X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness
Yıl: 2018 Cilt: 26 Sayı: 2 Sayfa Aralığı: 90 - 93 Metin Dili: İngilizce DOI: 10.5336/caserep.2017-57351 İndeks Tarihi: 11-09-2020
X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness
Öz: X-linked adrenoleukodystrophy is the most common peroxisomal disorder characterized by progressive demyelination of the central nervous system, and adrenal insufficiency. A thirteen-years-old male presented with hearing loss and night crying. He was talking loudly becauseof the deafness, and his skin was hyperpigmented. Adrenocorticotropic hormone (ACTH) level wasincreased and cortisol level was low in hormonal evaluation. Very long chain fatty acids were studied for suspected adrenoleukodystrophy, and elevated plasma C26 level led to the diagnosis. Molecular genetic analysis revealed hemizygous deletion of exons 6 to 9 in ABCD1 gene. Althoughpoor school performance, attention deficit, behavioral changes, quadriplegia, cerebral ataxia, visual and hearing impairment, adrenal insufficiency are classical clinical findings of adrenoleukodystrophy, rarely severe deafness can be the initial symptom.
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| APA | Soylu Ustkoyuncu P, güven a, Kiraz A, Gökay S, doğan d (2018). X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness. , 90 - 93. 10.5336/caserep.2017-57351 |
| Chicago | Soylu Ustkoyuncu Pembe,güven ahmet sami,Kiraz Aslihan,Gökay Songül,doğan durmuş X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness. (2018): 90 - 93. 10.5336/caserep.2017-57351 |
| MLA | Soylu Ustkoyuncu Pembe,güven ahmet sami,Kiraz Aslihan,Gökay Songül,doğan durmuş X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness. , 2018, ss.90 - 93. 10.5336/caserep.2017-57351 |
| AMA | Soylu Ustkoyuncu P,güven a,Kiraz A,Gökay S,doğan d X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness. . 2018; 90 - 93. 10.5336/caserep.2017-57351 |
| Vancouver | Soylu Ustkoyuncu P,güven a,Kiraz A,Gökay S,doğan d X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness. . 2018; 90 - 93. 10.5336/caserep.2017-57351 |
| IEEE | Soylu Ustkoyuncu P,güven a,Kiraz A,Gökay S,doğan d "X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness." , ss.90 - 93, 2018. 10.5336/caserep.2017-57351 |
| ISNAD | Soylu Ustkoyuncu, Pembe vd. "X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness". (2018), 90-93. https://doi.org/10.5336/caserep.2017-57351 |
| APA | Soylu Ustkoyuncu P, güven a, Kiraz A, Gökay S, doğan d (2018). X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness. Türkiye Klinikleri Journal of Case Reports, 26(2), 90 - 93. 10.5336/caserep.2017-57351 |
| Chicago | Soylu Ustkoyuncu Pembe,güven ahmet sami,Kiraz Aslihan,Gökay Songül,doğan durmuş X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness. Türkiye Klinikleri Journal of Case Reports 26, no.2 (2018): 90 - 93. 10.5336/caserep.2017-57351 |
| MLA | Soylu Ustkoyuncu Pembe,güven ahmet sami,Kiraz Aslihan,Gökay Songül,doğan durmuş X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness. Türkiye Klinikleri Journal of Case Reports, vol.26, no.2, 2018, ss.90 - 93. 10.5336/caserep.2017-57351 |
| AMA | Soylu Ustkoyuncu P,güven a,Kiraz A,Gökay S,doğan d X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness. Türkiye Klinikleri Journal of Case Reports. 2018; 26(2): 90 - 93. 10.5336/caserep.2017-57351 |
| Vancouver | Soylu Ustkoyuncu P,güven a,Kiraz A,Gökay S,doğan d X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness. Türkiye Klinikleri Journal of Case Reports. 2018; 26(2): 90 - 93. 10.5336/caserep.2017-57351 |
| IEEE | Soylu Ustkoyuncu P,güven a,Kiraz A,Gökay S,doğan d "X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness." Türkiye Klinikleri Journal of Case Reports, 26, ss.90 - 93, 2018. 10.5336/caserep.2017-57351 |
| ISNAD | Soylu Ustkoyuncu, Pembe vd. "X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness". Türkiye Klinikleri Journal of Case Reports 26/2 (2018), 90-93. https://doi.org/10.5336/caserep.2017-57351 |
