Öz
Neuroacanthocytosis is a neurodegeneretive disease characterized by movement disorders, seizures, dementia, and cognitive impairment associated with acanthocytes, spike-like abnormality of red blood cells. Lots of neuroacanthocytosis syndromes have been defined in the literature. A lot of syndrome and/or disease like Huntington disease, Parkinson Disease, Tourette Syndrome, and Wilson Disease could be accounted in the differential diagnosis of this pathology. Diagnosis is established in the presence of acanthocytes in the peripheral blood smear and clinical picture. Treatment is only symptomatic and no cure chance is present. Anticholinergic agents, antipsychotic agents, antiepileptic drugs, acetylcholine release inhibitors have been used for the treatment of symptoms. Herein, we are presenting a neuroacanthocytosis case presenting with acute respiratory distress. In the symptomatic relief, we used 1 gram/day methylprednisolone treatment for 10 days
Anahtar Kelimeler
neuroacanthocytosis methylprednisolone axonal neuropathy dyskinesia ataxia
Kaynakça
- Rafalowska J, Drac H, Jamrozik Z. Neuroacanthocytosis. Review of literature and case report. Folia Neuropathol 1996; 34(4):178-83.
- Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP et al. Early clinical heterogeneity in choreoacanthocytosis. Arch Neurol. 2005; 62(4): 611-4.
- 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.
- Walker RH, Morgello S, Davidoff-Feldman B, Melnick A, Walsh MJ, Shashidharan P et al. Autosomal dominant chorea-acanthocytosis with polyglutamine-contai-ning neuronal inclusions. Neurology 2002; 58: 1031-7.
- Hardie RJ, Pulln HW, Harding AE, Owen JS, Pires M, Daniels GI et al. Neuroacanthocytosis. A clinical, hematological and pathological study of 19 cases. Brain 1941; 14: 13-49.
- Feinberg TE, Cianci CD, Morrow JS, Pehta JC, Redman CM, Huima T et al. Diagnostic tests for choreoacanthocytosis. Neurology 1991;41: 1000-6.
- Sorrentino G, De Renzo A, Miniello S, Nori O, Bonavita V. Late appearance of acanthocytes during the course of choreaacanthocytosis. J Neurol Sci 1999; 163(2):175-8.
- Galgali RB, Srinivasan K, Kurpad SS, Neerakal I. Neuroacanthocytosis: a case report. Indian Journal of Psychiatry 2001; 43 (1): 87-9.
- Lin F-C, Wei L-J, Shih P-Y. Effect of levetiracetam on truncal tic in neuroacanthocytosis. Acta Neurol Taiwan 2006; 15: 38-42.
- Luca R, Adrian D, Anthony PM. Clinical features and molecular basis of neuroacanthocytosis. J Mol Med 2002;80:475-49.
- Adam Z, Geoff S. Neuroacanthocytosis. Practical Neurol 2004;4: 298-301.
- Stevenson VL, Hardie RJ. Acanthocytosis and neurological disorders. J Neurol 2001;248: 87-94.
- Rampoldi L, Danek A, Monoca AP. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med 2002; 80: 475-91.
- Storch A, Kornhass M, Schwarz J. Testing for acanthocytosis. A prospective reader-blinded study in movement disorder patients. J Neurol 2005; 252(1): 84-90.
- Dervin JE, Kendall BK, Hardie RJ. Neuroacanthocytosis: correlation of clinical and neuroimaging abnormalities. Neuroradiology 1991;33 Supl:575-7.
- Tanaka M, Hirai S, Kondo S, Sun X, Nakagawa T, Tanaka S, Hayashi K, Okamoto K. Cerebral hypoperfusion and hypometabolism with altered striatal signal intensity in chorea-acanthocytosis: a combined PET and MRI study. Mov Disord 1998;13:100-7.
- Okamoto K, Ito J, Furusawa T, Sakai TK, Tokiguchi S, Homma, A, Koike R, Tsuji S. CT and MR findings of neuroacanthocytosis. J Comput Asist Tomogr. 1991;21:221-2.
- Katsube T, Shimono T, Ashikaga R, Hosono M, Kitagaki, Murakami T. Demonstration of cerebellar atrophy in neuroacanthocytosis of 2 siblings. Am J Neuroradiol 2009; 30: 386-8.
- Marson AM, Bucciantini E, Gentile E, Geda C. Neuroacanthocytosis: clinical, radiological, and neurophysiological findings in an Italian family. Neurol Sci 2003;24: 188-9.
Öz
Nöroakantositoz hareket bozuklukları, nöbet, demans ve davranış değişiklikleri ile seyreden nadiren miyopati veya aksonal nöropatinin eşlik ettiği periferik yaymada dikensi akantositlerin varlığıyla karakterize nörodejeneratif bir hastalıktır. Literatürde birçok nöroakontositoz sendromu tanımlanmıştır ve ayırıcı tanısında da Huntington hastalığı, Parkinson Hastalığı, Tourette Sendromu ve Wilson Hastalığı gibi birçok hastalık veya sendrom bulunmaktadır. Tanı esas olarak klinik tablo ve periferik kanda akantositlerin varlığına dayanmaktadır. Tedavisi tamamen semptomatik olup kür şansı yoktur. Tedavi olarak antikolinerjikler, antipsikotikler, antiepileptikler, asetilkolin salınım inhibitörleri gibi ilaçlar semptomların tedavisi için kullanılmaktadır. Bu yazıda akut solunum yetmezliği ile başvuran ve nöroakantositoz teşhisi konulan 38 yaşındaki bir erkek hasta sunulacaktır. Hastanın semptomları 10 gün boyunca günlük 1 gram metilprednizolon tedavisi ile kontrol altına alınmıştır
Anahtar Kelimeler
nöroakantositoz metilprednizolon aksonal nöropati diskinezi ataksi
Kaynakça
- Rafalowska J, Drac H, Jamrozik Z. Neuroacanthocytosis. Review of literature and case report. Folia Neuropathol 1996; 34(4):178-83.
- Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP et al. Early clinical heterogeneity in choreoacanthocytosis. Arch Neurol. 2005; 62(4): 611-4.
- 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.
- Walker RH, Morgello S, Davidoff-Feldman B, Melnick A, Walsh MJ, Shashidharan P et al. Autosomal dominant chorea-acanthocytosis with polyglutamine-contai-ning neuronal inclusions. Neurology 2002; 58: 1031-7.
- Hardie RJ, Pulln HW, Harding AE, Owen JS, Pires M, Daniels GI et al. Neuroacanthocytosis. A clinical, hematological and pathological study of 19 cases. Brain 1941; 14: 13-49.
- Feinberg TE, Cianci CD, Morrow JS, Pehta JC, Redman CM, Huima T et al. Diagnostic tests for choreoacanthocytosis. Neurology 1991;41: 1000-6.
- Sorrentino G, De Renzo A, Miniello S, Nori O, Bonavita V. Late appearance of acanthocytes during the course of choreaacanthocytosis. J Neurol Sci 1999; 163(2):175-8.
- Galgali RB, Srinivasan K, Kurpad SS, Neerakal I. Neuroacanthocytosis: a case report. Indian Journal of Psychiatry 2001; 43 (1): 87-9.
- Lin F-C, Wei L-J, Shih P-Y. Effect of levetiracetam on truncal tic in neuroacanthocytosis. Acta Neurol Taiwan 2006; 15: 38-42.
- Luca R, Adrian D, Anthony PM. Clinical features and molecular basis of neuroacanthocytosis. J Mol Med 2002;80:475-49.
- Adam Z, Geoff S. Neuroacanthocytosis. Practical Neurol 2004;4: 298-301.
- Stevenson VL, Hardie RJ. Acanthocytosis and neurological disorders. J Neurol 2001;248: 87-94.
- Rampoldi L, Danek A, Monoca AP. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med 2002; 80: 475-91.
- Storch A, Kornhass M, Schwarz J. Testing for acanthocytosis. A prospective reader-blinded study in movement disorder patients. J Neurol 2005; 252(1): 84-90.
- Dervin JE, Kendall BK, Hardie RJ. Neuroacanthocytosis: correlation of clinical and neuroimaging abnormalities. Neuroradiology 1991;33 Supl:575-7.
- Tanaka M, Hirai S, Kondo S, Sun X, Nakagawa T, Tanaka S, Hayashi K, Okamoto K. Cerebral hypoperfusion and hypometabolism with altered striatal signal intensity in chorea-acanthocytosis: a combined PET and MRI study. Mov Disord 1998;13:100-7.
- Okamoto K, Ito J, Furusawa T, Sakai TK, Tokiguchi S, Homma, A, Koike R, Tsuji S. CT and MR findings of neuroacanthocytosis. J Comput Asist Tomogr. 1991;21:221-2.
- Katsube T, Shimono T, Ashikaga R, Hosono M, Kitagaki, Murakami T. Demonstration of cerebellar atrophy in neuroacanthocytosis of 2 siblings. Am J Neuroradiol 2009; 30: 386-8.
- Marson AM, Bucciantini E, Gentile E, Geda C. Neuroacanthocytosis: clinical, radiological, and neurophysiological findings in an Italian family. Neurol Sci 2003;24: 188-9.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Eylül 2012 |
| Yayımlandığı Sayı | Yıl 2012Sayı: 3 |