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Adrenoleukodystrophy: Magnetic Resonance and Diffusion Weighted Imaging Findings

Year 2018, Volume: 40 Issue: 3, 308 - 311, 30.09.2018
https://doi.org/10.7197/223.vi.417858

Abstract

Adrenolökodistrofi: Manyetik Rezonans ve Difüzyon Ağırlıklı Görüntüleme
Bulguları



ÖZET



Adrenolökodistrofi (ALD), adrenal
korteks ve santral sinir sisteminin etkilendiği adrenal yetmezlik ve demiyelinasyona
bağlı nörolojik bulgularla seyreden nadir genetik bir hastalıktır. Bu
bozukluğun temel histopatolojik özellikleri, beyaz cevherde demiyelinasyon ve
aksonal kaybıdır. ALD gibi lökodistrofi tanısı alan hastalarda altta yatan
beyaz cevher anormalilerinin karakterizasyonu, lokalizasyonu ve ayırıcı
tanısında MRG öncelikli görüntüleme yöntemidir. Bu yazıda adrenolökodistrofi
tanısı alan 9 yaşındaki erkek olguda manyetik rezonans görüntüleme ve difüzyon
ağırlıklı görüntüleme bulgularının kliniğe katkısını sunmayı amaçladık.



 



Adrenoleukodystrophy: Magnetic
Resonance and Diffusion Weighted Imaging Findings



 



ABSTRACT



 



         Adrenoleukodystrophy (ALD) is
a rare genetic disorder characterized by adrenal failure affecting adrenal
cortex and central nervous system and demyelination-related neurological signs.
The basic histopathological properties of this disorder are white matter
demyelination and axonal loss. In patients diagnosed with a leukodystrophy such
as ALD, magnetic resonance imaging (MRI) is the primary imaging modality for
characterization, localization, and differential diagnosis of underlying white
matter abnormalities. Herein, we aimed to report the contribution of MRI and
diffusion-weighted imaging (DWI) findings to clinical findings of the disorder
in a 9-year-old boy diagnosed with adrenoleukodystrophy.




References

  • Reference1 Mooser HW. Adrenoleukodystrophy; phenotype, genetics, patogenezis and terapy. Brain. 1997; 120: 1485-1508.
  • Reference2 Barkovich AJ, Ferriero DM, Bass N, Boyer R. Involvement of the pontomedullary corticospinal tracts; a usefull finding in the diagnosis of X-linked adrenoleukodystropy. AJNR Am J Neuroradiol. 1997; 18: 95-100.
  • Reference3 Yüzbaş Çekiç P, Biçeroğlu S, Sener RN. Adrenoleukodystrophy: Diffusion MRI findings. Journal of Pediatric Neurology. 2005; 3: 277–8.
  • Reference4 Sener RN. Atypical X-linked adrenoleukodystrophy: new MRI observations with FLAIR, magnetization transfer contrast, diffusion MRI, and proton spectroscopy. Magn Reson Imaging. 2002; 20: 215–9.
  • Reference5 Mutlu DY, Fırat A, Karakaş HM, Erdem G, Fırat Y, Güngör S. Adrenolökodistrofinin Manyetik Rezonans Görüntüleme Bulguları: Spektroskopi Ve Difüzyon Ağırlıklı Görüntülemenin Tanıya Katkısı. İnönü Üniversitesi Tıp Fakültesi Dergisi. 2008; 15: 103-7.
  • Reference6 Şener RN. Atypical X-linked adrenoleukodystrophy: new MRI observations with FLAIR, magnetization transfer contrast, diffusion MRI, and proton spectroscopy. Magnetic Resonance Imaging. 2002; 20: 215–9.
  • Reference7 Segawa F, Kishibayashi J, Kamada K, Sunohara N, Kinoshita M. Diffusion anisotropy in cerebral white matter lesion. No To Shinkei. 1994; 46: 765–70.
  • Reference8 Santosh Rai PV, Suresh BV, Bhat IG, Sekhar M, Chakraborti S. Childhood adrenoleukodystrophy - Classic and variant - Review of clinical manifestations and magnetic resonance imaging. J Pediatr Neurosci. 2013; 8: 192-7.
Year 2018, Volume: 40 Issue: 3, 308 - 311, 30.09.2018
https://doi.org/10.7197/223.vi.417858

Abstract

References

  • Reference1 Mooser HW. Adrenoleukodystrophy; phenotype, genetics, patogenezis and terapy. Brain. 1997; 120: 1485-1508.
  • Reference2 Barkovich AJ, Ferriero DM, Bass N, Boyer R. Involvement of the pontomedullary corticospinal tracts; a usefull finding in the diagnosis of X-linked adrenoleukodystropy. AJNR Am J Neuroradiol. 1997; 18: 95-100.
  • Reference3 Yüzbaş Çekiç P, Biçeroğlu S, Sener RN. Adrenoleukodystrophy: Diffusion MRI findings. Journal of Pediatric Neurology. 2005; 3: 277–8.
  • Reference4 Sener RN. Atypical X-linked adrenoleukodystrophy: new MRI observations with FLAIR, magnetization transfer contrast, diffusion MRI, and proton spectroscopy. Magn Reson Imaging. 2002; 20: 215–9.
  • Reference5 Mutlu DY, Fırat A, Karakaş HM, Erdem G, Fırat Y, Güngör S. Adrenolökodistrofinin Manyetik Rezonans Görüntüleme Bulguları: Spektroskopi Ve Difüzyon Ağırlıklı Görüntülemenin Tanıya Katkısı. İnönü Üniversitesi Tıp Fakültesi Dergisi. 2008; 15: 103-7.
  • Reference6 Şener RN. Atypical X-linked adrenoleukodystrophy: new MRI observations with FLAIR, magnetization transfer contrast, diffusion MRI, and proton spectroscopy. Magnetic Resonance Imaging. 2002; 20: 215–9.
  • Reference7 Segawa F, Kishibayashi J, Kamada K, Sunohara N, Kinoshita M. Diffusion anisotropy in cerebral white matter lesion. No To Shinkei. 1994; 46: 765–70.
  • Reference8 Santosh Rai PV, Suresh BV, Bhat IG, Sekhar M, Chakraborti S. Childhood adrenoleukodystrophy - Classic and variant - Review of clinical manifestations and magnetic resonance imaging. J Pediatr Neurosci. 2013; 8: 192-7.
There are 8 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Reports
Authors

Mehmet Atalar

Publication Date September 30, 2018
Acceptance Date July 10, 2018
Published in Issue Year 2018Volume: 40 Issue: 3

Cite

AMA Atalar M. Adrenoleukodystrophy: Magnetic Resonance and Diffusion Weighted Imaging Findings. CMJ. September 2018;40(3):308-311. doi:10.7197/223.vi.417858