Solunum Sıkıntısı ile Başvuran Nöroakantositoz Olgusunda Steroid Tedavisi: Olgu Sunumu

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

Steroid Treatment In a Neuroacanthocytosis Case Presenting With Respiratory Distress: Case Report

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

Keywords:

neuroacanthocytosis, methylprednisolone, axonal neuropathy dyskinesia, ataxia,

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