Serdal GÜNGÖR, Yezdan FIRAT, Hakkı Muammer KARAKAŞ, Gülnur ERDEM, Ahmet Kemal FIRAT, Deniz Yakar MUTLU

Adrenolökodistrofinin manyetik rezonans görüntüleme bulguları: spektroskopi ve difüzyon ağırlıklı görüntülemenin tanıya katkısı

Adrenolökodistrofi (ALD), adrenal korteks, santral sinir sistemi ve testisin etkilendiği uzun zincirli yağ asitlerinin birikimine bağlı olarak ortaya çıkan X’e bağlı geçiş gösteren metabolik bir hastalıktır. İnsidansı:1/25 000-1/100 000 arasındadır. Beyin beyaz cevherini tutan peroksizomal bir hastalıktır. ALD tanısı plazmada ve cilt-fibroblast kültüründe çok uzun zincirli yağ asitlerinin artışı ve kromozomal çalışma ile konur. Adrenal yetmezlik ve demyelinizasyona bağlı nörolojik bulgularla seyreder. Lökodistrofi hastalarında altta yatan beyaz cevher anormalilerinin karakterizasyonu, lokalizasyonu ve ayırıcı tanısında MRG öncelikli görüntüleme yöntemidir. Biz bu olgu sunumu aracılığıyla adrenolökodistrofinin manyetik rezonans görüntüleme, manyetik rezonans spektroskopi ve difüzyon ağırlıklı görüntüleme bulgularının kliniğe katkısını sunmayı amaçladık.

Magnetic resonance imaging findings of adrenoleukodystrophy: Diagnostic values of magnetic resonance spectroscopies and diffusion weighted MRI

Adrenoleukodystrophy is an X-linked hereditary disorder involving cerebral white matter, adrenal cortex and testis. The incidence of this disease is ranging between 1/25 000 and 1/100 000. This disease is diagnosed by demonstrating accumulation of very long chain fatty acids in plasma and fibroblasts by moleculer studies. In follow up, the neurologic deficits due to adrenal insufficiency and demyelination are noted. Magnetic resonance imaging is the main modality in the evaluation of leukodystrophies. By presenting this case report, we planned to discuss the role of magnetic resonance imaging, magnetic resonance spectroscopy and diffusion weighted imaging in the diagnosis of adrenoleukodystrophy.

PDF

___

1- McGuinness MC, Lu JF, Zhang HP, et al. Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy. Mol Cell Biol 2003; 23:744-53.
2- Kumar AJ, Kohler W, Kruse B, Naidu S, Bergin A, Edwin D and Moser HW. MR findings in adult-onset adrenoleukodystrophy. Am J. Neuroradiol 1995; 16:1227- 37.
3- Mooser HW. Adrenoleukodystrophy ;phenotype,genetics, patogenezis and terapy. Brain 1997; 120: 1485-1508.
4- Barkovich AJ. Toxic and metabolic brain disorders. In Pediatric neuroimaging. 3rd ed. Philadelphia: Lippincott Williams&Wilkins; 2000. p. 71-157.
5- Cheon JE, Kim IO, Hwang YS, et al. Leukodystrophy in Children: A Pictorial Review of MR Imaging Features. Radiographics 2002; 22: 461-76.
6- Lin A, Ross BD, Harris K, Wong W. Efficacy of proton magnetic resonance spectroscopy in nerological diagnosis and neurotherapeutic decision making. NeuroRx. 2005; 2:197-214.
7- Barkovich AJ, Ferriero DM, Bass N, Boyer R. Involvement of the pontomedullary corticospinal tracts; a usefull finding in the diagnosis of X-linked adrenoleukodystropy. Am J. Neuroradiol 1997; 18:95-100.
8- Eichler FS, Barker PB, Cox C, et al. Proton MR Spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy. Neurology 2002; 58:901-7.
9- Patay Z.Diffusion-weighted MR imaging in leukodystrophies. Eur Radiol 2005; 15:2284-303.
10- Schaefer PW, Grant PE, Gonzalez RG. Diffusion-weighted MR imaging of brain. Radiology 2000; 217:331-45.
11- Engelbrecht V, Scherer A, Rassek M, Witsack HJ, Mödder U. Diffusion-weightedMR imaging in the brain of children: Findings in the normal brain and in the brain with white matter diseases. Radiology 2002; 222: 410-8.
12- Teksam M, Casey SO, Michel E, Truwit CL. İskemik Olmayan Lezyonlarda Difüzyon Ağırlıklı MR Görüntüleme. Türk Tanısal ve Girişimsel Radyoloji 2002; 8:31-7.
13- ter Rahe BS, Majoie CB, Akkerman EM, den Heeten GJ, Poll-The BT, Barth PG. Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings. Am J Neuroradiol 2004; 25:1022-7.
14- Eichler FS, Itoh R, Barker PB. Proton MR spectroscopic and diffusion tensor brain MR Imaging in X-linked adrenoleukodystrophy: initial experience. Radiology 2002; 225:245-52.