striatal Imaging Findings. Ann Neurol 2001;49:384–92
- Oğuz E, Özben S, Özer F, Atmaca B, Çetin S. Nöroakantositoz: Olgu Sunumu. Parkinson Hast. Hareket Boz. Der 2008;11: 24-8.
- Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, et al. Chorein Detection for the Diagnosis of Chorea- Acanthocytosis. Ann Neurol 2004;56:299–302
- Brooks DJ, Ibanez V, Playford ED, Sawle GV, Leigh PN, Kocen RS et al. Presynaptic and Postsynaptic Striat Dopaminergic Function in Neuroacanthocytosis: A Positron Emission Tomographic Study. Ann Neurol 1991;30:166-71.
- Nicholl DJ, Sutton I, Dotti MT, Supple SG, Danek A, Lawden M. White matter abnormalities on MRI in neuroacanthocytosis. J Neurol Neurosurg Psychiatry 2004;75:1200-1.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | September 1, 2014 |
| Published in Issue | Year 2014Issue: 3 |